Variant report

Variant	rs4871829
Chromosome Location	chr8:121081289-121081290
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	chr8:121075759..121078514-chr8:121080982..121082619,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10087490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095170	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10102329	0.83[AMR][1000 genomes]
rs10107163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109973	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112515	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10113201	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893505	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28390204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871034	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871035	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988923	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998748	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7011381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015521	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017084	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675721	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675736	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72675747	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819380	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7824041	1.00[CEU][hapmap]
rs7841443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297610	1.00[CEU][hapmap]
rs9297611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656933	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:121070800-121082200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:121073200-121081400	Weak transcription	Psoas Muscle	Psoas
4	chr8:121073400-121081800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:121074200-121081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:121075600-121083000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:121075600-121083000	Enhancers	Stomach Mucosa	stomach
8	chr8:121075600-121095800	Weak transcription	Gastric	stomach
9	chr8:121076000-121085400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:121076600-121083200	Enhancers	Fetal Intestine Large	intestine
11	chr8:121077200-121081800	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:121077200-121083200	Enhancers	Fetal Intestine Small	intestine
13	chr8:121078200-121082600	Enhancers	Primary hematopoietic stem cells	blood
14	chr8:121078400-121082000	Weak transcription	Fetal Lung	lung
15	chr8:121078600-121082400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:121078800-121082600	Enhancers	Pancreas	Pancrea
17	chr8:121078800-121083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:121079000-121083400	Enhancers	Fetal Kidney	kidney
19	chr8:121079200-121081400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:121079200-121081800	Weak transcription	Placenta	Placenta
21	chr8:121079200-121082000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:121079200-121083000	Enhancers	NHEK	skin
23	chr8:121079400-121082200	Weak transcription	Ovary	ovary
24	chr8:121079600-121082000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:121079800-121082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:121080000-121082600	Enhancers	HMEC	breast
27	chr8:121080200-121082800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:121080200-121083200	Enhancers	Colon Smooth Muscle	Colon
29	chr8:121080400-121081400	Enhancers	HepG2	liver
30	chr8:121080400-121082000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121080400-121082600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:121080600-121082000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr8:121080600-121083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:121080800-121081400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:121080800-121081400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr8:121080800-121082000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:121080800-121082800	Enhancers	Liver	Liver
38	chr8:121081000-121081400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:121081000-121082000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:121081000-121082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:121081000-121084400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:121081200-121081600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:121081200-121081600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:121081200-121081800	Enhancers	Small Intestine	intestine
45	chr8:121081200-121082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:121081200-121085400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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