Variant report

Variant	rs1424752
Chromosome Location	chr11:57479848-57479849
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	YY1	chr11:57479317-57480518	K562	blood:	n/a	chr11:57479725-57479734 chr11:57480086-57480098
2	ELK1	chr11:57479349-57480315	GM12878	blood:	n/a	n/a
3	MYC	chr11:57479230-57480552	K562	blood:	n/a	n/a
4	MXI1	chr11:57479125-57480793	K562	blood:	n/a	n/a
5	SIX5	chr11:57479628-57480066	GM12878	blood:	n/a	n/a
6	NFIC	chr11:57479637-57480176	GM12878	blood:	n/a	n/a
7	TAF1	chr11:57479348-57480492	A549	lung:	n/a	n/a
8	BCL3	chr11:57479293-57480159	GM12878	blood:	n/a	chr11:57479657-57479666
9	TAF1	chr11:57479266-57479893	H1-neurons	neurons:	n/a	n/a
10	NRF1	chr11:57479812-57479959	K562	blood:	n/a	n/a
11	MAX	chr11:57479099-57480555	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr11:57479378-57480369	GM12891	blood:	n/a	chr11:57479725-57479734 chr11:57480086-57480098
13	MXI1	chr11:57478662-57480846	IMR90	lung:	n/a	n/a
14	POU2F2	chr11:57479310-57480500	GM12878	blood:	n/a	chr11:57480033-57480045 chr11:57479693-57479703
15	CREB1	chr11:57479023-57480405	A549	lung:	n/a	n/a
16	PBX3	chr11:57479102-57480292	SK-N-SH	brain:	n/a	chr11:57479902-57479922 chr11:57479400-57479409
17	YY1	chr11:57479435-57480449	SK-N-SH_RA	brain:	n/a	chr11:57479725-57479734 chr11:57480086-57480098
18	PBX3	chr11:57479605-57480382	A549	lung:	n/a	chr11:57479902-57479922
19	YY1	chr11:57479624-57480258	HCT-116	colon:	n/a	chr11:57479725-57479734 chr11:57480086-57480098
20	MYBL2	chr11:57479425-57480427	HepG2	liver:	n/a	n/a
21	GABPA	chr11:57479653-57480240	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr11:57479257-57480599	PBDE	blood:	n/a	n/a
23	POLR2A	chr11:57479149-57480346	SK-N-SH	brain:	n/a	n/a
24	SRF	chr11:57479655-57480137	GM12878	blood:	n/a	chr11:57480031-57480041
25	RFX5	chr11:57479284-57480299	GM12878	blood:	n/a	chr11:57479339-57479355 chr11:57479331-57479346 chr11:57479330-57479347 chr11:57479331-57479346 chr11:57479331-57479346 chr11:57479400-57479409
26	POLR2A	chr11:57478868-57480666	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr11:57479512-57480271	ECC-1	luminal epithelium:	n/a	n/a
28	ETS1	chr11:57479644-57480278	A549	lung:	n/a	chr11:57479822-57479833 chr11:57480031-57480042
29	TAF1	chr11:57479347-57480490	ECC-1	luminal epithelium:	n/a	n/a
30	GABPA	chr11:57479115-57480762	A549	lung:	n/a	chr11:57479213-57479222
31	POLR2A	chr11:57479192-57480607	Raji	blood:	n/a	n/a
32	MAZ	chr11:57479184-57480698	IMR90	lung:	n/a	n/a
33	YY1	chr11:57479287-57480434	HepG2	liver:	n/a	chr11:57479725-57479734 chr11:57480086-57480098
34	SIX5	chr11:57479656-57480097	K562	blood:	n/a	n/a
35	POLR2A	chr11:57479290-57480473	GM19193	blood:	n/a	n/a
36	TAF1	chr11:57479403-57480499	K562	blood:	n/a	n/a
37	MAX	chr11:57479253-57480548	A549	lung:	n/a	n/a
38	POLR2A	chr11:57479166-57480392	K562	blood:	n/a	n/a
39	POLR2A	chr11:57479076-57480400	Hela-S3	cervix:	n/a	n/a
40	HCFC1	chr11:57478908-57481423	Hela-S3	cervix:	n/a	n/a
41	FOS	chr11:57479691-57480111	MCF10A-Er-Src	breast:	n/a	chr11:57479725-57479734 chr11:57480035-57480044
42	NFYA	chr11:57479288-57480226	GM12878	blood:	n/a	chr11:57479397-57479412 chr11:57479399-57479412 chr11:57479696-57479710 chr11:57479914-57479932 chr11:57479398-57479412 chr11:57479914-57479927 chr11:57479397-57479412
43	JUND	chr11:57479199-57480468	K562	blood:	n/a	chr11:57479725-57479734 chr11:57479399-57479408 chr11:57480035-57480044
44	POLR2A	chr11:57479288-57480401	K562	blood:	n/a	n/a
45	CEBPB	chr11:57479764-57480250	K562	blood:	n/a	n/a
46	BRCA1	chr11:57479220-57480636	Hela-S3	cervix:	n/a	n/a
47	SP2	chr11:57479826-57480094	K562	blood:	n/a	chr11:57479900-57479923
48	MYC	chr11:57479523-57480654	NB4	blood:	n/a	n/a
49	SRF	chr11:57479615-57480272	MCF-7	breast:	n/a	chr11:57480031-57480041
50	TBP	chr11:57479148-57480384	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57479802-57479852	ProgFib	skin:	n/a
2	chr11:57479802-57479852	K562	blood:	n/a
3	chr11:57479818-57479868	BE2_C	brain:	n/a
4	chr11:57479805-57479855	NT2-D1	testis:	n/a
5	chr11:57479818-57479868	NH-A	brain:	n/a
6	chr11:57479802-57479852	PrEC	prostate:	n/a
7	chr11:57479805-57479855	HNPCEpiC	eye:	n/a
8	chr11:57479802-57479852	HRCEpiC	kidney:	n/a
9	chr11:57479805-57479855	HCF	heart:	n/a
10	chr11:57479818-57479868	NB4	blood:	n/a
11	chr11:57479805-57479855	GM12892	blood:	n/a
12	chr11:57479802-57479852	ECC-1	luminal epithelium:	n/a
13	chr11:57479818-57479868	PANC-1	pancreas:	n/a
14	chr11:57479818-57479868	AG04450	lung:	fetal
15	chr11:57479805-57479855	PrEC	prostate:	n/a
16	chr11:57479802-57479852	HepG2	liver:	n/a
17	chr11:57479805-57479855	HRE	kidney:	n/a
18	chr11:57479802-57479852	RPTEC	kidney:	n/a
19	chr11:57479818-57479868	LNCaP	prostate:	n/a
20	chr11:57479802-57479852	Caco-2	colon:	n/a
21	chr11:57479805-57479855	HCM	heart:	n/a
22	chr11:57479805-57479855	AG10803	skin:	n/a
23	chr11:57479805-57479855	SK-N-MC	brain:	n/a
24	chr11:57479802-57479852	SKMC	muscle:	n/a
25	chr11:57479818-57479868	ProgFib	skin:	n/a
26	chr11:57479818-57479868	ovcar-3	ovarian:	n/a
27	chr11:57479802-57479852	A549	lung:	n/a
28	chr11:57479805-57479855	MCF-7	breast:	n/a
29	chr11:57479802-57479852	HEK293	kidney:	embryo
30	chr11:57479802-57479852	HCF	heart:	n/a
31	chr11:57479818-57479868	HCPEpiC	choroid plexus:	n/a
32	chr11:57479805-57479855	H1-hESC	embryonic stem cell:	embryo
33	chr11:57479818-57479868	HAEpiC	amniotic membrane:	n/a
34	chr11:57479805-57479855	U87	brain:	n/a
35	chr11:57479802-57479852	HNPCEpiC	eye:	n/a
36	chr11:57479818-57479868	IMR90	lung:	fetal
37	chr11:57479802-57479852	GM12892	blood:	n/a
38	chr11:57479805-57479855	AG09319	gingival:	n/a
39	chr11:57479802-57479852	HUVEC	blood vessel:	n/a
40	chr11:57479802-57479852	AoSMC	blood vessel:	n/a
41	chr11:57479818-57479868	U87	brain:	n/a
42	chr11:57479802-57479852	HEEpiC	esophagus:	n/a
43	chr11:57479805-57479855	T-47D	breast:	n/a
44	chr11:57479802-57479852	HAEpiC	amniotic membrane:	n/a
45	chr11:57479805-57479855	MCF10A-Er-Src	breast:	n/a
46	chr11:57479818-57479868	H1-hESC	embryonic stem cell:	embryo
47	chr11:57479802-57479852	PFSK-1	brain:	n/a
48	chr11:57479802-57479852	AG04449	skin:	fetal
49	chr11:57479818-57479868	AG10803	skin:	n/a
50	chr11:57479818-57479868	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57477767..57479895-chr11:57568305..57570936,2	K562	blood:
2	chr11:57435266..57437517-chr11:57478547..57480108,2	MCF-7	breast:
3	chr11:57478792..57480294-chr11:57529805..57532617,2	K562	blood:
4	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
5	chr11:57478353..57481972-chr11:57506953..57510365,5	MCF-7	breast:
6	chr11:57478395..57480567-chr11:57567397..57569805,2	K562	blood:
7	chr11:57433212..57437810-chr11:57477098..57481918,8	MCF-7	breast:
8	chr11:57479619..57480126-chr4:174255691..174256370,2	Hela-S3	cervix:
9	chr11:57478095..57482223-chr11:57507421..57512003,5	K562	blood:
10	chr11:57447901..57451282-chr11:57477513..57480655,3	K562	blood:
11	chr11:57478057..57480948-chr11:57506438..57510938,4	MCF-7	breast:
12	chr11:57479298..57481073-chr11:57485511..57487387,2	MCF-7	breast:
13	chr11:57478095..57481312-chr11:57507421..57511942,8	K562	blood:
14	chr11:57433936..57437289-chr11:57477964..57482818,9	K562	blood:
15	chr11:57433884..57439071-chr11:57477629..57483930,15	K562	blood:

Variant related genes	Relation type
TMX2	TF binding region
TMX2-CTNND1	TF binding region
MED19	TF binding region
TMX2	CpG island
MED19	CpG island
TMX2-CTNND1	CpG island
ENSG00000211450	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000213592	Chromatin interaction
ENSG00000164104	Chromatin interaction
ENSG00000134809	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10896634	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11229087	0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.88[ASN][1000 genomes]
rs11229115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267146	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12793139	0.89[JPT][hapmap]
rs2848445	0.86[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs479573	0.86[ASN][1000 genomes]
rs480933	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483030	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486995	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs491719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501054	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501738	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs503037	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];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs504311	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs504921	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs507946	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs509564	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs511708	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515939	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs517638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs518804	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527140	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[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];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530094	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536673	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537627	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs540234	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs541245	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544446	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549022	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];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs549279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs558653	0.86[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567017	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs577741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581217	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58132137	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs594233	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604094	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604344	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];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs608648	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609596	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs612688	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61888873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61888880	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs624759	0.84[ASN][1000 genomes]
rs627816	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs628100	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs636807	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs638864	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs640767	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs645097	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs647264	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs656227	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs658183	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs666021	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs669433	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];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs669950	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675154	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs676205	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs685110	0.80[AMR][1000 genomes]
rs7108113	0.84[ASN][1000 genomes]
rs72928102	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs96894	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv975360	chr11:57466716-57480320	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1424752	MED19	Cis_1M	lymphoblastoid	RTeQTL
rs1424752	OR4C11	cis	cerebellum	SCAN
rs1424752	MED19	cis	cerebellum	SCAN
rs1424752	YPEL4	cis	lymphoblastoid	seeQTL
rs1424752	SPRYD5	cis	cerebellum	SCAN
rs1424752	MED19	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57478400-57480800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:57478400-57481200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:57478400-57481800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr11:57478600-57480800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57478600-57480800	Active TSS	HSMMtube	muscle
6	chr11:57478600-57480800	Active TSS	NHLF	lung
7	chr11:57478600-57481000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:57478600-57481000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:57478600-57481000	Active TSS	HSMM	muscle
10	chr11:57478600-57481200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:57478600-57481200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:57478600-57481400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr11:57478600-57481600	Active TSS	K562	blood
14	chr11:57478600-57481800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr11:57478800-57480400	Active TSS	Brain Angular Gyrus	brain
16	chr11:57478800-57480600	Active TSS	Placenta Amnion	Placenta Amnion
17	chr11:57478800-57480800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:57478800-57480800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:57478800-57480800	Active TSS	Muscle Satellite Cultured Cells	--
20	chr11:57478800-57480800	Active TSS	NHDF-Ad	bronchial
21	chr11:57478800-57481000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:57478800-57481000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:57478800-57481000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:57478800-57481000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:57478800-57481000	Active TSS	Aorta	Aorta
26	chr11:57478800-57481000	Active TSS	Fetal Kidney	kidney
27	chr11:57478800-57481200	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:57478800-57481200	Active TSS	Ovary	ovary
29	chr11:57478800-57481200	Active TSS	A549	lung
30	chr11:57478800-57482000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:57478800-57482400	Active TSS	GM12878-XiMat	blood
32	chr11:57479000-57480200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:57479000-57480600	Active TSS	Brain Hippocampus Middle	brain
34	chr11:57479000-57480600	Active TSS	Fetal Brain Female	brain
35	chr11:57479000-57480800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr11:57479000-57480800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:57479000-57480800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57479000-57480800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:57479000-57480800	Active TSS	Brain Anterior Caudate	brain
40	chr11:57479000-57480800	Active TSS	Colon Smooth Muscle	Colon
41	chr11:57479000-57480800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:57479000-57480800	Active TSS	Fetal Brain Male	brain
43	chr11:57479000-57480800	Active TSS	Lung	lung
44	chr11:57479000-57480800	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:57479000-57480800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr11:57479000-57480800	Bivalent/Poised TSS	HepG2	liver
47	chr11:57479000-57480800	Active TSS	NH-A	brain
48	chr11:57479000-57480800	Active TSS	NHEK	skin
49	chr11:57479000-57480800	Active TSS	Osteobl	bone
50	chr11:57479000-57481000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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