Variant report

Variant	rs35145595
Chromosome Location	chr2:46608333-46608334
allele	A/C
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	chr2:46602784-46612387	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:46602319-46619222	K562	blood:	n/a	n/a
3	POLR2A	chr2:46608209-46608359	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:46608015-46608733	K562	blood:	n/a	n/a
5	POLR2A	chr2:46607914-46608962	K562	blood:	n/a	n/a
6	FOSL2	chr2:46606590-46610589	HepG2	liver:	n/a	chr2:46608863-46608870 chr2:46608862-46608871
7	POLR2A	chr2:46606423-46612176	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:46608145-46608482	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46606421..46608528-chr2:46662722..46665704,2	K562	blood:

Variant related genes	Relation type
EPAS1	TF binding region
ENSG00000187600	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11689649	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11689694	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11690950	0.82[EUR][1000 genomes]
rs11690951	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11694193	0.81[EUR][1000 genomes]
rs13006131	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019268	0.89[ASN][1000 genomes]
rs13019414	0.83[EUR][1000 genomes]
rs3088359	0.80[EUR][1000 genomes]
rs56768253	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7590087	0.80[EUR][1000 genomes]
rs7594278	0.82[EUR][1000 genomes]
rs7598371	0.92[ASN][1000 genomes]
rs7606559	0.80[EUR][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	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
5	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr2:46574800-46613000	Weak transcription	HSMM	muscle
3	chr2:46589800-46616600	Weak transcription	Thymus	Thymus
4	chr2:46592200-46619800	Weak transcription	K562	blood
5	chr2:46592600-46608400	Strong transcription	Osteobl	bone
6	chr2:46592600-46611200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:46592600-46612600	Strong transcription	NHEK	skin
8	chr2:46592600-46616200	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr2:46593600-46615400	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:46594000-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:46594400-46615600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:46594600-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:46594800-46615400	Strong transcription	Liver	Liver
14	chr2:46594800-46615600	Strong transcription	HUVEC	blood vessel
15	chr2:46595000-46616000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:46596000-46612800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:46600600-46612600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:46600800-46608400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:46600800-46609200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:46600800-46614200	Strong transcription	HepG2	liver
21	chr2:46601800-46616400	Genic enhancers	Placenta	Placenta
22	chr2:46602000-46609800	Strong transcription	Small Intestine	intestine
23	chr2:46602000-46616000	Strong transcription	Pancreas	Pancrea
24	chr2:46602400-46608800	Strong transcription	Spleen	Spleen
25	chr2:46602400-46613400	Strong transcription	Fetal Intestine Small	intestine
26	chr2:46603200-46614200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:46603400-46608400	Genic enhancers	Fetal Stomach	stomach
28	chr2:46604000-46608600	Strong transcription	Fetal Intestine Large	intestine
29	chr2:46604000-46609000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:46604400-46608800	Genic enhancers	NHLF	lung
31	chr2:46604600-46612000	Strong transcription	Aorta	Aorta
32	chr2:46604800-46608400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:46605000-46613000	Strong transcription	A549	lung
34	chr2:46605200-46608600	Genic enhancers	Esophagus	oesophagus
35	chr2:46605200-46614200	Weak transcription	Brain Substantia Nigra	brain
36	chr2:46605400-46609000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:46605600-46608400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:46605600-46614800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:46605800-46608400	Enhancers	Fetal Lung	lung
40	chr2:46606000-46612200	Strong transcription	Colonic Mucosa	Colon
41	chr2:46606000-46615000	Strong transcription	Right Ventricle	heart
42	chr2:46606000-46615400	Strong transcription	Left Ventricle	heart
43	chr2:46606200-46613000	Weak transcription	Right Atrium	heart
44	chr2:46606200-46613400	Strong transcription	Gastric	stomach
45	chr2:46606400-46611200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:46606600-46613000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:46606600-46614600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:46606800-46609800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:46606800-46613000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:46607000-46609800	Strong transcription	Fetal Muscle Leg	muscle

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