Variant report

Variant	rs11182302
Chromosome Location	chr12:44250291-44250292
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44249126..44251692-chr12:44253550..44257434,4	MCF-7	breast:
2	chr12:44229192..44231344-chr12:44248420..44250942,2	K562	blood:
3	chr12:44197746..44199436-chr12:44249235..44251144,2	K562	blood:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10880574	1.00[JPT][hapmap]
rs11182309	1.00[ASN][1000 genomes]
rs11182360	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182362	0.81[ASN][1000 genomes]
rs11182365	0.81[ASN][1000 genomes]
rs11182369	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182373	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182378	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182379	0.81[ASN][1000 genomes]
rs11182381	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182383	0.81[ASN][1000 genomes]
rs11182384	1.00[CHB][hapmap]
rs11182385	1.00[CHB][hapmap]
rs11182386	0.81[ASN][1000 genomes]
rs11182387	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182388	0.81[ASN][1000 genomes]
rs11182390	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182391	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182394	0.81[ASN][1000 genomes]
rs11182396	1.00[CHB][hapmap]
rs11182399	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182403	0.81[ASN][1000 genomes]
rs11182405	1.00[CHB][hapmap]
rs11182406	0.81[ASN][1000 genomes]
rs11182409	0.81[ASN][1000 genomes]
rs12099769	1.00[CHB][hapmap]
rs12228693	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12231403	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12231978	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4469953	1.00[JPT][hapmap]
rs6582495	1.00[CHB][hapmap]
rs7959226	1.00[CHB][hapmap]
rs7980005	1.00[CHB][hapmap]
rs8181703	0.81[ASN][1000 genomes]
rs9919742	1.00[CHB][hapmap]

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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 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	chr12:44230400-44250800	Weak transcription	Gastric	stomach
2	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
3	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
8	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
10	chr12:44233600-44251200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
12	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
13	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
14	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
15	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:44241600-44251800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:44241600-44252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:44242800-44250800	Weak transcription	Esophagus	oesophagus
19	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
20	chr12:44243200-44252000	Weak transcription	HMEC	breast
21	chr12:44244400-44253200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
23	chr12:44244600-44253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:44245800-44255400	Weak transcription	HSMM	muscle
25	chr12:44247000-44254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:44248000-44250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:44248000-44251800	Weak transcription	HSMMtube	muscle
28	chr12:44248200-44251800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:44248200-44252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:44250200-44252800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links