Variant report

Variant	rs7580942
Chromosome Location	chr2:97468276-97468277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97467639..97469941-chr2:97475793..97477509,2	MCF-7	breast:
2	chr18:75695687..75698621-chr2:97466329..97469309,2	K562	blood:
3	chr2:97467643..97469285-chr2:97522223..97524025,2	MCF-7	breast:
4	chr2:97426560..97430311-chr2:97465753..97469757,6	MCF-7	breast:
5	chr2:97466981..97469049-chr2:97479457..97483180,4	MCF-7	breast:
6	chr2:97468183..97470618-chr2:97480529..97483557,3	MCF-7	breast:
7	chr18:75695687..75697316-chr2:97467809..97469327,2	K562	blood:
8	chr2:97465934..97468899-chr2:97470866..97472428,2	MCF-7	breast:
9	chr2:97301902..97304307-chr2:97465520..97468347,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168763	Chromatin interaction
ENSG00000264334	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10203346	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10439526	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11889085	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12172	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12846	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1317911	0.84[EUR][1000 genomes]
rs1320146	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1320149	0.84[EUR][1000 genomes]
rs13419073	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17119564	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17119591	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17119598	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2139406	1.00[GIH][hapmap]
rs2276654	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280356	1.00[GIH][hapmap]
rs2314399	0.83[ASN][1000 genomes]
rs2872633	1.00[GIH][hapmap]
rs3731940	1.00[GIH][hapmap]
rs3731941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4077343	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55674661	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56797569	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56913233	0.83[ASN][1000 genomes]
rs57582887	0.83[ASN][1000 genomes]
rs58147284	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59244622	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152765	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152766	0.83[ASN][1000 genomes]
rs62152767	0.83[ASN][1000 genomes]
rs62152768	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152770	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62152771	0.88[ASN][1000 genomes]
rs62152772	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152773	0.88[ASN][1000 genomes]
rs62152774	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152775	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62152777	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62152780	0.82[ASN][1000 genomes]
rs62152783	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62152784	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62152785	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62152786	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152787	0.93[ASN][1000 genomes]
rs62152788	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62152790	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152793	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152794	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152795	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62152834	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152860	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62156208	0.83[ASN][1000 genomes]
rs62156209	0.83[ASN][1000 genomes]
rs62156210	0.83[ASN][1000 genomes]
rs62156211	0.83[ASN][1000 genomes]
rs62156212	0.83[ASN][1000 genomes]
rs62156213	0.83[ASN][1000 genomes]
rs62156216	0.83[ASN][1000 genomes]
rs62156219	0.83[ASN][1000 genomes]
rs62156220	0.83[ASN][1000 genomes]
rs62156221	0.83[ASN][1000 genomes]
rs62156222	0.83[ASN][1000 genomes]
rs62156223	0.83[ASN][1000 genomes]
rs62156225	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62156226	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62156227	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62156228	0.83[ASN][1000 genomes]
rs62156230	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62156231	0.83[ASN][1000 genomes]
rs62156232	0.83[ASN][1000 genomes]
rs62156233	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62156234	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6576981	0.83[ASN][1000 genomes]
rs6576986	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576987	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6576989	1.00[MEX][hapmap];0.89[TSI][hapmap]
rs6751132	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6753987	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs6756482	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6758151	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs72809850	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72811623	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7568206	0.83[ASN][1000 genomes]
rs7594727	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7608621	1.00[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs878064	0.81[ASN][1000 genomes]
rs9948	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap]
rs9973492	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
12	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv3365153	chr2:97465325-97469223	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv3387574	chr2:97466025-97469223	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97440000-97480800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:97454600-97481000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:97454600-97481000	Weak transcription	NHEK	skin
4	chr2:97454800-97477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:97455200-97477600	Weak transcription	HSMMtube	muscle
6	chr2:97455400-97477200	Weak transcription	Psoas Muscle	Psoas
7	chr2:97455400-97480600	Weak transcription	Hela-S3	cervix
8	chr2:97460600-97471200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:97462000-97480800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:97462600-97469000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:97462800-97468800	Strong transcription	Esophagus	oesophagus
12	chr2:97462800-97468800	Strong transcription	Fetal Brain Female	brain
13	chr2:97463000-97476200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:97463200-97468800	Strong transcription	Brain Germinal Matrix	brain
15	chr2:97463800-97468400	Strong transcription	Dnd41	blood
16	chr2:97464600-97477600	Weak transcription	Osteobl	bone
17	chr2:97464600-97480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:97465200-97474200	Weak transcription	Aorta	Aorta
19	chr2:97465200-97477200	Weak transcription	NHDF-Ad	bronchial
20	chr2:97465200-97481000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:97465400-97481200	Weak transcription	Small Intestine	intestine
22	chr2:97466000-97481200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:97466200-97468600	Genic enhancers	GM12878-XiMat	blood
24	chr2:97466200-97472000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:97466400-97468600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:97466400-97468600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:97466400-97468800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:97466400-97469000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:97466400-97469000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:97466400-97469000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:97466600-97468400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr2:97466600-97468800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:97466600-97468800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:97466600-97468800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:97466600-97469000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:97466800-97468800	Strong transcription	Gastric	stomach
37	chr2:97466800-97469200	Strong transcription	Colonic Mucosa	Colon
38	chr2:97466800-97469800	Strong transcription	Fetal Intestine Large	intestine
39	chr2:97466800-97470600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:97466800-97474200	Weak transcription	Ovary	ovary
41	chr2:97466800-97474400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:97466800-97475000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:97466800-97476400	Weak transcription	Liver	Liver
44	chr2:97466800-97478000	Weak transcription	NHLF	lung
45	chr2:97466800-97478600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:97466800-97480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:97466800-97481000	Weak transcription	HMEC	breast
48	chr2:97467000-97468400	Strong transcription	Lung	lung
49	chr2:97467000-97468400	Genic enhancers	HSMM	muscle
50	chr2:97467000-97468600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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