Variant report

Variant	rs974994
Chromosome Location	chr8:20088733-20088734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:20088600..20090081-chr8:20233342..20234519,28	MCF-7	breast:
2	chr8:20084830..20086943-chr8:20087821..20089403,2	K562	blood:
3	chr8:20088116..20090278-chr8:20233803..20235473,2	K562	blood:
4	chr8:20088088..20089926-chr8:20233248..20234294,12	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10095373	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1106634	0.84[JPT][hapmap]
rs11204102	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs11778205	0.84[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12335186	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13253777	0.91[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1390943	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2410638	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4922139	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv6107	chr8:20056154-20100794	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20056400-20089600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:20067800-20089400	Weak transcription	Stomach Mucosa	stomach
3	chr8:20076400-20089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:20076400-20090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:20078400-20089400	Weak transcription	Colonic Mucosa	Colon
6	chr8:20078800-20089600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr8:20079400-20089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:20079400-20093800	Weak transcription	Right Ventricle	heart
9	chr8:20079600-20089000	Weak transcription	Fetal Brain Male	brain
10	chr8:20079600-20089200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:20079800-20089200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:20081000-20089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:20081400-20089400	Weak transcription	NHEK	skin
14	chr8:20081600-20089200	Weak transcription	Fetal Heart	heart
15	chr8:20081800-20089000	Weak transcription	HUVEC	blood vessel
16	chr8:20081800-20089200	Weak transcription	Fetal Kidney	kidney
17	chr8:20081800-20089400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr8:20081800-20089400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr8:20081800-20089400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:20081800-20089400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:20081800-20089600	Weak transcription	Right Atrium	heart
22	chr8:20082200-20089400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:20083400-20089600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:20083600-20089200	Weak transcription	Fetal Thymus	thymus
25	chr8:20083600-20089400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:20083800-20089200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:20083800-20089200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:20083800-20089400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:20083800-20089400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr8:20083800-20089400	Weak transcription	Gastric	stomach
31	chr8:20083800-20089400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:20083800-20089400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:20083800-20089400	Weak transcription	HMEC	breast
34	chr8:20083800-20091600	Weak transcription	Thymus	Thymus
35	chr8:20083800-20095600	Weak transcription	Pancreas	Pancrea
36	chr8:20084000-20089200	Weak transcription	Brain Angular Gyrus	brain
37	chr8:20084000-20089200	Weak transcription	Brain Substantia Nigra	brain
38	chr8:20084000-20089400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:20084000-20089400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:20084200-20089200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:20084200-20089200	Weak transcription	Osteobl	bone
42	chr8:20084200-20089400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:20084200-20089600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:20084400-20089200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:20084400-20089400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:20084400-20089400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr8:20084400-20089400	Weak transcription	Fetal Brain Female	brain
48	chr8:20084400-20089400	Weak transcription	Small Intestine	intestine
49	chr8:20084600-20088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:20084600-20089200	Weak transcription	Brain Hippocampus Middle	brain

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