Variant report

Variant	rs2267698
Chromosome Location	chr7:139616793-139616794
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139616752..139618637-chr7:139673605..139675135,2	K562	blood:
2	chr7:139586458..139589316-chr7:139614589..139616805,2	K562	blood:
3	chr7:139469062..139470593-chr7:139616161..139618047,2	K562	blood:
4	chr7:139598082..139600623-chr7:139614374..139616919,2	K562	blood:
5	chr7:139584185..139586442-chr7:139614937..139617352,2	K562	blood:
6	chr7:139614974..139617171-chr7:139678956..139681260,2	K562	blood:
7	chr7:139588216..139591101-chr7:139616007..139619980,4	K562	blood:
8	chr7:139614806..139616915-chr7:139674310..139676178,2	K562	blood:
9	chr7:139614916..139618686-chr7:139627017..139630636,4	K562	blood:
10	chr7:139616579..139619472-chr7:139620171..139622168,3	K562	blood:

No data

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015572	1.00[CEU][hapmap];0.81[MEX][hapmap]
rs2267697	1.00[CEU][hapmap]
rs2284204	0.81[EUR][1000 genomes]
rs3801154	0.85[CEU][hapmap]
rs6464450	1.00[CEU][hapmap]
rs6464451	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6952982	1.00[CEU][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs6965165	1.00[CEU][hapmap]
rs7805971	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs8192813	1.00[CEU][hapmap];0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1019001	chr7:139558216-139841268	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1029099	chr7:139558216-139869148	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv889245	chr7:139599229-139657221	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139609800-139621800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:139612400-139618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:139612600-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:139612800-139617400	Enhancers	NHLF	lung
5	chr7:139612800-139617600	Enhancers	NHDF-Ad	bronchial
6	chr7:139613600-139617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:139613800-139617600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:139613800-139629800	Weak transcription	Spleen	Spleen
9	chr7:139614000-139616800	Enhancers	Fetal Stomach	stomach
10	chr7:139614000-139617200	Enhancers	HUVEC	blood vessel
11	chr7:139614000-139617200	Enhancers	NH-A	brain
12	chr7:139614000-139617400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:139614000-139617600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:139614000-139618600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:139614200-139618000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:139614200-139618200	Enhancers	HMEC	breast
17	chr7:139614200-139619600	Enhancers	HSMMtube	muscle
18	chr7:139614400-139617000	Enhancers	Stomach Mucosa	stomach
19	chr7:139614400-139618400	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:139615000-139617200	Genic enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:139615000-139617400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr7:139615200-139617000	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr7:139615200-139617600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:139615200-139617600	Enhancers	Esophagus	oesophagus
25	chr7:139615200-139618000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:139615200-139620000	Enhancers	Right Ventricle	heart
27	chr7:139615400-139616800	Enhancers	Colonic Mucosa	Colon
28	chr7:139615400-139616800	Enhancers	Pancreas	Pancrea
29	chr7:139615400-139616800	Enhancers	Small Intestine	intestine
30	chr7:139615400-139617200	Enhancers	Gastric	stomach
31	chr7:139615400-139617400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:139615400-139617400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:139615400-139617400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:139615400-139617600	Enhancers	Thymus	Thymus
35	chr7:139615400-139618400	Genic enhancers	Fetal Thymus	thymus
36	chr7:139615400-139645000	Weak transcription	Primary T cells from cord blood	blood
37	chr7:139615600-139616800	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr7:139615600-139616800	Enhancers	Left Ventricle	heart
39	chr7:139615600-139616800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr7:139615600-139617000	Enhancers	Adipose Nuclei	Adipose
41	chr7:139615800-139616800	Flanking Active TSS	Osteobl	bone
42	chr7:139615800-139617000	Flanking Active TSS	K562	blood
43	chr7:139615800-139617200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:139615800-139617600	Flanking Active TSS	GM12878-XiMat	blood
45	chr7:139615800-139618000	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:139616000-139616800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr7:139616000-139617000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr7:139616000-139617000	Flanking Active TSS	Hela-S3	cervix
49	chr7:139616000-139617400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:139616000-139618000	Enhancers	Dnd41	blood

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