Variant report

Variant	rs801191
Chromosome Location	chr7:66032955-66032956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10215132	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10234018	0.88[CEU][hapmap];0.80[CHB][hapmap];0.95[YRI][hapmap]
rs10242423	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10249404	0.89[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10252765	0.89[CEU][hapmap];0.81[CHB][hapmap];0.84[GIH][hapmap];0.81[LWK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap]
rs10253883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10255377	0.83[AMR][1000 genomes]
rs10258739	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10263935	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs10272357	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10278371	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10278816	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10281080	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10281646	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10950044	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10950045	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11765356	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11765965	0.87[YRI][hapmap]
rs11772179	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11773829	0.81[AFR][1000 genomes]
rs12532355	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532998	0.91[LWK][hapmap];0.86[YRI][hapmap]
rs12533585	0.83[AFR][1000 genomes]
rs12534943	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12698520	0.86[LWK][hapmap]
rs12698534	0.84[AFR][1000 genomes]
rs13224319	0.80[AFR][1000 genomes]
rs13227951	0.84[GIH][hapmap]
rs13308803	0.83[CEU][hapmap]
rs1553610	0.81[CHB][hapmap];0.88[YRI][hapmap]
rs1860468	0.81[AFR][1000 genomes]
rs1860470	0.82[AFR][1000 genomes]
rs1968127	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1968225	0.86[YRI][hapmap]
rs2013222	0.89[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs2191268	0.89[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs2244022	1.00[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs2286683	0.89[CEU][hapmap]
rs2302918	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs2707845	0.85[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap]
rs2707852	0.83[YRI][hapmap]
rs2707853	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap]
rs2707854	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.83[LWK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap]
rs2707856	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.83[LWK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap]
rs28846700	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35117338	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3735148	0.90[LWK][hapmap];0.85[YRI][hapmap]
rs3764903	0.89[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.94[LWK][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs3800812	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap]
rs3800820	0.88[CEU][hapmap];0.85[CHB][hapmap];0.95[YRI][hapmap]
rs3857686	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3898855	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4398788	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4718378	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62465434	0.80[AFR][1000 genomes]
rs62467809	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62467857	0.82[AMR][1000 genomes]
rs6460296	0.82[YRI][hapmap]
rs6460305	0.89[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.94[LWK][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6460308	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap]
rs66525610	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6943696	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6945019	0.86[YRI][hapmap]
rs6945032	0.85[YRI][hapmap]
rs6947808	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952407	0.85[CEU][hapmap];0.95[YRI][hapmap]
rs6957199	0.80[AFR][1000 genomes]
rs6958271	0.80[AFR][1000 genomes]
rs6958520	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.91[LWK][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap]
rs6960778	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6961186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965056	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6967809	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6968619	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6970860	0.80[AFR][1000 genomes]
rs6977632	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71563125	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs732465	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785213	0.82[AFR][1000 genomes]
rs778722	0.85[YRI][hapmap]
rs7789768	0.90[LWK][hapmap];0.86[YRI][hapmap]
rs7793569	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs801190	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs801193	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs801196	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs801205	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs801207	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs801211	0.83[AFR][1000 genomes]
rs801216	0.82[AFR][1000 genomes]
rs801217	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs810400	0.85[AFR][1000 genomes]
rs9986881	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs801191	RP4-756H11.3	cis	Thyroid	GTEx
rs801191	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs801191	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs801191	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs801191	RABGEF1	cis	parietal	SCAN
rs801191	RP4-756H11.3	cis	Artery Tibial	GTEx
rs801191	RP4-756H11.3	cis	lung	GTEx
rs801191	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs801191	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs801191	ZNF117	cis	cerebellum	SCAN
rs801191	ERV3	cis	cerebellum	SCAN
rs801191	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs801191	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs801191	GUSB	cis	parietal	SCAN
rs801191	ZNF92	cis	parietal	SCAN
rs801191	CRCP	cis	parietal	SCAN
rs801191	CRCP	cis	cerebellum	SCAN
rs801191	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs801191	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs801191	GUSB	cis	cerebellum	SCAN
rs801191	RP4-756H11.3	cis	Artery Aorta	GTEx
rs801191	ERV3	cis	parietal	SCAN
rs801191	ZNF117	cis	parietal	SCAN
rs801191	GTF2IRD1P1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
3	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:66011000-66037000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:66011600-66045000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:66019800-66036600	Weak transcription	HUVEC	blood vessel
7	chr7:66019800-66037400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:66020000-66036600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:66020000-66037400	Weak transcription	Small Intestine	intestine
10	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:66022000-66039000	Weak transcription	Aorta	Aorta
12	chr7:66022600-66035200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:66023000-66034600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:66023000-66036400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:66023000-66036600	Weak transcription	Brain Anterior Caudate	brain
16	chr7:66023000-66036600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:66023000-66037400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:66023000-66040800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:66023000-66041800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:66023200-66036800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr7:66023200-66043800	Weak transcription	Fetal Heart	heart
22	chr7:66023200-66044400	Weak transcription	Right Atrium	heart
23	chr7:66023200-66048400	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:66023200-66049800	Weak transcription	Stomach Mucosa	stomach
25	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
26	chr7:66023600-66042200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:66024000-66034200	Weak transcription	Brain Germinal Matrix	brain
28	chr7:66024000-66036600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:66024000-66036600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:66024000-66037200	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:66024000-66037200	Weak transcription	Colonic Mucosa	Colon
32	chr7:66024000-66037200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:66024000-66039000	Weak transcription	Right Ventricle	heart
34	chr7:66024000-66046400	Weak transcription	NHLF	lung
35	chr7:66024200-66033800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:66024200-66036600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:66024200-66037800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:66024200-66040400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr7:66024200-66051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:66024200-66055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:66024400-66036000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:66024400-66036000	Weak transcription	Fetal Brain Female	brain
44	chr7:66024400-66036800	Weak transcription	Esophagus	oesophagus
45	chr7:66024400-66037200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:66024400-66038800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:66024400-66051600	Weak transcription	Spleen	Spleen
48	chr7:66025200-66035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:66025200-66037200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:66026200-66033800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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