Variant report

Variant	rs34096290
Chromosome Location	chr2:62683175-62683176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:62682086..62684850-chr2:62901715..62904268,2	K562	blood:
2	chr2:62682679..62685054-chr2:63000979..63003135,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11899341	0.99[ASN][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	nsv874231	chr2:62159728-62688792	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	47 gene(s)	inside rSNPs	diseases
3	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62657400-62683800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:62677800-62684000	Weak transcription	Colonic Mucosa	Colon
3	chr2:62678000-62683600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:62678000-62683800	Weak transcription	Spleen	Spleen
5	chr2:62678200-62683800	Weak transcription	Pancreas	Pancrea
6	chr2:62678600-62684000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:62678800-62683800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:62679200-62683400	Weak transcription	NHLF	lung
9	chr2:62679200-62684200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:62679400-62683400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:62679800-62683600	Weak transcription	Liver	Liver
12	chr2:62680200-62683800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:62680600-62683600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:62680600-62683800	Weak transcription	Right Atrium	heart
15	chr2:62680800-62683400	Weak transcription	A549	lung
16	chr2:62680800-62684000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:62681400-62683400	Weak transcription	GM12878-XiMat	blood
18	chr2:62681400-62683600	Weak transcription	Esophagus	oesophagus
19	chr2:62681400-62683800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:62681600-62683200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:62681600-62683400	Weak transcription	NHDF-Ad	bronchial
22	chr2:62681600-62683600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:62681600-62683600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:62681600-62683600	Weak transcription	HMEC	breast
25	chr2:62681600-62683600	Weak transcription	NHEK	skin
26	chr2:62681600-62684000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:62681600-62684000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:62681800-62683400	Weak transcription	Fetal Stomach	stomach
29	chr2:62681800-62683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:62681800-62683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:62683000-62683800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links