Variant report

Variant	rs7761532
Chromosome Location	chr6:37230331-37230332
allele	A/G
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	FOXA1	chr6:37230293-37230871	T-47D	breast:	n/a	chr6:37230633-37230648
2	SIN3AK20	chr6:37230295-37231008	MCF-7	breast:	n/a	n/a
3	GATA3	chr6:37230267-37230997	T-47D	breast:	n/a	chr6:37230350-37230357

No.	Distal block	Cell Line	Cell type
1	chr6:37228464..37231833-chr6:37231945..37233770,3	K562	blood:
2	chr6:37228429..37230381-chr6:37249969..37252001,2	MCF-7	breast:
3	chr6:37225685..37227248-chr6:37229703..37232212,2	MCF-7	breast:
4	chr6:37208961..37211353-chr6:37230274..37233612,3	K562	blood:
5	chr6:37229358..37230947-chr6:37264966..37266812,2	K562	blood:
6	chr6:37221803..37229301-chr6:37229686..37238425,11	K562	blood:
7	chr6:37217456..37219372-chr6:37229675..37232557,2	K562	blood:

Variant related genes	Relation type
TMEM217	TF binding region
ENSG00000238375	Chromatin interaction
ENSG00000172738	Chromatin interaction
ENSG00000065491	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs11752265	0.82[ASN][1000 genomes]
rs1224289	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1224384	0.82[ASN][1000 genomes]
rs149702	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149703	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149704	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149705	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149706	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149707	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149708	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149710	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149711	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149712	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149714	0.95[ASN][1000 genomes]
rs149715	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149716	0.82[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149718	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564502	0.81[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572438	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];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195370	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs195372	0.95[ASN][1000 genomes]
rs195412	0.95[ASN][1000 genomes]
rs195421	0.89[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195422	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195423	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195424	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195425	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195426	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195427	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195742	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195743	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs195744	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs195745	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195747	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs195748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195750	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195753	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195754	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs195756	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195757	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195758	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs195759	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs195763	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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2008782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295244	1.00[JPT][hapmap]
rs2622884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622892	0.89[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];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2622900	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs262899	0.91[CHD][hapmap];1.00[JPT][hapmap]
rs262920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262922	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs262923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262939	1.00[JPT][hapmap]
rs262942	1.00[JPT][hapmap]
rs2748332	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398739	0.82[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs410183	0.83[ASN][1000 genomes]
rs410193	0.85[ASN][1000 genomes]
rs410711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272216	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143230	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418343	0.95[ASN][1000 genomes]
rs425267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437956	0.83[ASN][1000 genomes]
rs441745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446344	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]
rs4711491	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711492	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714054	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714056	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60979150	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61357257	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457985	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6911196	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917404	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];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917722	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760945	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775913	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7761532	C6orf64	cis	cerebellum	SCAN
rs7761532	RNF8	cis	cerebellum	SCAN
rs7761532	TMEM217	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37226400-37231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:37226400-37244000	Weak transcription	Gastric	stomach
3	chr6:37226400-37247200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:37226400-37250400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:37226600-37232000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:37226600-37232200	Weak transcription	Ovary	ovary
7	chr6:37226600-37232600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:37226600-37234400	Weak transcription	Fetal Intestine Small	intestine
9	chr6:37226600-37237000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:37226600-37237400	Weak transcription	Placenta	Placenta
11	chr6:37226600-37237400	Weak transcription	HSMM	muscle
12	chr6:37226600-37240200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:37226600-37240200	Weak transcription	Aorta	Aorta
14	chr6:37226600-37243000	Weak transcription	Pancreas	Pancrea
15	chr6:37226600-37247200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:37226600-37247200	Weak transcription	Esophagus	oesophagus
17	chr6:37226600-37250000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:37226600-37259400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:37226800-37230400	Weak transcription	Thymus	Thymus
20	chr6:37226800-37237400	Weak transcription	NHDF-Ad	bronchial
21	chr6:37226800-37247000	Weak transcription	HSMMtube	muscle
22	chr6:37227000-37230400	Weak transcription	Fetal Brain Female	brain
23	chr6:37227000-37230400	Weak transcription	Small Intestine	intestine
24	chr6:37227000-37236800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:37227000-37237000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:37227000-37247200	Weak transcription	Right Atrium	heart
27	chr6:37227000-37250000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:37227200-37232400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:37227200-37237200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:37227200-37237400	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:37227200-37238400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:37227200-37241400	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:37227200-37247200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:37227200-37247200	Weak transcription	Brain Substantia Nigra	brain
35	chr6:37227200-37247200	Weak transcription	NHLF	lung
36	chr6:37227200-37250200	Weak transcription	Brain Angular Gyrus	brain
37	chr6:37227400-37231600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:37227400-37232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:37227400-37232600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:37227400-37232600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:37227400-37234200	Weak transcription	Fetal Stomach	stomach
42	chr6:37227400-37234400	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:37227400-37235600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:37227400-37235800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:37227400-37236000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:37227400-37236600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:37227400-37237000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr6:37227400-37237000	Weak transcription	Osteobl	bone
49	chr6:37227400-37237200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:37227400-37237400	Weak transcription	NH-A	brain

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