Variant report

Variant	rs7598371
Chromosome Location	chr2:46605954-46605955
allele	C/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	chr2:46602784-46612387	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:46605796-46606139	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:46602319-46619222	K562	blood:	n/a	n/a
4	POLR2A	chr2:46605925-46606095	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46603996..46606456-chr2:46616459..46618582,2	K562	blood:
2	chr2:46600582..46603606-chr2:46603926..46607048,4	K562	blood:

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

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10178633	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs11675232	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11675328	0.89[AMR][1000 genomes]
rs11675441	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11678465	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11678817	0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11681242	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11686705	0.90[AMR][1000 genomes]
rs11690951	0.89[CEU][hapmap];0.81[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11691694	0.89[AMR][1000 genomes]
rs11692911	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11693596	0.88[AMR][1000 genomes]
rs11693754	0.90[AMR][1000 genomes]
rs11694193	1.00[CEU][hapmap];0.85[CHB][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12467821	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13006131	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13019268	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1374749	0.81[CEU][hapmap]
rs1530622	0.81[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1530631	0.85[CEU][hapmap]
rs1530633	0.81[CEU][hapmap]
rs1562453	0.82[CEU][hapmap]
rs1868092	0.80[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1868093	0.81[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1868094	0.81[CEU][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35145595	0.92[ASN][1000 genomes]
rs3768730	0.92[CEU][hapmap]
rs4953356	0.85[CEU][hapmap]
rs4953358	0.85[CEU][hapmap]
rs4953359	0.89[CEU][hapmap]
rs55826825	0.89[AMR][1000 genomes]
rs56161503	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59034065	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62138871	0.88[AMR][1000 genomes]
rs6707241	0.84[CEU][hapmap]
rs6735812	0.85[CEU][hapmap]
rs6740096	0.85[CEU][hapmap]
rs6743991	0.84[CEU][hapmap]
rs6756667	0.84[CEU][hapmap]
rs7557402	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7567582	0.96[CEU][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7568285	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7583088	0.96[CEU][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7583392	0.96[CEU][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7591548	0.89[AMR][1000 genomes]
rs7594278	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7594912	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs7606559	0.96[CEU][hapmap];0.88[YRI][hapmap];0.97[AMR][1000 genomes];0.93[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:79 , 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	chr2:46589800-46616600	Weak transcription	Thymus	Thymus
5	chr2:46591200-46606400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:46592200-46619800	Weak transcription	K562	blood
7	chr2:46592600-46606600	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr2:46592600-46608400	Strong transcription	Osteobl	bone
9	chr2:46592600-46611200	Weak transcription	Primary T cells from cord blood	blood
10	chr2:46592600-46612600	Strong transcription	NHEK	skin
11	chr2:46592600-46616200	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr2:46593600-46615400	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:46594000-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:46594400-46615600	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:46594600-46612800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:46594800-46615400	Strong transcription	Liver	Liver
17	chr2:46594800-46615600	Strong transcription	HUVEC	blood vessel
18	chr2:46595000-46616000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:46596000-46612800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:46599200-46606000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:46600600-46612600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:46600800-46608400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:46600800-46609200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:46600800-46614200	Strong transcription	HepG2	liver
25	chr2:46601000-46607400	Strong transcription	HMEC	breast
26	chr2:46601200-46606800	Weak transcription	Psoas Muscle	Psoas
27	chr2:46601800-46616400	Genic enhancers	Placenta	Placenta
28	chr2:46602000-46609800	Strong transcription	Small Intestine	intestine
29	chr2:46602000-46616000	Strong transcription	Pancreas	Pancrea
30	chr2:46602200-46606400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:46602400-46606000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:46602400-46608800	Strong transcription	Spleen	Spleen
33	chr2:46602400-46613400	Strong transcription	Fetal Intestine Small	intestine
34	chr2:46602600-46606000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:46602800-46606000	Genic enhancers	Left Ventricle	heart
36	chr2:46603200-46614200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:46603400-46608400	Genic enhancers	Fetal Stomach	stomach
38	chr2:46603800-46607000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr2:46603800-46607200	Enhancers	Brain Angular Gyrus	brain
40	chr2:46604000-46606000	Genic enhancers	Right Ventricle	heart
41	chr2:46604000-46606800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:46604000-46607000	Enhancers	Brain Anterior Caudate	brain
43	chr2:46604000-46607400	Genic enhancers	Adipose Nuclei	Adipose
44	chr2:46604000-46607600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:46604000-46608600	Strong transcription	Fetal Intestine Large	intestine
46	chr2:46604000-46609000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:46604200-46607800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:46604400-46606800	Strong transcription	Lung	lung
49	chr2:46604400-46608800	Genic enhancers	NHLF	lung
50	chr2:46604600-46606200	Weak transcription	Brain Cingulate Gyrus	brain

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