Variant report

Variant	rs11782035
Chromosome Location	chr8:121597087-121597088
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10098051	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10216544	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10955977	0.84[ASN][1000 genomes]
rs11774895	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11782950	0.82[ASN][1000 genomes]
rs11786460	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11786755	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11992085	0.84[ASN][1000 genomes]
rs11993763	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13249701	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13251609	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13253450	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13254959	0.85[ASN][1000 genomes]
rs13261532	0.80[ASN][1000 genomes]
rs13263202	0.82[ASN][1000 genomes]
rs13265960	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271651	0.85[ASN][1000 genomes]
rs13273020	0.81[ASN][1000 genomes]
rs13277867	0.82[ASN][1000 genomes]
rs13278351	0.84[ASN][1000 genomes]
rs35721503	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4314683	0.85[ASN][1000 genomes]
rs4387016	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4455882	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4515597	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4562365	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582605	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4644306	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55885222	0.85[ASN][1000 genomes]
rs6469937	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6984991	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988919	0.82[ASN][1000 genomes]
rs6999061	0.86[EUR][1000 genomes]
rs7820041	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7827513	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7846519	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121557800-121597400	Weak transcription	Osteobl	bone
2	chr8:121583200-121597400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:121583200-121598200	Weak transcription	Spleen	Spleen
4	chr8:121585000-121601600	Weak transcription	Fetal Lung	lung
5	chr8:121587200-121597600	Weak transcription	Fetal Intestine Large	intestine
6	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:121587400-121597200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:121587400-121597200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:121587400-121597600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121587400-121600400	Weak transcription	Fetal Kidney	kidney
11	chr8:121587600-121600000	Weak transcription	Aorta	Aorta
12	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
13	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
18	chr8:121589400-121597600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:121589600-121598000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr8:121589600-121602200	Weak transcription	Primary T cells from cord blood	blood
21	chr8:121592600-121600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:121593000-121598000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:121593200-121597200	Weak transcription	Liver	Liver
24	chr8:121593200-121599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:121594200-121605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:121596400-121597800	Enhancers	Pancreas	Pancrea
27	chr8:121596800-121597400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:121596800-121597600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr8:121596800-121597800	Enhancers	Psoas Muscle	Psoas
30	chr8:121596800-121598400	Enhancers	HUVEC	blood vessel
31	chr8:121596800-121598800	Enhancers	Fetal Muscle Leg	muscle
32	chr8:121596800-121599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:121596800-121599000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr8:121596800-121599000	Enhancers	Hela-S3	cervix
35	chr8:121596800-121599200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:121596800-121599200	Enhancers	NHDF-Ad	bronchial
37	chr8:121596800-121602400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:121596800-121604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:121596800-121606200	Enhancers	NHLF	lung
40	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:121597000-121597200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr8:121597000-121597400	Genic enhancers	HSMM	muscle
43	chr8:121597000-121597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:121597000-121597600	Enhancers	Duodenum Mucosa	Duodenum
45	chr8:121597000-121597600	Enhancers	Gastric	stomach
46	chr8:121597000-121597600	Enhancers	Left Ventricle	heart
47	chr8:121597000-121597600	Enhancers	Right Ventricle	heart
48	chr8:121597000-121597600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:121597000-121597600	Strong transcription	HepG2	liver
50	chr8:121597000-121597800	Enhancers	Lung	lung

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