Variant report

Variant	rs781983
Chromosome Location	chr6:71377377-71377378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:71376772-71378355	GM12892	blood:	n/a	n/a
2	MYC	chr6:71377343-71377589	MCF10A-Er-Src	breast:	n/a	n/a
3	MEF2A	chr6:71377280-71377688	GM12878	blood:	n/a	n/a
4	MXI1	chr6:71377057-71378418	Hela-S3	cervix:	n/a	n/a
5	ELF1	chr6:71377072-71377850	HCT-116	colon:	n/a	chr6:71377456-71377465 chr6:71377088-71377099 chr6:71377683-71377692 chr6:71377455-71377466 chr6:71377636-71377645
6	CHD1	chr6:71377142-71377462	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr6:71377086-71378032	ECC-1	luminal epithelium:	n/a	n/a
8	ELF1	chr6:71377236-71377817	SK-N-SH	brain:	n/a	chr6:71377456-71377465 chr6:71377683-71377692 chr6:71377455-71377466 chr6:71377636-71377645
9	MAX	chr6:71376971-71378309	ECC-1	luminal epithelium:	n/a	n/a
10	E2F4	chr6:71377269-71378419	K562	blood:	n/a	chr6:71377411-71377420 chr6:71377988-71377997 chr6:71377640-71377650 chr6:71378159-71378174
11	POLR2A	chr6:71377203-71378349	GM10847	blood:	n/a	n/a
12	POLR2A	chr6:71377169-71377790	HepG2	liver:	n/a	n/a
13	YY1	chr6:71377259-71377711	HCT-116	colon:	n/a	chr6:71377639-71377653 chr6:71377675-71377689 chr6:71377683-71377692 chr6:71377627-71377641
14	TBL1XR1	chr6:71377237-71377780	K562	blood:	n/a	n/a
15	RUNX3	chr6:71377105-71377877	GM12878	blood:	n/a	n/a
16	SP1	chr6:71377183-71377632	A549	lung:	n/a	chr6:71377489-71377498 chr6:71377488-71377502 chr6:71377532-71377546 chr6:71377482-71377496 chr6:71377481-71377493 chr6:71377483-71377492
17	POLR2A	chr6:71377101-71377910	GM12878	blood:	n/a	n/a
18	GABPA	chr6:71377086-71377780	SK-N-SH	brain:	n/a	chr6:71377410-71377419 chr6:71377412-71377421 chr6:71377410-71377424 chr6:71377407-71377421 chr6:71377410-71377421
19	POLR2A	chr6:71377220-71378526	IMR90	lung:	n/a	n/a
20	SIN3AK20	chr6:71377281-71378302	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr6:71377185-71377887	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr6:71377168-71378330	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr6:71377134-71377793	K562	blood:	n/a	chr6:71377707-71377717
24	TAF1	chr6:71377203-71377718	SK-N-SH	brain:	n/a	n/a
25	CHD2	chr6:71377262-71377917	HepG2	liver:	n/a	chr6:71377707-71377717
26	POLR2A	chr6:71377129-71378340	GM18526	blood:	n/a	n/a
27	MXI1	chr6:71377009-71378379	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:71377174-71377504	GM12891	blood:	n/a	n/a
29	HEY1	chr6:71377202-71377997	HepG2	liver:	n/a	chr6:71377900-71377915 chr6:71377909-71377924 chr6:71377419-71377434 chr6:71377663-71377678
30	MYC	chr6:71377087-71377689	H1-hESC	embryonic stem cell:	n/a	n/a
31	KAP1	chr6:71377059-71377460	U2OS	brain:	n/a	n/a
32	POLR2A	chr6:71376804-71377857	K562	blood:	n/a	n/a
33	TBL1XR1	chr6:71377328-71377675	K562	blood:	n/a	n/a
34	TBP	chr6:71377126-71378396	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:71377150-71377819	U87	brain:	n/a	n/a
36	PML	chr6:71377295-71377897	MCF-7	breast:	n/a	n/a
37	YY1	chr6:71377213-71377980	GM12878	blood:	n/a	chr6:71377639-71377653 chr6:71377675-71377689 chr6:71377683-71377692 chr6:71377902-71377913 chr6:71377627-71377641
38	ZNF143	chr6:71376986-71377700	K562	blood:	n/a	chr6:71377388-71377406
39	ELK1	chr6:71377103-71377765	GM12878	blood:	n/a	n/a
40	YY1	chr6:71377176-71377914	GM12878	blood:	n/a	chr6:71377639-71377653 chr6:71377675-71377689 chr6:71377683-71377692 chr6:71377902-71377913 chr6:71377627-71377641
41	SP1	chr6:71377377-71377750	GM12878	blood:	n/a	chr6:71377489-71377498 chr6:71377707-71377719 chr6:71377488-71377502 chr6:71377532-71377546 chr6:71377708-71377717 chr6:71377482-71377496 chr6:71377709-71377718 chr6:71377481-71377493 chr6:71377483-71377492 chr6:71377708-71377717
42	YY1	chr6:71377105-71378331	H1-hESC	embryonic stem cell:	n/a	chr6:71377639-71377653 chr6:71377979-71377993 chr6:71377675-71377689 chr6:71377683-71377692 chr6:71377902-71377913 chr6:71377627-71377641 chr6:71378027-71378036
43	SMARCB1	chr6:71377119-71378432	Hela-S3	cervix:	n/a	n/a
44	TEAD4	chr6:71376967-71377798	K562	blood:	n/a	n/a
45	SPI1	chr6:71377334-71377491	K562	blood:	n/a	chr6:71377478-71377491
46	MAZ	chr6:71376982-71378452	IMR90	lung:	n/a	n/a
47	E2F6	chr6:71377064-71378275	K562	blood:	n/a	chr6:71377411-71377420 chr6:71377988-71377997 chr6:71377640-71377650 chr6:71378159-71378174
48	EGR1	chr6:71377374-71377692	GM12878	blood:	n/a	chr6:71377564-71377578 chr6:71377411-71377420 chr6:71377484-71377497
49	POLR2A	chr6:71377156-71377868	U87	brain:	n/a	n/a
50	MTA3	chr6:71376710-71378399	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:71377345-71377395	HAEpiC	amniotic membrane:	n/a
2	chr6:71377345-71377395	SK-N-SH_RA	brain:	n/a
3	chr6:71377345-71377395	AG09319	gingival:	n/a
4	chr6:71377345-71377395	GM12878	blood:	n/a
5	chr6:71377345-71377395	HEEpiC	esophagus:	n/a
6	chr6:71377345-71377395	HRPEpiC	eye:	n/a
7	chr6:71377345-71377395	K562	blood:	n/a
8	chr6:71377345-71377395	HCPEpiC	choroid plexus:	n/a
9	chr6:71377345-71377395	AoSMC	blood vessel:	n/a
10	chr6:71377345-71377395	T-47D	breast:	n/a
11	chr6:71377345-71377395	ProgFib	skin:	n/a
12	chr6:71377345-71377395	SAEC	small airway:	n/a
13	chr6:71377345-71377395	SKMC	muscle:	n/a
14	chr6:71377345-71377395	IMR90	lung:	fetal
15	chr6:71377345-71377395	AG04449	skin:	fetal
16	chr6:71377345-71377395	NHDF-neo	bronchial:	n/a
17	chr6:71377345-71377395	Hepatocyte	liver:	n/a
18	chr6:71377345-71377395	ovcar-3	ovarian:	n/a
19	chr6:71377345-71377395	SK-N-SH	brain:	n/a
20	chr6:71377345-71377395	HCM	heart:	n/a
21	chr6:71377345-71377395	HepG2	liver:	n/a
22	chr6:71377345-71377395	HNPCEpiC	eye:	n/a
23	chr6:71377345-71377395	SK-N-MC	brain:	n/a
24	chr6:71377345-71377395	AG09309	skin:	n/a
25	chr6:71377345-71377395	NT2-D1	testis:	n/a
26	chr6:71377345-71377395	HCT-116	colon:	n/a
27	chr6:71377345-71377395	HMEC	breast:	n/a
28	chr6:71377345-71377395	MCF-7	breast:	n/a
29	chr6:71377345-71377395	U87	brain:	n/a
30	chr6:71377345-71377395	MCF10A-Er-Src	breast:	n/a
31	chr6:71377345-71377395	HIPEpiC	eye:	n/a
32	chr6:71377345-71377395	ECC-1	luminal epithelium:	n/a
33	chr6:71377345-71377395	PFSK-1	brain:	n/a
34	chr6:71377345-71377395	GM19239	blood:	n/a
35	chr6:71377345-71377395	PANC-1	pancreas:	n/a
36	chr6:71377345-71377395	PrEC	prostate:	n/a
37	chr6:71377345-71377395	LNCaP	prostate:	n/a
38	chr6:71377345-71377395	CMK	blood:	n/a
39	chr6:71377345-71377395	RPTEC	kidney:	n/a
40	chr6:71377345-71377395	A549	lung:	n/a
41	chr6:71377345-71377395	H1-hESC	embryonic stem cell:	embryo
42	chr6:71377345-71377395	HUVEC	blood vessel:	n/a
43	chr6:71377345-71377395	BJ	skin:	n/a
44	chr6:71377345-71377395	HCF	heart:	n/a
45	chr6:71377345-71377395	NHBE	bronchial:	n/a
46	chr6:71377345-71377395	HEK293	kidney:	embryo
47	chr6:71377345-71377395	AG10803	skin:	n/a
48	chr6:71377345-71377395	Jurkat	blood:	n/a
49	chr6:71377345-71377395	Hela-S3	cervix:	n/a
50	chr6:71377345-71377395	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:139554231..139554819-chr6:71377322..71378009,2	Hela-S3	cervix:
2	chr1:144533823..144534453-chr6:71376836..71377641,2	Hela-S3	cervix:
3	chr6:71103256..71105709-chr6:71376472..71378763,2	K562	blood:
4	chr1:28832329..28832880-chr6:71377281..71377958,2	HCT-116	colon:
5	chr6:71275193..71277991-chr6:71376243..71378994,4	MCF-7	breast:
6	chr6:71376701..71377682-chr7:112090304..112090893,2	Hela-S3	cervix:

Variant related genes	Relation type
SMAP1	TF binding region
SLC25A6P6	TF binding region
SMAP1	CpG island
SLC25A6P6	CpG island
ENSG00000120306	Chromatin interaction
ENSG00000180198	Chromatin interaction
ENSG00000006652	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000242125	Chromatin interaction
ENSG00000154079	Chromatin interaction
ENSG00000237643	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1024211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10428835	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10455229	0.89[ASN][1000 genomes]
rs10455707	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10455708	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10498874	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10498875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10498876	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10738047	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10755541	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10755543	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10806635	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10806636	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1084381	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1084384	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1084387	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1084388	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1084389	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1084390	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10945239	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10945242	0.80[LWK][hapmap];0.82[YRI][hapmap]
rs10945243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10945244	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10945245	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10945246	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10945247	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10945248	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10945254	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10945261	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10945262	1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10945263	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12190987	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12191175	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12191208	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12195774	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12197239	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12202843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12203399	0.81[MEX][hapmap]
rs12204418	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12207501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12208797	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12209357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12209431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12211207	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs12212629	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12215467	0.80[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap]
rs12215757	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12215835	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.92[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap];0.81[AMR][1000 genomes]
rs12215915	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs13207111	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1333964	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1333967	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1541127	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1577108	0.81[MEX][hapmap]
rs1577109	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1577110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17694765	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2249159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2347431	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347432	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2347433	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2460689	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs2474912	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2474913	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs2474917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2504756	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap]
rs2504757	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28488598	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35251287	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4282370	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4404740	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4410689	0.86[AMR][1000 genomes]
rs4580826	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4613778	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4616957	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4706458	0.81[MEX][hapmap]
rs4706461	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4706462	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4706463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4706464	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.88[ASN][1000 genomes]
rs4707847	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4707851	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4707855	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.90[ASN][1000 genomes]
rs4707856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4707857	0.88[ASN][1000 genomes]
rs61051169	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62419706	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6455380	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6927575	0.82[JPT][hapmap]
rs7760267	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7771674	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7775813	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781963	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781965	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs781966	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781967	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781968	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781969	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781974	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781975	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs781977	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs781978	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs781979	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs781981	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs781982	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781984	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs781985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781987	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781990	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781991	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs781993	0.84[EUR][1000 genomes]
rs782002	0.96[CEU][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs782004	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs782005	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs9364106	0.82[JPT][hapmap]
rs9455215	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9455220	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027049	chr6:70961610-71561488	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv524328	chr6:70961833-71558805	Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917312	chr6:70961903-71601688	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv886147	chr6:71273253-71471863	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs781983	FAM135A	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71376400-71377400	Flanking Active TSS	Dnd41	blood
2	chr6:71376600-71377400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:71376600-71377400	Flanking Active TSS	Thymus	Thymus
4	chr6:71376600-71377400	Flanking Active TSS	Hela-S3	cervix
5	chr6:71376600-71377400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:71376600-71378400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:71376600-71378800	Active TSS	HSMMtube	muscle
8	chr6:71376600-71379400	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:71376800-71377400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:71376800-71377400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr6:71376800-71377400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:71376800-71377400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:71376800-71377400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr6:71376800-71377400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr6:71376800-71377400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:71376800-71377400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr6:71376800-71377400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:71376800-71377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:71376800-71377400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:71376800-71377400	Flanking Active TSS	Fetal Thymus	thymus
21	chr6:71376800-71377400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr6:71376800-71377400	Flanking Active TSS	HepG2	liver
23	chr6:71376800-71377400	Flanking Active TSS	HMEC	breast
24	chr6:71376800-71377400	Flanking Active TSS	K562	blood
25	chr6:71376800-71377400	Flanking Active TSS	Osteobl	bone
26	chr6:71376800-71378600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:71376800-71378800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:71376800-71378800	Active TSS	Fetal Muscle Trunk	muscle
29	chr6:71376800-71379000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:71376800-71379000	Active TSS	Rectal Smooth Muscle	rectum
31	chr6:71376800-71379200	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:71376800-71379200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:71376800-71379200	Active TSS	A549	lung
34	chr6:71377000-71377400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:71377000-71377400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr6:71377000-71377400	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr6:71377000-71377400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr6:71377000-71377400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr6:71377000-71377400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:71377000-71377400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:71377000-71377400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:71377000-71377400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr6:71377000-71377400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:71377000-71377400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:71377000-71377400	Flanking Active TSS	Pancreas	Pancrea
46	chr6:71377000-71377400	Flanking Active TSS	HUVEC	blood vessel
47	chr6:71377000-71377400	Flanking Active TSS	NH-A	brain
48	chr6:71377000-71377600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:71377000-71377600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:71377000-71377600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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