Variant report

Variant	rs7719190
Chromosome Location	chr5:37726284-37726285
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10038414	1.00[EUR][1000 genomes]
rs10039768	1.00[EUR][1000 genomes]
rs10042970	1.00[EUR][1000 genomes]
rs10043213	1.00[EUR][1000 genomes]
rs10050392	1.00[EUR][1000 genomes]
rs10050932	1.00[EUR][1000 genomes]
rs10051811	1.00[EUR][1000 genomes]
rs10053094	1.00[EUR][1000 genomes]
rs10055123	1.00[EUR][1000 genomes]
rs10055301	1.00[EUR][1000 genomes]
rs10055334	1.00[EUR][1000 genomes]
rs10055747	1.00[EUR][1000 genomes]
rs10058062	1.00[EUR][1000 genomes]
rs10059214	1.00[EUR][1000 genomes]
rs10060693	1.00[EUR][1000 genomes]
rs10063001	1.00[EUR][1000 genomes]
rs10067239	1.00[EUR][1000 genomes]
rs10067869	1.00[EUR][1000 genomes]
rs10071967	1.00[EUR][1000 genomes]
rs10074536	1.00[EUR][1000 genomes]
rs10075851	1.00[EUR][1000 genomes]
rs10076872	1.00[EUR][1000 genomes]
rs10078503	1.00[EUR][1000 genomes]
rs1104717	1.00[EUR][1000 genomes]
rs1104718	1.00[EUR][1000 genomes]
rs12332422	1.00[EUR][1000 genomes]
rs12332493	1.00[EUR][1000 genomes]
rs1400855	1.00[EUR][1000 genomes]
rs16903667	1.00[EUR][1000 genomes]
rs16903675	1.00[EUR][1000 genomes]
rs16903689	1.00[EUR][1000 genomes]
rs16903703	1.00[EUR][1000 genomes]
rs16903704	1.00[EUR][1000 genomes]
rs16903706	1.00[EUR][1000 genomes]
rs1829294	1.00[EUR][1000 genomes]
rs1973713	1.00[EUR][1000 genomes]
rs28876205	1.00[EUR][1000 genomes]
rs475517	1.00[EUR][1000 genomes]
rs481834	1.00[EUR][1000 genomes]
rs488315	1.00[EUR][1000 genomes]
rs489123	1.00[EUR][1000 genomes]
rs563999	1.00[EUR][1000 genomes]
rs587641	1.00[EUR][1000 genomes]
rs596461	1.00[EUR][1000 genomes]
rs61748201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs626649	1.00[EUR][1000 genomes]
rs6451332	1.00[EUR][1000 genomes]
rs6451340	0.98[AFR][1000 genomes]
rs671077	1.00[EUR][1000 genomes]
rs6859972	1.00[EUR][1000 genomes]
rs6863124	1.00[EUR][1000 genomes]
rs6863547	1.00[EUR][1000 genomes]
rs6869762	0.81[AFR][1000 genomes]
rs6888597	1.00[EUR][1000 genomes]
rs6898225	1.00[EUR][1000 genomes]
rs6898271	1.00[EUR][1000 genomes]
rs7708301	1.00[EUR][1000 genomes]
rs7708708	1.00[EUR][1000 genomes]
rs7710547	1.00[EUR][1000 genomes]
rs7714066	1.00[EUR][1000 genomes]
rs7722722	0.95[AFR][1000 genomes]
rs7723389	1.00[EUR][1000 genomes]
rs7725297	1.00[EUR][1000 genomes]
rs7727291	1.00[EUR][1000 genomes]
rs7727603	1.00[EUR][1000 genomes]
rs7729195	1.00[EUR][1000 genomes]
rs7732315	1.00[EUR][1000 genomes]
rs7734593	1.00[EUR][1000 genomes]
rs7736605	1.00[EUR][1000 genomes]
rs7736862	1.00[EUR][1000 genomes]
rs7737210	1.00[EUR][1000 genomes]
rs7737986	1.00[EUR][1000 genomes]
rs9292658	1.00[EUR][1000 genomes]
rs9292659	1.00[EUR][1000 genomes]
rs9292660	1.00[EUR][1000 genomes]
rs9292661	1.00[EUR][1000 genomes]
rs9292663	1.00[EUR][1000 genomes]
rs951579	1.00[EUR][1000 genomes]
rs9764529	0.93[AFR][1000 genomes]

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	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685600-37727000	Weak transcription	Lung	lung
3	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
5	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
9	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
11	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
14	chr5:37718200-37727000	Weak transcription	Fetal Brain Female	brain
15	chr5:37718200-37727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:37718200-37727400	Weak transcription	Brain Germinal Matrix	brain
17	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
18	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
20	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
21	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
22	chr5:37718600-37726800	Weak transcription	Liver	Liver
23	chr5:37718800-37735600	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:37718800-37735600	Weak transcription	Fetal Heart	heart
25	chr5:37719000-37727000	Weak transcription	Fetal Lung	lung
26	chr5:37719200-37727000	Weak transcription	Fetal Intestine Large	intestine
27	chr5:37719200-37727000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:37719400-37743000	Weak transcription	Fetal Intestine Small	intestine
29	chr5:37720800-37730000	Strong transcription	Primary T cells from cord blood	blood
30	chr5:37721200-37728400	Strong transcription	Left Ventricle	heart
31	chr5:37721200-37730200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:37721200-37731800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:37721200-37737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:37721800-37727000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:37721800-37727000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:37721800-37729400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:37721800-37731000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:37721800-37731200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:37722000-37726800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:37722000-37727400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:37722000-37729000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:37722000-37733600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:37722200-37726800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:37722200-37732200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:37722400-37727000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:37722400-37743200	Weak transcription	Esophagus	oesophagus
48	chr5:37722800-37731400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr5:37723000-37726800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:37723000-37727000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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