Variant report

Variant	rs7771484
Chromosome Location	chr6:36062991-36062992
allele	A/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	JUND	chr6:36062955-36063310	K562	blood:	n/a	n/a
2	POU2F2	chr6:36062870-36063252	GM12878	blood:	n/a	chr6:36063051-36063060 chr6:36063048-36063063 chr6:36063050-36063060 chr6:36063052-36063059 chr6:36063051-36063062 chr6:36063050-36063060 chr6:36063049-36063061
3	POLR2A	chr6:36062853-36063271	MCF-7	breast:	n/a	n/a
4	MAX	chr6:36062916-36063298	K562	blood:	n/a	n/a
5	ZNF143	chr6:36062733-36063313	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr6:36062961-36063319	K562	blood:	n/a	n/a
7	CTCF	chr6:36062960-36063110	WI-38	lung:	n/a	n/a
8	MAX	chr6:36062908-36063329	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr6:36062958-36063263	HUVEC	blood vessel:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
10	MAX	chr6:36062878-36063350	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr6:36062876-36063394	A549	lung:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
12	BRCA1	chr6:36062972-36063337	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr6:36062942-36063322	GM12878	blood:	n/a	n/a
14	E2F4	chr6:36062861-36063168	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT1	chr6:36062952-36063287	GM12878	blood:	n/a	n/a
16	CTCF	chr6:36062740-36063458	HCT-116	colon:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063445-36063453 chr6:36063127-36063140
17	BHLHE40	chr6:36062967-36063270	K562	blood:	n/a	n/a
18	MAX	chr6:36062921-36063313	NB4	blood:	n/a	n/a
19	RAD21	chr6:36062912-36063431	MCF-7	breast:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063405-36063417 chr6:36063127-36063141
20	SMC3	chr6:36062464-36063618	SK-N-SH	brain:	n/a	chr6:36063127-36063141
21	CTCF	chr6:36062962-36063312	Spleen_OC	spleen:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
22	MYC	chr6:36062953-36063285	MCF10A-Er-Src	breast:	n/a	n/a
23	CTCF	chr6:36062920-36063319	T-47D	breast:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
24	RAD21	chr6:36062904-36063332	Hela-S3	cervix:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
25	RAD21	chr6:36062739-36063407	HCT-116	colon:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
26	CTCF	chr6:36062955-36063242	A549	lung:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
27	ELK1	chr6:36062913-36063205	GM12878	blood:	n/a	n/a
28	RCOR1	chr6:36062980-36063261	K562	blood:	n/a	n/a
29	MAX	chr6:36062967-36063251	H1-hESC	embryonic stem cell:	n/a	n/a
30	WRNIP1	chr6:36062979-36063480	GM12878	blood:	n/a	n/a
31	SMC3	chr6:36062794-36064092	HepG2	liver:	n/a	chr6:36063127-36063141
32	MBD4	chr6:36062739-36064288	HepG2	liver:	n/a	n/a
33	CHD1	chr6:36062669-36063476	IMR90	lung:	n/a	n/a
34	E2F6	chr6:36062804-36063247	K562	blood:	n/a	n/a
35	RAD21	chr6:36062896-36063386	GM12878	blood:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
36	CTCF	chr6:36062896-36063424	MCF-7	breast:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
37	CTCF	chr6:36062933-36063253	K562	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
38	ARID3A	chr6:36062907-36063502	HepG2	liver:	n/a	n/a
39	CTCF	chr6:36062913-36063354	GM12878	blood:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
40	CTCF	chr6:36062945-36063287	HepG2	liver:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
41	ZMIZ1	chr6:36062978-36063336	K562	blood:	n/a	n/a
42	MAX	chr6:36062903-36063359	ECC-1	luminal epithelium:	n/a	n/a
43	YY1	chr6:36062980-36063206	K562	blood:	n/a	n/a
44	CTCF	chr6:36062943-36063285	ECC-1	luminal epithelium:	n/a	chr6:36063125-36063143 chr6:36063126-36063142 chr6:36063127-36063140 chr6:36063120-36063141 chr6:36063127-36063140
45	RAD21	chr6:36062900-36063344	HepG2	liver:	n/a	chr6:36063123-36063142 chr6:36063125-36063137 chr6:36063127-36063141
46	BCLAF1	chr6:36062902-36063320	GM12878	blood:	n/a	n/a
47	TBL1XR1	chr6:36062845-36063343	K562	blood:	n/a	n/a
48	MYC	chr6:36062903-36063311	K562	blood:	n/a	n/a
49	FOS	chr6:36062596-36063165	MCF10A-Er-Src	breast:	n/a	chr6:36062872-36062881
50	SMC3	chr6:36062906-36063342	GM12878	blood:	n/a	chr6:36063127-36063141

No.	Distal block	Cell Line	Cell type
1	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:
2	chr6:35994574..35998335-chr6:36060182..36063184,5	MCF-7	breast:
3	chr6:35991723..35998793-chr6:36060568..36068863,14	K562	blood:
4	chr6:35995438..35997054-chr6:36061422..36063465,2	MCF-7	breast:
5	chr6:35994867..35996026-chr6:36062591..36063691,9	MCF-7	breast:
6	chr6:35994808..35995783-chr6:36062478..36063591,11	K562	blood:
7	chr6:35916215..35917179-chr6:36062605..36063500,2	K562	blood:
8	chr6:36057741..36060174-chr6:36061007..36064556,3	MCF-7	breast:
9	chr6:36005324..36007275-chr6:36062983..36064976,2	K562	blood:
10	chr6:35994890..35995702-chr6:36062682..36063239,4	MCF-7	breast:
11	chr12:56519685..56520626-chr6:36062705..36063371,2	MCF-7	breast:
12	chr6:36043515..36044407-chr6:36062711..36063511,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237719	TF binding region
ENSG00000112053	Chromatin interaction
ENSG00000112062	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10456082	0.86[CHB][hapmap]
rs16883819	0.89[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs16883860	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs16883989	0.95[EUR][1000 genomes]
rs16884628	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884660	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16884906	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16884919	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1967966	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237094	0.88[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap]
rs2237096	0.95[EUR][1000 genomes]
rs3730327	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs3730366	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs3761980	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs3804451	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41271263	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56044978	0.97[EUR][1000 genomes]
rs56059109	0.95[EUR][1000 genomes]
rs56133220	0.95[EUR][1000 genomes]
rs56156688	0.95[EUR][1000 genomes]
rs56327416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362075	0.95[EUR][1000 genomes]
rs56413204	0.95[EUR][1000 genomes]
rs56715462	0.95[EUR][1000 genomes]
rs58390233	0.95[EUR][1000 genomes]
rs58583792	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs58690654	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60100837	0.95[EUR][1000 genomes]
rs60342497	0.92[EUR][1000 genomes]
rs60481532	0.95[EUR][1000 genomes]
rs60909394	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61195139	0.95[EUR][1000 genomes]
rs61212706	0.95[EUR][1000 genomes]
rs61364424	0.95[EUR][1000 genomes]
rs61763101	0.95[EUR][1000 genomes]
rs6457878	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6908622	0.95[EUR][1000 genomes]
rs6910685	0.95[EUR][1000 genomes]
rs6914570	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6921999	0.95[EUR][1000 genomes]
rs6930333	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs6932598	0.95[EUR][1000 genomes]
rs6934216	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[EUR][1000 genomes]
rs6936327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73407868	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs73407870	0.95[EUR][1000 genomes]
rs73407871	0.95[EUR][1000 genomes]
rs73407876	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73409842	0.95[EUR][1000 genomes]
rs73729685	0.95[EUR][1000 genomes]
rs73729698	0.95[EUR][1000 genomes]
rs73730437	0.95[EUR][1000 genomes]
rs73730440	0.95[EUR][1000 genomes]
rs73730459	0.97[EUR][1000 genomes]
rs7745082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7745536	0.89[CEU][hapmap];0.93[CHB][hapmap];0.95[EUR][1000 genomes]
rs7745927	0.95[EUR][1000 genomes]
rs7747846	0.95[EUR][1000 genomes]
rs7748078	0.95[EUR][1000 genomes]
rs7752459	1.00[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7759175	0.95[EUR][1000 genomes]
rs7760405	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7760578	0.95[EUR][1000 genomes]
rs7761118	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762483	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7764494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7766032	1.00[EUR][1000 genomes]
rs7769981	0.97[EUR][1000 genomes]
rs7770183	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7772088	0.95[EUR][1000 genomes]
rs7775290	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7771484	SLC26A8	cis	Thyroid	GTEx
rs7771484	SLC26A8	cis	Nerve Tibial	GTEx
rs7771484	SLC26A8	cis	multi-tissue	Pritchard
rs7771484	SLC26A8	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051400-36063400	Weak transcription	HUVEC	blood vessel
3	chr6:36051600-36067600	Weak transcription	Brain Substantia Nigra	brain
4	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:36051800-36070600	Weak transcription	Pancreas	Pancrea
6	chr6:36051800-36070600	Weak transcription	Psoas Muscle	Psoas
7	chr6:36051800-36070800	Weak transcription	Aorta	Aorta
8	chr6:36051800-36075800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:36052000-36063800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:36052000-36070600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:36052000-36070600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:36052000-36070600	Weak transcription	NHLF	lung
13	chr6:36052000-36070800	Weak transcription	Esophagus	oesophagus
14	chr6:36052000-36075200	Weak transcription	Right Ventricle	heart
15	chr6:36052200-36067400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:36052200-36070600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:36052200-36070800	Weak transcription	Gastric	stomach
18	chr6:36052200-36071400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:36052400-36063800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:36052800-36063000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:36053200-36063400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:36058000-36063200	Weak transcription	HSMMtube	muscle
23	chr6:36060200-36063400	Weak transcription	Left Ventricle	heart
24	chr6:36060200-36063400	Weak transcription	Hela-S3	cervix
25	chr6:36060200-36063800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:36060200-36075000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:36060600-36063200	Weak transcription	Thymus	Thymus
28	chr6:36060600-36064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:36060600-36070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:36060600-36071400	Weak transcription	Fetal Brain Female	brain
31	chr6:36060600-36080800	Weak transcription	Ovary	ovary
32	chr6:36060800-36063400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:36060800-36063800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:36060800-36067800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:36060800-36072000	Weak transcription	Brain Germinal Matrix	brain
36	chr6:36061000-36063000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:36061000-36063000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr6:36061000-36063600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:36061200-36063200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:36061200-36063400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:36061200-36063400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr6:36061200-36063400	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:36061200-36063400	Weak transcription	Lung	lung
44	chr6:36061200-36063400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:36061200-36063600	Weak transcription	Placenta	Placenta
46	chr6:36061200-36063800	Weak transcription	Spleen	Spleen
47	chr6:36061200-36068600	Weak transcription	Fetal Stomach	stomach
48	chr6:36061400-36063600	Weak transcription	Primary B cells from cord blood	blood
49	chr6:36061800-36063000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:36062000-36063400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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