Variant report

Variant	rs12094663
Chromosome Location	chr1:47134321-47134322
allele	G/T
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	ELK1	chr1:47134287-47134366	K562	blood:	n/a	n/a
2	ZNF263	chr1:47133107-47134632	HEK293-T-REx	kidney:	n/a	chr1:47134151-47134160 chr1:47134012-47134021 chr1:47134006-47134015 chr1:47133684-47133693 chr1:47134009-47134018 chr1:47133276-47133285 chr1:47134255-47134264
3	MYBL2	chr1:47133821-47134324	HepG2	liver:	n/a	n/a
4	BRCA1	chr1:47134174-47134374	GM12878	blood:	n/a	n/a
5	CREB1	chr1:47133568-47134381	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:47133837-47134574	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:47133190-47134709	PBDE	blood:	n/a	n/a
8	PAX5	chr1:47133764-47134486	GM12878	blood:	n/a	chr1:47134081-47134090
9	POLR2A	chr1:47133379-47135115	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr1:47133797-47134617	GM12878	blood:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
11	POLR2A	chr1:47134112-47134490	U87	brain:	n/a	n/a
12	YY1	chr1:47133675-47134370	SK-N-SH_RA	brain:	n/a	chr1:47133998-47134007
13	MAZ	chr1:47133613-47134349	HepG2	liver:	n/a	chr1:47134154-47134164 chr1:47133999-47134009 chr1:47133687-47133697
14	PML	chr1:47133668-47134602	GM12878	blood:	n/a	n/a
15	E2F6	chr1:47133939-47134588	A549	lung:	n/a	chr1:47133996-47134006 chr1:47134283-47134293 chr1:47134001-47134010 chr1:47134280-47134292 chr1:47134282-47134293 chr1:47134281-47134292 chr1:47134079-47134088 chr1:47134159-47134168
16	POLR2A	chr1:47133831-47134584	PANC-1	pancreas:	n/a	n/a
17	CREB1	chr1:47133204-47134444	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:47133487-47134473	GM10847	blood:	n/a	n/a
19	YY1	chr1:47133511-47134343	HepG2	liver:	n/a	chr1:47133669-47133683 chr1:47133998-47134007
20	POLR2A	chr1:47133859-47134457	HL-60	blood:	n/a	n/a
21	TEAD4	chr1:47133879-47134437	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:47133470-47134599	MCF-7	breast:	n/a	n/a
23	POLR2A	chr1:47132948-47134691	GM12892	blood:	n/a	n/a
24	CREB1	chr1:47133768-47134445	A549	lung:	n/a	n/a
25	SMARCB1	chr1:47133244-47134441	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:47133221-47134734	GM19193	blood:	n/a	n/a
27	MYC	chr1:47133916-47134379	MCF-7	breast:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
28	NRF1	chr1:47133281-47134390	SK-N-SH	brain:	n/a	chr1:47134077-47134091 chr1:47133724-47133735 chr1:47134079-47134088
29	MAX	chr1:47133594-47134617	GM12878	blood:	n/a	chr1:47134154-47134164 chr1:47133999-47134009 chr1:47133687-47133697
30	POLR2A	chr1:47133485-47134462	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr1:47133550-47134830	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr1:47133584-47134473	A549	lung:	n/a	n/a
33	EBF1	chr1:47133882-47134644	GM12878	blood:	n/a	chr1:47134225-47134234 chr1:47134223-47134234
34	YY1	chr1:47133826-47134466	NT2-D1	testis:	n/a	chr1:47133998-47134007
35	TCF12	chr1:47133931-47134527	A549	lung:	n/a	n/a
36	MAX	chr1:47133777-47134661	A549	lung:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
37	POLR2A	chr1:47133535-47134544	GM15510	blood:	n/a	n/a
38	MXI1	chr1:47133237-47134459	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:47133674-47134397	A549	lung:	n/a	n/a
40	YY1	chr1:47133756-47134401	GM12878	blood:	n/a	chr1:47133998-47134007
41	POLR2A	chr1:47133670-47134466	HUVEC	blood vessel:	n/a	n/a
42	YY1	chr1:47133648-47134399	GM12878	blood:	n/a	chr1:47133669-47133683 chr1:47133998-47134007
43	MYC	chr1:47133837-47134404	A549	lung:	n/a	chr1:47134154-47134164 chr1:47133999-47134009
44	POLR2A	chr1:47132830-47134920	GM12891	blood:	n/a	n/a
45	TCF12	chr1:47133747-47134386	ECC-1	luminal epithelium:	n/a	n/a
46	YY1	chr1:47133631-47134845	H1-hESC	embryonic stem cell:	n/a	chr1:47134579-47134587 chr1:47134573-47134592 chr1:47133669-47133683 chr1:47134580-47134590 chr1:47133998-47134007
47	POLR2A	chr1:47133660-47134423	A549	lung:	n/a	n/a
48	POLR2A	chr1:47134144-47134607	U87	brain:	n/a	n/a
49	POLR2A	chr1:47133441-47134434	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr1:47134140-47134421	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47134311-47134361	IMR90	lung:	fetal
2	chr1:47134311-47134361	Caco-2	colon:	n/a
3	chr1:47134311-47134361	AoSMC	blood vessel:	n/a
4	chr1:47134311-47134361	HepG2	liver:	n/a
5	chr1:47134311-47134361	HNPCEpiC	eye:	n/a
6	chr1:47134311-47134361	H1-hESC	embryonic stem cell:	embryo
7	chr1:47134311-47134361	PrEC	prostate:	n/a
8	chr1:47134311-47134361	HCPEpiC	choroid plexus:	n/a
9	chr1:47134311-47134361	SKMC	muscle:	n/a
10	chr1:47134311-47134361	HUVEC	blood vessel:	n/a
11	chr1:47134311-47134361	ProgFib	skin:	n/a
12	chr1:47134311-47134361	GM06990	blood:	n/a
13	chr1:47134311-47134361	NT2-D1	testis:	n/a
14	chr1:47134311-47134361	AG04450	lung:	fetal
15	chr1:47134311-47134361	PANC-1	pancreas:	n/a
16	chr1:47134311-47134361	GM12878	blood:	n/a
17	chr1:47134311-47134361	AG09319	gingival:	n/a
18	chr1:47134311-47134361	HIPEpiC	eye:	n/a
19	chr1:47134311-47134361	NHDF-neo	bronchial:	n/a
20	chr1:47134311-47134361	HRE	kidney:	n/a
21	chr1:47134311-47134361	RPTEC	kidney:	n/a
22	chr1:47134311-47134361	AG10803	skin:	n/a
23	chr1:47134311-47134361	AG09309	skin:	n/a
24	chr1:47134311-47134361	CMK	blood:	n/a
25	chr1:47134311-47134361	BJ	skin:	n/a
26	chr1:47134311-47134361	BE2_C	brain:	n/a
27	chr1:47134311-47134361	HL-60	blood:	n/a
28	chr1:47134311-47134361	ovcar-3	ovarian:	n/a
29	chr1:47134311-47134361	Hepatocyte	liver:	n/a
30	chr1:47134311-47134361	HCF	heart:	n/a
31	chr1:47134311-47134361	HCT-116	colon:	n/a
32	chr1:47134311-47134361	NH-A	brain:	n/a
33	chr1:47134311-47134361	LNCaP	prostate:	n/a
34	chr1:47134311-47134361	SK-N-SH_RA	brain:	n/a
35	chr1:47134311-47134361	NB4	blood:	n/a
36	chr1:47134311-47134361	ECC-1	luminal epithelium:	n/a
37	chr1:47134311-47134361	T-47D	breast:	n/a
38	chr1:47134311-47134361	HCM	heart:	n/a
39	chr1:47134311-47134361	K562	blood:	n/a
40	chr1:47134311-47134361	HRPEpiC	eye:	n/a
41	chr1:47134311-47134361	GM12891	blood:	n/a
42	chr1:47134311-47134361	Jurkat	blood:	n/a
43	chr1:47134311-47134361	MCF10A-Er-Src	breast:	n/a
44	chr1:47134311-47134361	HAEpiC	amniotic membrane:	n/a
45	chr1:47134311-47134361	SK-N-SH	brain:	n/a
46	chr1:47134311-47134361	HEK293	kidney:	embryo
47	chr1:47134311-47134361	GM19239	blood:	n/a
48	chr1:47134311-47134361	SAEC	small airway:	n/a
49	chr1:47134311-47134361	Hela-S3	cervix:	n/a
50	chr1:47134311-47134361	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr1:47131887..47139340-chr1:47181784..47186573,11	K562	blood:
2	chr1:47133847..47136859-chr1:47183270..47186412,3	K562	blood:
3	chr1:47133631..47136554-chr1:47137710..47141962,4	K562	blood:
4	chr1:47130612..47137538-chr1:47138503..47143012,9	K562	blood:
5	chr1:47134287..47136852-chr1:47138117..47139620,2	MCF-7	breast:
6	chr1:47077660..47081751-chr1:47132686..47135354,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233647	TF binding region
ATPAF1	TF binding region
TEX38	TF binding region
TEX38	CpG island
ATPAF1	CpG island
ENSG00000233647	CpG island
ENSG00000142961	Chromatin interaction
ENSG00000228237	Chromatin interaction
ENSG00000159658	Chromatin interaction
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10158678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10159351	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1025806	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs1048351	0.92[EUR][1000 genomes]
rs1048380	0.94[CEU][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes]
rs1075982	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs10789492	0.82[EUR][1000 genomes]
rs10789493	0.82[EUR][1000 genomes]
rs10890411	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890415	0.80[EUR][1000 genomes]
rs10890416	0.84[EUR][1000 genomes]
rs11211338	0.94[EUR][1000 genomes]
rs11211341	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11211344	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211346	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211349	0.80[EUR][1000 genomes]
rs11211354	0.82[EUR][1000 genomes]
rs1139758	0.91[EUR][1000 genomes]
rs1150064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1150068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11801316	0.94[EUR][1000 genomes]
rs11801419	0.88[EUR][1000 genomes]
rs11804665	0.91[EUR][1000 genomes]
rs12047537	0.92[EUR][1000 genomes]
rs12078635	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12082387	0.88[EUR][1000 genomes]
rs1258000	0.82[EUR][1000 genomes]
rs1258002	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1258052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1258053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1258054	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1258056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1258059	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1440485	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs1440486	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs1440489	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1440490	0.84[CEU][hapmap]
rs1440491	0.81[EUR][1000 genomes]
rs17102352	0.91[EUR][1000 genomes]
rs17102355	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs17102428	0.94[CEU][hapmap]
rs17102473	0.90[EUR][1000 genomes]
rs1745377	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1933933	0.92[EUR][1000 genomes]
rs1962900	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1971519	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs2083486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119301	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2218189	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2241862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289446	0.92[EUR][1000 genomes]
rs2289447	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs2304745	0.94[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2405026	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2405030	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34932727	0.92[EUR][1000 genomes]
rs3737731	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs3766211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3766214	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3766215	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs3766217	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs3766219	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3766224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4272563	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4274009	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs4301586	0.94[EUR][1000 genomes]
rs4412540	0.80[EUR][1000 genomes]
rs4443838	0.92[EUR][1000 genomes]
rs55914029	0.90[EUR][1000 genomes]
rs56319728	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58185502	0.90[EUR][1000 genomes]
rs585257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs594118	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs595813	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59881815	0.92[EUR][1000 genomes]
rs60173509	0.92[EUR][1000 genomes]
rs60675294	0.93[EUR][1000 genomes]
rs611468	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs614486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61782563	0.93[EUR][1000 genomes]
rs61782564	0.93[EUR][1000 genomes]
rs61782568	0.93[EUR][1000 genomes]
rs61782590	0.81[EUR][1000 genomes]
rs61784001	0.92[EUR][1000 genomes]
rs61784002	0.92[EUR][1000 genomes]
rs61784003	0.94[EUR][1000 genomes]
rs618554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs618878	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs620431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs620913	0.94[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs625507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs625590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs637760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638845	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6429607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6429608	0.86[EUR][1000 genomes]
rs6429609	0.89[EUR][1000 genomes]
rs6429610	0.83[EUR][1000 genomes]
rs647999	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666405	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6667885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6669393	0.91[EUR][1000 genomes]
rs6670495	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs6671005	0.93[EUR][1000 genomes]
rs6671124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6688195	0.93[EUR][1000 genomes]
rs6690193	0.81[EUR][1000 genomes]
rs723334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs723690	0.89[CEU][hapmap];0.93[GIH][hapmap];0.82[EUR][1000 genomes]
rs732539	0.94[EUR][1000 genomes]
rs7354865	0.94[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs7354894	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7412469	0.94[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs744096	0.94[CEU][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs7519866	0.86[EUR][1000 genomes]
rs7532601	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7534179	0.82[EUR][1000 genomes]
rs7541868	0.94[EUR][1000 genomes]
rs7553243	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8851	0.81[EUR][1000 genomes]
rs946320	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12094663	GPBP1L1	cis	parietal	SCAN
rs12094663	NSUN4	cis	cerebellum	SCAN
rs12094663	MKNK1	cis	cerebellum	SCAN
rs12094663	RNF220	cis	cerebellum	SCAN
rs12094663	TCTEX1D4	cis	parietal	SCAN
rs12094663	FAAH	cis	cerebellum	SCAN
rs12094663	AKR1A1	cis	cerebellum	SCAN
rs12094663	ATPAF1	cis	multi-tissue	Pritchard
rs12094663	KIAA0494	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47132600-47134800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:47132600-47134800	Active TSS	A549	lung
3	chr1:47132800-47134600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:47132800-47134600	Active TSS	Psoas Muscle	Psoas
5	chr1:47133000-47134400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:47133000-47134600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:47133000-47134600	Active TSS	Aorta	Aorta
8	chr1:47133000-47134800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:47133200-47134400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:47133200-47134400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:47133200-47134400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:47133200-47134400	Active TSS	HSMMtube	muscle
13	chr1:47133200-47134600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:47133200-47134600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr1:47133200-47134600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:47133200-47134600	Active TSS	Gastric	stomach
17	chr1:47133200-47134600	Active TSS	Ovary	ovary
18	chr1:47133200-47134800	Active TSS	Brain Cingulate Gyrus	brain
19	chr1:47133400-47134400	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:47133400-47134400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:47133400-47134400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:47133400-47134400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:47133400-47134400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:47133400-47134400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:47133400-47134400	Active TSS	Brain Germinal Matrix	brain
26	chr1:47133400-47134400	Active TSS	Colonic Mucosa	Colon
27	chr1:47133400-47134400	Active TSS	Colon Smooth Muscle	Colon
28	chr1:47133400-47134400	Active TSS	Fetal Stomach	stomach
29	chr1:47133400-47134400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr1:47133400-47134400	Active TSS	Small Intestine	intestine
31	chr1:47133400-47134400	Active TSS	Hela-S3	cervix
32	chr1:47133400-47134400	Active TSS	NHLF	lung
33	chr1:47133400-47134600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:47133400-47134600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:47133400-47134600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:47133400-47134600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:47133400-47134600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:47133400-47134600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:47133400-47134600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:47133400-47134600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:47133400-47134600	Active TSS	Esophagus	oesophagus
42	chr1:47133400-47134600	Active TSS	Fetal Brain Male	brain
43	chr1:47133400-47134600	Active TSS	Fetal Brain Female	brain
44	chr1:47133400-47134600	Active TSS	Fetal Intestine Large	intestine
45	chr1:47133400-47134600	Active TSS	Left Ventricle	heart
46	chr1:47133400-47134600	Active TSS	Right Ventricle	heart
47	chr1:47133400-47134600	Active TSS	Thymus	Thymus
48	chr1:47133400-47134600	Active TSS	HSMM	muscle
49	chr1:47133400-47134600	Active TSS	NHDF-Ad	bronchial
50	chr1:47133400-47134800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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