Variant report

Variant	rs6988573
Chromosome Location	chr8:120927859-120927860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120885793..120887410-chr8:120926248..120928746,2	K562	blood:
2	chr8:120911895..120914365-chr8:120927252..120929113,2	K562	blood:

Variant related genes	Relation type
ENSG00000155792	Chromatin interaction
ENSG00000245330	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1034527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505375	1.00[ASN][1000 genomes]
rs10955944	1.00[ASN][1000 genomes]
rs11985028	0.93[ASN][1000 genomes]
rs11987628	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11988396	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11988603	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11992335	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11995595	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1519810	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17820965	0.93[ASN][1000 genomes]
rs35677635	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4053280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4128183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55666486	0.93[ASN][1000 genomes]
rs56331180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56658648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59151115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59559961	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59865322	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469877	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6983678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6993270	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999724	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7001126	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7004488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007554	0.87[ASN][1000 genomes]
rs7008908	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010899	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016372	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7016479	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017821	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73703619	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73705828	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7461618	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7465212	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7814126	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7814236	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7814482	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823167	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120920600-120928800	Weak transcription	Pancreas	Pancrea
2	chr8:120920800-120932800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:120921800-120931800	Weak transcription	HSMMtube	muscle
4	chr8:120922000-120931200	Enhancers	Psoas Muscle	Psoas
5	chr8:120923000-120935400	Enhancers	Stomach Mucosa	stomach
6	chr8:120923600-120932800	Weak transcription	Lung	lung
7	chr8:120924000-120931800	Weak transcription	Right Atrium	heart
8	chr8:120924400-120928000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:120924600-120928200	Enhancers	Fetal Muscle Leg	muscle
10	chr8:120925000-120931800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:120925000-120932400	Weak transcription	Right Ventricle	heart
12	chr8:120925000-120932600	Weak transcription	Esophagus	oesophagus
13	chr8:120925200-120931800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:120925200-120932600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:120925400-120929200	Weak transcription	Ovary	ovary
16	chr8:120925800-120931200	Weak transcription	Brain Anterior Caudate	brain
17	chr8:120926000-120931200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:120926200-120928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:120926200-120928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:120926200-120928800	Weak transcription	Brain Substantia Nigra	brain
21	chr8:120926200-120929400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:120926200-120930200	Weak transcription	Fetal Thymus	thymus
23	chr8:120926200-120930400	Weak transcription	Brain Angular Gyrus	brain
24	chr8:120926200-120931000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:120926200-120931800	Weak transcription	Placenta	Placenta
26	chr8:120926200-120932600	Weak transcription	Gastric	stomach
27	chr8:120926200-120944400	Weak transcription	Primary T cells from cord blood	blood
28	chr8:120926400-120929200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:120927000-120928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:120927000-120933000	Enhancers	HepG2	liver
31	chr8:120927000-120934000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:120927200-120928800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:120927200-120929600	Enhancers	Liver	Liver
34	chr8:120927200-120931800	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr8:120927200-120933200	Enhancers	Fetal Intestine Large	intestine
36	chr8:120927400-120928000	Enhancers	Adipose Nuclei	Adipose
37	chr8:120927400-120928200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:120927400-120929200	Weak transcription	Left Ventricle	heart
39	chr8:120927400-120933400	Enhancers	Fetal Intestine Small	intestine
40	chr8:120927600-120928000	Enhancers	Colon Smooth Muscle	Colon
41	chr8:120927600-120928000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr8:120927600-120928200	Enhancers	Fetal Lung	lung
43	chr8:120927600-120929400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:120927600-120929800	Enhancers	Colonic Mucosa	Colon
45	chr8:120927600-120933000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:120927600-120933000	Enhancers	Duodenum Mucosa	Duodenum
47	chr8:120927600-120933200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:120927800-120928000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:120927800-120928000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:120927800-120928000	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links