Variant report

Variant	rs846915
Chromosome Location	chr1:209863121-209863122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57606822	0.86[ASN][1000 genomes]
rs60132042	0.86[ASN][1000 genomes]
rs73089407	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73089412	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73089418	0.86[ASN][1000 genomes]
rs846907	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs846909	0.86[ASN][1000 genomes]
rs846911	0.86[ASN][1000 genomes]
rs846914	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860185	0.86[ASN][1000 genomes]
rs861762	0.86[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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr1:209858800-209863400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:209859000-209863200	Enhancers	Right Atrium	heart
3	chr1:209859200-209863200	Enhancers	Fetal Muscle Leg	muscle
4	chr1:209859400-209866000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:209859600-209866000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:209860200-209863600	Enhancers	Left Ventricle	heart
7	chr1:209861000-209863200	Enhancers	HSMMtube	muscle
8	chr1:209861200-209863200	Enhancers	Ovary	ovary
9	chr1:209861200-209863400	Enhancers	Hela-S3	cervix
10	chr1:209861400-209863200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:209861400-209863200	Enhancers	Psoas Muscle	Psoas
12	chr1:209861400-209863400	Enhancers	HMEC	breast
13	chr1:209861400-209863600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:209861600-209863200	Enhancers	NHEK	skin
15	chr1:209861600-209863400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:209861600-209863400	Enhancers	Fetal Lung	lung
17	chr1:209861800-209866200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:209861800-209866200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:209861800-209866200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:209861800-209866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:209862000-209863200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:209862000-209863400	Enhancers	K562	blood
23	chr1:209862200-209863200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:209862200-209863200	Enhancers	Colon Smooth Muscle	Colon
25	chr1:209862200-209863200	Enhancers	Small Intestine	intestine
26	chr1:209862400-209863200	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:209862400-209863200	Enhancers	Lung	lung
28	chr1:209862400-209863200	Enhancers	Stomach Mucosa	stomach
29	chr1:209862400-209866000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:209862600-209863200	Enhancers	Adipose Nuclei	Adipose
31	chr1:209862600-209866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:209862600-209866000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:209862600-209866000	Weak transcription	HSMM	muscle
34	chr1:209862600-209866000	Weak transcription	Osteobl	bone
35	chr1:209862800-209863200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:209862800-209864600	Weak transcription	NHLF	lung
37	chr1:209862800-209864800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:209862800-209865600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:209862800-209867600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:209863000-209863200	Enhancers	Fetal Heart	heart
41	chr1:209863000-209863600	Enhancers	Placenta	Placenta
42	chr1:209863000-209863600	Enhancers	A549	lung
43	chr1:209863000-209864600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:209863000-209866000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:209863000-209866000	Weak transcription	Fetal Stomach	stomach
46	chr1:209863000-209866200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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