Variant report

Variant	rs7517461
Chromosome Location	chr1:209915575-209915576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:209915413-209915613	GM12878	blood:	n/a	n/a

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:

Variant related genes	Relation type
ENSG00000236136	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11119345	0.85[EUR][1000 genomes]
rs12058100	0.85[EUR][1000 genomes]
rs12561766	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17015076	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17015078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038053	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2076149	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2142860	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2235370	1.00[EUR][1000 genomes]
rs2236902	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2272866	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282740	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294406	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298930	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4545339	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4844488	0.85[ASN][1000 genomes]
rs4844491	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4844893	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4844894	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56822893	0.85[EUR][1000 genomes]
rs57283682	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58788672	0.83[EUR][1000 genomes]
rs7515014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528642	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532021	0.85[EUR][1000 genomes];0.90[ASN][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209907600-209920800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209914000-209917200	Enhancers	Liver	Liver
3	chr1:209914200-209916800	Enhancers	Fetal Intestine Large	intestine
4	chr1:209914200-209916800	Enhancers	Left Ventricle	heart
5	chr1:209914400-209915600	Enhancers	Fetal Heart	heart
6	chr1:209914400-209915600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:209914600-209915800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:209914600-209916600	Enhancers	Fetal Intestine Small	intestine
9	chr1:209914600-209917000	Enhancers	Ovary	ovary
10	chr1:209914800-209915800	Weak transcription	Right Ventricle	heart
11	chr1:209914800-209916200	Enhancers	Adipose Nuclei	Adipose
12	chr1:209914800-209917800	Enhancers	Pancreas	Pancrea
13	chr1:209914800-209917800	Enhancers	Right Atrium	heart
14	chr1:209915000-209915600	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:209915000-209915600	Enhancers	Brain Hippocampus Middle	brain
16	chr1:209915000-209915600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:209915000-209916000	Enhancers	Brain Substantia Nigra	brain
18	chr1:209915000-209916400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:209915200-209915600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:209915200-209915600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:209915200-209915600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:209915200-209915600	Enhancers	Osteobl	bone
23	chr1:209915200-209916000	Enhancers	GM12878-XiMat	blood
24	chr1:209915200-209916200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:209915200-209916400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:209915200-209916400	Enhancers	Rectal Smooth Muscle	rectum
27	chr1:209915200-209916800	Enhancers	Fetal Stomach	stomach
28	chr1:209915200-209916800	Enhancers	Gastric	stomach
29	chr1:209915200-209917200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:209915200-209920800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:209915200-209921000	Weak transcription	Spleen	Spleen
32	chr1:209915400-209915600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:209915400-209915600	Flanking Active TSS	Fetal Lung	lung
34	chr1:209915400-209915600	Flanking Active TSS	NHLF	lung
35	chr1:209915400-209915800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr1:209915400-209916000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:209915400-209916200	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr1:209915400-209916600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:209915400-209917200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:209915400-209917600	Weak transcription	Lung	lung
41	chr1:209915400-209918600	Enhancers	Brain Angular Gyrus	brain
42	chr1:209915400-209920400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:209915400-209920800	Weak transcription	Esophagus	oesophagus

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