Variant report

Variant	rs57891047
Chromosome Location	chr1:209915214-209915215
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	chr1:209913450..209916086-chr1:209919671..209921571,2	K562	blood:
2	chr1:209898728..209900231-chr1:209914075..209916050,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12563982	1.00[AMR][1000 genomes]
rs12565533	1.00[AMR][1000 genomes]
rs12566616	1.00[AMR][1000 genomes]
rs12569195	1.00[AMR][1000 genomes]
rs35163211	1.00[AMR][1000 genomes]
rs58788672	1.00[AMR][1000 genomes]
rs72468060	1.00[AMR][1000 genomes]
rs72468062	1.00[AMR][1000 genomes]
rs72649922	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209902400-209915400	Weak transcription	Brain Angular Gyrus	brain
2	chr1:209907600-209920800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:209914000-209917200	Enhancers	Liver	Liver
4	chr1:209914200-209916800	Enhancers	Fetal Intestine Large	intestine
5	chr1:209914200-209916800	Enhancers	Left Ventricle	heart
6	chr1:209914400-209915600	Enhancers	Fetal Heart	heart
7	chr1:209914400-209915600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:209914600-209915800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:209914600-209916600	Enhancers	Fetal Intestine Small	intestine
10	chr1:209914600-209917000	Enhancers	Ovary	ovary
11	chr1:209914800-209915400	Enhancers	Esophagus	oesophagus
12	chr1:209914800-209915800	Weak transcription	Right Ventricle	heart
13	chr1:209914800-209916200	Enhancers	Adipose Nuclei	Adipose
14	chr1:209914800-209917800	Enhancers	Pancreas	Pancrea
15	chr1:209914800-209917800	Enhancers	Right Atrium	heart
16	chr1:209915000-209915400	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:209915000-209915400	Enhancers	NHLF	lung
18	chr1:209915000-209915600	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:209915000-209915600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:209915000-209915600	Enhancers	Colon Smooth Muscle	Colon
21	chr1:209915000-209916000	Enhancers	Brain Substantia Nigra	brain
22	chr1:209915000-209916400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:209915200-209915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:209915200-209915400	Enhancers	Fetal Lung	lung
25	chr1:209915200-209915400	Enhancers	Lung	lung
26	chr1:209915200-209915400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:209915200-209915400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:209915200-209915600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:209915200-209915600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:209915200-209915600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:209915200-209915600	Enhancers	Osteobl	bone
32	chr1:209915200-209916000	Enhancers	GM12878-XiMat	blood
33	chr1:209915200-209916200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:209915200-209916400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:209915200-209916400	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:209915200-209916800	Enhancers	Fetal Stomach	stomach
37	chr1:209915200-209916800	Enhancers	Gastric	stomach
38	chr1:209915200-209917200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:209915200-209920800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:209915200-209921000	Weak transcription	Spleen	Spleen

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