Variant report

Variant	rs10955944
Chromosome Location	chr8:120948797-120948798
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120941559..120943769-chr8:120948153..120949858,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1034527	1.00[ASN][1000 genomes]
rs10505375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985028	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11987628	0.86[ASN][1000 genomes]
rs11988396	0.86[ASN][1000 genomes]
rs11988603	0.86[ASN][1000 genomes]
rs11992314	0.91[AMR][1000 genomes]
rs11992335	0.86[ASN][1000 genomes]
rs11995559	0.85[YRI][hapmap]
rs11995595	0.86[ASN][1000 genomes]
rs1509347	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs1519809	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1519810	1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16892877	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16893285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17816889	1.00[YRI][hapmap]
rs17820965	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4053280	0.86[ASN][1000 genomes]
rs4128183	0.86[ASN][1000 genomes]
rs55666486	0.93[ASN][1000 genomes]
rs56331180	1.00[ASN][1000 genomes]
rs56658648	1.00[ASN][1000 genomes]
rs59151115	0.86[ASN][1000 genomes]
rs59559961	0.86[ASN][1000 genomes]
rs59865322	0.86[ASN][1000 genomes]
rs6469877	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6983678	1.00[ASN][1000 genomes]
rs6988573	1.00[ASN][1000 genomes]
rs6993186	0.86[ASN][1000 genomes]
rs6993270	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6999635	1.00[ASN][1000 genomes]
rs6999724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7000890	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7001126	0.86[ASN][1000 genomes]
rs7004488	1.00[ASN][1000 genomes]
rs7007554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7008908	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7010899	0.86[ASN][1000 genomes]
rs7011167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7014200	1.00[ASN][1000 genomes]
rs7016479	0.93[ASN][1000 genomes]
rs7017583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7017821	0.86[ASN][1000 genomes]
rs73703619	1.00[ASN][1000 genomes]
rs73705828	1.00[ASN][1000 genomes]
rs7461618	0.86[ASN][1000 genomes]
rs7465212	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7814126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7814236	0.86[ASN][1000 genomes]
rs7814482	0.86[ASN][1000 genomes]
rs7818752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7823167	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120933000-120948800	Weak transcription	Esophagus	oesophagus
2	chr8:120933200-120953600	Weak transcription	Right Ventricle	heart
3	chr8:120934000-120950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
6	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:120940200-120951000	Weak transcription	Osteobl	bone
8	chr8:120940600-120950200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:120940600-120950200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:120941200-120948800	Strong transcription	Fetal Muscle Leg	muscle
11	chr8:120941800-120953200	Weak transcription	Fetal Lung	lung
12	chr8:120942800-120948800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr8:120943800-120951400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:120944000-120959200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
16	chr8:120945600-120955400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:120946200-120949800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:120946400-120949000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:120946600-120950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:120946600-120950400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:120946600-120951000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:120947000-120959400	Weak transcription	Left Ventricle	heart
23	chr8:120947200-120948800	Strong transcription	Colon Smooth Muscle	Colon
24	chr8:120947200-120952800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:120947200-120953200	Weak transcription	Brain Substantia Nigra	brain
26	chr8:120947200-120954400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:120947200-120958000	Weak transcription	Gastric	stomach
28	chr8:120947400-120951400	Weak transcription	Pancreas	Pancrea
29	chr8:120947400-120953800	Weak transcription	Fetal Stomach	stomach
30	chr8:120947400-120955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:120947400-120955200	Weak transcription	Ovary	ovary
32	chr8:120947400-120963200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:120947400-120964400	Weak transcription	Adipose Nuclei	Adipose
34	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
35	chr8:120947600-120955200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:120947600-120959400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:120947600-120960000	Weak transcription	Liver	Liver
38	chr8:120947600-120960200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:120948000-120949000	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:120948000-120949000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:120948200-120949000	Enhancers	Fetal Intestine Large	intestine
42	chr8:120948200-120949000	Enhancers	Fetal Intestine Small	intestine
43	chr8:120948200-120949000	Enhancers	Stomach Mucosa	stomach
44	chr8:120948400-120949000	Enhancers	Brain Anterior Caudate	brain
45	chr8:120948400-120950000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:120948600-120949000	Enhancers	Brain Angular Gyrus	brain
47	chr8:120948600-120949000	Enhancers	Brain Hippocampus Middle	brain
48	chr8:120948600-120954000	Weak transcription	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links