Variant report

Variant	rs7957101
Chromosome Location	chr12:29377548-29377549
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	chr12:29376867..29378651-chr12:29381952..29383534,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10843345	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10843346	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10843347	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10843353	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4931168	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7972040	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
4	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29373200-29377800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:29374200-29378400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:29374400-29377600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:29374400-29378600	Weak transcription	Fetal Intestine Large	intestine
9	chr12:29374400-29380200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:29375200-29381000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:29376000-29377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29376400-29379000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:29376600-29378000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:29376600-29378000	Enhancers	NH-A	brain
16	chr12:29376600-29378800	Enhancers	Placenta	Placenta
17	chr12:29376800-29377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:29376800-29378600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29376800-29380200	Enhancers	Osteobl	bone
20	chr12:29377000-29378400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:29377000-29381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:29377000-29385200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:29377200-29378400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:29377200-29378400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:29377200-29379200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:29377400-29378000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:29377400-29378000	Enhancers	NHEK	skin
28	chr12:29377400-29378400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:29377400-29378600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:29377400-29378800	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links