Variant report

Variant	rs7718919
Chromosome Location	chr5:35855996-35855997
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10043573	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10053847	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10056484	0.87[AMR][1000 genomes]
rs10058680	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10059688	0.87[AMR][1000 genomes]
rs10070378	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10472264	0.87[AMR][1000 genomes]
rs10472989	0.87[AMR][1000 genomes]
rs10472990	0.87[AMR][1000 genomes]
rs1073290	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11567722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11567738	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11567754	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11567761	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12520952	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13154973	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13167136	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169780	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169814	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13170810	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13172065	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1389834	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1389835	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1494559	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899999	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1862632	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2228141	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34496007	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35467464	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35588638	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4521502	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4601063	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4869492	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66570838	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6888699	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6891095	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6892488	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7710177	0.87[AMR][1000 genomes]
rs7718489	0.90[EUR][1000 genomes]
rs7727750	0.87[AMR][1000 genomes]
rs9292618	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs969128	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881055	chr5:35850693-35858721	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881685	chr5:35850693-35859863	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv881358	chr5:35850693-35861068	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880610	chr5:35850693-35866265	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv880517	chr5:35850693-35870814	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv597813	chr5:35855264-35864590	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv597814	chr5:35855410-35859002	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35849600-35856200	Enhancers	Dnd41	blood
2	chr5:35851800-35856800	Enhancers	NHDF-Ad	bronchial
3	chr5:35852000-35856800	Enhancers	Primary B cells from cord blood	blood
4	chr5:35852400-35856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:35852400-35856600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:35852400-35859200	Weak transcription	Lung	lung
7	chr5:35852400-35862800	Enhancers	Hela-S3	cervix
8	chr5:35852600-35856400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:35852800-35856000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:35852800-35856600	Weak transcription	NH-A	brain
11	chr5:35852800-35857000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:35853000-35856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:35853000-35856400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:35853000-35856600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:35853000-35856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:35853000-35856800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:35853000-35857000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:35853600-35856800	Enhancers	Fetal Thymus	thymus
19	chr5:35853800-35856400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr5:35853800-35857200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:35853800-35858000	Enhancers	GM12878-XiMat	blood
22	chr5:35854200-35856400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:35854200-35856800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:35854200-35857000	Enhancers	NHEK	skin
25	chr5:35854200-35857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:35854400-35857200	Weak transcription	Esophagus	oesophagus
27	chr5:35854400-35857400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:35854800-35856000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr5:35854800-35856200	Weak transcription	HMEC	breast
30	chr5:35854800-35856600	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr5:35854800-35856800	Enhancers	Osteobl	bone
32	chr5:35854800-35857000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr5:35854800-35857000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr5:35854800-35857800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:35855000-35856000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr5:35855000-35857000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:35855200-35856800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:35855200-35857000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:35855400-35856400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:35855400-35856600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:35855400-35856600	Enhancers	NHLF	lung
42	chr5:35855400-35856800	Enhancers	HSMM	muscle
43	chr5:35855400-35862400	Enhancers	HSMMtube	muscle
44	chr5:35855600-35856200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:35855600-35856600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:35855600-35857000	Enhancers	A549	lung
47	chr5:35855800-35856000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:35855800-35856000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:35855800-35856000	Flanking Active TSS	Thymus	Thymus
50	chr5:35855800-35856200	Active TSS	Primary T cells fromperipheralblood	blood

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