Variant report

Variant	rs6757190
Chromosome Location	chr2:182811671-182811672
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182811667..182813909-chr2:182815688..182818291,2	K562	blood:
2	chr2:182806616..182809598-chr2:182811357..182814213,2	K562	blood:
3	chr2:182805441..182807917-chr2:182810312..182811970,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10169250	1.00[EUR][1000 genomes]
rs11885643	1.00[EUR][1000 genomes]
rs13384259	1.00[EUR][1000 genomes]
rs13395564	1.00[EUR][1000 genomes]
rs61736565	0.87[AFR][1000 genomes]
rs6433942	1.00[EUR][1000 genomes]
rs6741761	1.00[EUR][1000 genomes]
rs7582121	1.00[EUR][1000 genomes]
rs964700	1.00[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
3	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182782600-182812800	Weak transcription	Aorta	Aorta
2	chr2:182800000-182818000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:182808000-182818800	Weak transcription	Pancreas	Pancrea
4	chr2:182809200-182812800	Weak transcription	NHLF	lung
5	chr2:182809200-182813600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:182809200-182816800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:182809200-182817400	Weak transcription	Fetal Thymus	thymus
8	chr2:182809400-182811800	Weak transcription	Primary T cells from cord blood	blood
9	chr2:182810000-182812800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:182810000-182812800	Weak transcription	Liver	Liver
11	chr2:182810000-182818800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:182810200-182817800	Weak transcription	Placenta	Placenta
13	chr2:182811000-182813200	Enhancers	HepG2	liver
14	chr2:182811200-182812200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr2:182811200-182813600	Enhancers	NHEK	skin
16	chr2:182811200-182814400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:182811200-182814600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:182811200-182814600	Enhancers	HMEC	breast
19	chr2:182811200-182815200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:182811400-182812000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:182811400-182812600	Weak transcription	NHDF-Ad	bronchial
22	chr2:182811400-182812800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:182811400-182813000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:182811400-182813400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:182811600-182812000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:182811600-182812200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:182811600-182812600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:182811600-182812800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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