Variant report

Variant	rs11764092
Chromosome Location	chr7:70197584-70197585
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10239618	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10247394	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10275631	0.82[AMR][1000 genomes]
rs10276074	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10282283	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10282512	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12533769	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666137	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698920	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13234828	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4717546	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4718986	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4718987	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718988	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718989	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4718990	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6966950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7790623	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7794301	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7805642	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7805679	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532783	chr7:69939570-70245396	Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv3341834	chr7:69968031-70288098	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532784	chr7:69969631-70204548	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025164	chr7:70061655-70469358	Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538931	chr7:70061655-70469358	Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1030496	chr7:70067475-70221743	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1017876	chr7:70073764-70434599	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1022747	chr7:70169254-70301285	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1834837	chr7:70171159-70202993	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1839975	chr7:70171159-70202993	Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1812409	chr7:70187264-70206903	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv429771	chr7:70188375-70294296	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv831022	chr7:70189351-70238179	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv916183	chr7:70189900-70220746	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1021274	chr7:70190293-70221743	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1034308	chr7:70190293-70230601	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv538934	chr7:70190293-70230601	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv607433	chr7:70190384-70223193	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1834245	chr7:70193768-70202993	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1836583	chr7:70193768-70202993	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1842252	chr7:70193768-70202993	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv820114	chr7:70194653-70203090	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv821229	chr7:70195665-70203118	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv17141	chr7:70195944-70203118	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3477332	chr7:70196062-70203142	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3477333	chr7:70196097-70203132	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3477334	chr7:70196200-70203036	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv607434	chr7:70196953-70202675	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1836714	chr7:70196953-70202993	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1838629	chr7:70196953-70202993	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv1839154	chr7:70196953-70202993	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv1839263	chr7:70196953-70202993	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1839872	chr7:70196953-70202993	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1840510	chr7:70196953-70202993	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv1840771	chr7:70196953-70202993	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1840883	chr7:70196953-70202993	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv1841139	chr7:70196953-70202993	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1841257	chr7:70196953-70202993	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv1841726	chr7:70196953-70202993	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1841919	chr7:70196953-70202993	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1842138	chr7:70196953-70202993	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1840382	chr7:70196953-70203673	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv1837102	chr7:70196953-70210959	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv1842517	chr7:70196953-70210959	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv1834531	chr7:70197277-70202675	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	esv1837568	chr7:70197277-70202675	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1840918	chr7:70197277-70202675	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
49	nsv442052	chr7:70197278-70202671	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1837873	chr7:70197584-70202245	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11764092	ELN	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70162200-70201600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:70176200-70201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:70179800-70201600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:70183000-70201600	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:70183200-70200200	Weak transcription	Ovary	ovary
6	chr7:70183200-70201800	Weak transcription	Pancreas	Pancrea
7	chr7:70183600-70197600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:70185800-70197600	Weak transcription	HSMMtube	muscle
9	chr7:70186400-70198200	Weak transcription	Dnd41	blood
10	chr7:70187000-70201200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:70190200-70201400	Weak transcription	Fetal Kidney	kidney
12	chr7:70190600-70199400	Weak transcription	Left Ventricle	heart
13	chr7:70190600-70199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:70190600-70201600	Weak transcription	Fetal Intestine Large	intestine
15	chr7:70190800-70198000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:70190800-70199400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:70192200-70200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:70192400-70198800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:70192400-70199400	Weak transcription	Fetal Heart	heart
20	chr7:70193000-70200600	Weak transcription	Liver	Liver
21	chr7:70194000-70199400	Weak transcription	NH-A	brain
22	chr7:70194200-70201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:70194400-70199000	Weak transcription	Psoas Muscle	Psoas
24	chr7:70194400-70199800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:70194400-70201400	Weak transcription	Fetal Lung	lung
26	chr7:70194400-70201600	Weak transcription	Gastric	stomach
27	chr7:70194400-70201800	Weak transcription	Colonic Mucosa	Colon
28	chr7:70194400-70201800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:70194400-70203000	Weak transcription	Fetal Stomach	stomach
30	chr7:70194400-70203400	Weak transcription	Lung	lung
31	chr7:70194600-70199400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:70194600-70201600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:70194800-70198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:70194800-70199400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:70194800-70200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:70194800-70201600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:70195000-70199400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:70195000-70199400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:70195000-70199400	Weak transcription	Fetal Brain Male	brain
40	chr7:70195000-70199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:70195000-70201400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr7:70195200-70201600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:70195600-70200200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:70195600-70201400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:70195600-70201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:70195800-70199800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:70195800-70199800	Weak transcription	NHEK	skin
48	chr7:70195800-70200000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:70195800-70227600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:70196000-70199200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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