Variant report

Variant	rs7957397
Chromosome Location	chr12:104239496-104239497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
2	chr12:104239377..104242138-chr12:104243649..104245616,3	K562	blood:
3	chr12:104213748..104215908-chr12:104239137..104241310,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861124	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11111810	0.96[ASN][1000 genomes]
rs12368121	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12368164	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7302074	0.91[ASN][1000 genomes]
rs7315838	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7966100	0.96[ASN][1000 genomes]
rs7971050	0.96[ASN][1000 genomes]
rs7971440	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104240800	Weak transcription	NHDF-Ad	bronchial
2	chr12:104236000-104242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104236000-104242000	Weak transcription	Pancreas	Pancrea
4	chr12:104236000-104242800	Weak transcription	Aorta	Aorta
5	chr12:104236000-104243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:104236000-104245000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
8	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:104236000-104253600	Weak transcription	Gastric	stomach
10	chr12:104236200-104240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:104236200-104240000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:104236200-104241200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:104236200-104242000	Weak transcription	Fetal Lung	lung
14	chr12:104236200-104242400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:104236400-104245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:104236400-104246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:104236600-104241400	Weak transcription	Liver	Liver
19	chr12:104236600-104248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104237000-104242000	Weak transcription	A549	lung
21	chr12:104238200-104246400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:104238400-104240000	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:104238400-104241200	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links