Variant report

Variant	rs11182383
Chromosome Location	chr12:44412507-44412508
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11182302	0.81[ASN][1000 genomes]
rs11182309	0.81[ASN][1000 genomes]
rs11182360	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182362	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182365	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182369	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182373	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182378	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182379	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182381	1.00[ASN][1000 genomes]
rs11182386	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182387	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182390	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182391	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182394	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182399	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182406	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182409	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182413	1.00[AMR][1000 genomes]
rs12228693	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231978	0.81[ASN][1000 genomes]
rs17094057	1.00[AMR][1000 genomes]
rs17094127	1.00[AMR][1000 genomes]
rs17094138	1.00[AMR][1000 genomes]
rs17094142	1.00[AMR][1000 genomes]
rs2012087	1.00[AMR][1000 genomes]
rs3858723	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8181703	1.00[AMR][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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44402800-44414600	Weak transcription	HSMMtube	muscle
4	chr12:44403600-44415600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44404200-44414600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44404400-44416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44407200-44413000	Weak transcription	Pancreas	Pancrea
10	chr12:44409800-44414600	Weak transcription	GM12878-XiMat	blood
11	chr12:44410000-44415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:44410200-44413000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:44410600-44412800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:44411600-44413400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:44411600-44413600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:44412000-44413000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:44412000-44414800	Weak transcription	Fetal Brain Female	brain
18	chr12:44412200-44412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:44412200-44415000	Weak transcription	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links