Variant report

Variant	rs10178633
Chromosome Location	chr2:46597827-46597828
allele	A/G
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	POLR2A	chr2:46596298-46598861	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:46595906-46599185	K562	blood:	n/a	n/a
3	POLR2A	chr2:46596612-46598133	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46596951..46599466-chr2:46599822..46602792,2	K562	blood:
2	chr2:46590893..46592901-chr2:46596143..46597852,2	K562	blood:
3	chr2:46479816..46482357-chr2:46596198..46598325,2	K562	blood:

Variant related genes	Relation type
EPAS1	TF binding region
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11675232	0.89[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11675441	0.85[CEU][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678465	0.85[CEU][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes]
rs11678817	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs11681242	0.83[AMR][1000 genomes]
rs11690951	0.83[AMR][1000 genomes]
rs11692911	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11694193	0.85[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes]
rs12467821	0.84[JPT][hapmap]
rs13006131	0.81[CEU][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes]
rs1374749	0.92[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1868092	0.83[MEX][hapmap]
rs3768730	0.81[CEU][hapmap]
rs59034065	0.85[AMR][1000 genomes]
rs7557402	0.87[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7565341	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7567582	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7583088	0.81[CEU][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7583392	0.81[CEU][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes]
rs7594278	0.85[CEU][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.85[AMR][1000 genomes]
rs7594912	0.84[JPT][hapmap]
rs7598371	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs7606559	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46573200-46613000	Strong transcription	Hela-S3	cervix
2	chr2:46574600-46607200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:46574800-46613000	Weak transcription	HSMM	muscle
4	chr2:46586600-46604000	Weak transcription	HSMMtube	muscle
5	chr2:46588600-46604800	Weak transcription	Stomach Mucosa	stomach
6	chr2:46588800-46598800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:46589800-46616600	Weak transcription	Thymus	Thymus
8	chr2:46591200-46606400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:46591800-46599800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:46592000-46605000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:46592200-46619800	Weak transcription	K562	blood
12	chr2:46592600-46598600	Strong transcription	HepG2	liver
13	chr2:46592600-46606600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr2:46592600-46608400	Strong transcription	Osteobl	bone
15	chr2:46592600-46611200	Weak transcription	Primary T cells from cord blood	blood
16	chr2:46592600-46612600	Strong transcription	NHEK	skin
17	chr2:46592600-46616200	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr2:46593000-46602600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:46593000-46604000	Strong transcription	Adipose Nuclei	Adipose
20	chr2:46593200-46599600	Genic enhancers	Placenta	Placenta
21	chr2:46593600-46601600	Strong transcription	A549	lung
22	chr2:46593600-46615400	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:46594000-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:46594200-46604400	Strong transcription	NHLF	lung
25	chr2:46594400-46599000	Strong transcription	Fetal Intestine Small	intestine
26	chr2:46594400-46615600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr2:46594600-46601600	Strong transcription	Aorta	Aorta
28	chr2:46594600-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:46594800-46599600	Strong transcription	Colonic Mucosa	Colon
30	chr2:46594800-46604000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:46594800-46604000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:46594800-46604000	Strong transcription	Right Ventricle	heart
33	chr2:46594800-46615400	Strong transcription	Liver	Liver
34	chr2:46594800-46615600	Strong transcription	HUVEC	blood vessel
35	chr2:46595000-46598600	Weak transcription	Psoas Muscle	Psoas
36	chr2:46595000-46604000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:46595000-46616000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:46595200-46602000	Weak transcription	Small Intestine	intestine
39	chr2:46595400-46601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:46595400-46602800	Strong transcription	Left Ventricle	heart
41	chr2:46595400-46603800	Weak transcription	Brain Angular Gyrus	brain
42	chr2:46595400-46603800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:46595600-46598800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:46595800-46601000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:46595800-46604000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:46595800-46604000	Weak transcription	Brain Substantia Nigra	brain
47	chr2:46596000-46605800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:46596000-46612800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:46596200-46598400	Strong transcription	Fetal Intestine Large	intestine
50	chr2:46596200-46599600	Strong transcription	Pancreas	Pancrea

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