Variant report

Variant	rs72690431
Chromosome Location	chr8:87516230-87516231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17609487	0.89[EUR][1000 genomes]
rs17609515	0.89[EUR][1000 genomes]
rs17682647	0.93[EUR][1000 genomes]
rs2119537	0.89[EUR][1000 genomes]
rs72688595	0.84[EUR][1000 genomes]
rs72688596	0.84[EUR][1000 genomes]
rs72688597	0.89[EUR][1000 genomes]
rs72688599	0.89[EUR][1000 genomes]
rs72688600	0.89[EUR][1000 genomes]
rs72688602	0.89[EUR][1000 genomes]
rs72690405	0.89[EUR][1000 genomes]
rs72690406	0.93[EUR][1000 genomes]
rs72690409	0.93[EUR][1000 genomes]
rs72690411	0.93[EUR][1000 genomes]
rs72690412	0.98[EUR][1000 genomes]
rs72690413	0.98[EUR][1000 genomes]
rs72690414	0.98[EUR][1000 genomes]
rs72690415	0.98[EUR][1000 genomes]
rs72690418	0.98[EUR][1000 genomes]
rs72690421	1.00[EUR][1000 genomes]
rs72690423	1.00[EUR][1000 genomes]
rs72690424	1.00[EUR][1000 genomes]
rs72690427	1.00[EUR][1000 genomes]
rs72690429	1.00[EUR][1000 genomes]
rs72690432	0.95[EUR][1000 genomes]
rs72690438	0.93[EUR][1000 genomes]
rs72690440	0.93[EUR][1000 genomes]
rs72690441	0.93[EUR][1000 genomes]
rs72690444	0.93[EUR][1000 genomes]
rs72690446	0.93[EUR][1000 genomes]
rs72690449	0.93[EUR][1000 genomes]
rs72690456	0.93[EUR][1000 genomes]
rs72690458	0.93[EUR][1000 genomes]
rs72690467	0.89[EUR][1000 genomes]
rs72690468	0.89[EUR][1000 genomes]
rs72690469	0.89[EUR][1000 genomes]
rs72690475	0.89[EUR][1000 genomes]
rs72690477	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv971681	chr8:87516010-87519129	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87474000-87517000	Weak transcription	Small Intestine	intestine
2	chr8:87482400-87517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:87482800-87519600	Weak transcription	HUVEC	blood vessel
4	chr8:87488400-87519800	Weak transcription	Psoas Muscle	Psoas
5	chr8:87494200-87519800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:87497000-87516600	Weak transcription	Right Ventricle	heart
7	chr8:87498200-87517200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:87498400-87517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:87498400-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:87506600-87520000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:87508000-87516600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:87508000-87516600	Weak transcription	NH-A	brain
13	chr8:87508000-87520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:87508200-87517000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:87508200-87520000	Weak transcription	Stomach Mucosa	stomach
16	chr8:87508600-87516400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:87508600-87517400	Weak transcription	Fetal Heart	heart
18	chr8:87508800-87516600	Weak transcription	NHDF-Ad	bronchial
19	chr8:87509200-87519200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:87509400-87519400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:87509600-87516600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:87511000-87516400	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:87511000-87520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:87511400-87516600	Weak transcription	Left Ventricle	heart
25	chr8:87511800-87519200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr8:87512000-87519000	Strong transcription	Primary B cells from cord blood	blood
27	chr8:87512600-87516400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:87513000-87519000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:87513200-87517800	Strong transcription	Fetal Stomach	stomach
30	chr8:87513200-87519000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:87513200-87519000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:87513400-87520000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:87513800-87516400	Weak transcription	Brain Angular Gyrus	brain
34	chr8:87513800-87519200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:87514200-87517400	Strong transcription	Fetal Brain Female	brain
36	chr8:87514400-87519000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:87514400-87519000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:87514400-87519200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:87514600-87518800	Strong transcription	Fetal Lung	lung
40	chr8:87514600-87519000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:87514600-87519000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:87514600-87519200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:87514600-87519400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:87514600-87520200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:87514800-87519200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:87515200-87518600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:87515200-87519200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:87515400-87519000	Strong transcription	Primary T cells from cord blood	blood
49	chr8:87515400-87519000	Strong transcription	HSMM	muscle
50	chr8:87515400-87519000	Strong transcription	NHEK	skin

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