Variant report

Variant	rs11183919
Chromosome Location	chr12:47773217-47773218
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47475106..47477797-chr12:47770687..47773338,2	MCF-7	breast:
2	chr12:47771657..47773684-chr12:47774609..47776242,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM113B-8	chr12:47770307-47773362	predAs_engstrom06_BG718375_1

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10748469	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10785674	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10785676	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10881095	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10881097	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10881099	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12302802	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1421355	0.81[ASN][1000 genomes]
rs4768152	0.88[ASN][1000 genomes]
rs4768802	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58058166	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582705	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6582706	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7297927	0.88[ASN][1000 genomes]
rs7956037	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966682	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967683	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7969338	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs886260	0.91[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];0.85[TSI][hapmap]
rs929225	0.81[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs9971912	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47770600-47773400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:47770800-47773400	Enhancers	Liver	Liver
3	chr12:47770800-47773600	Enhancers	HUVEC	blood vessel
4	chr12:47771200-47773600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:47771600-47786800	Weak transcription	Fetal Brain Male	brain
6	chr12:47771800-47774200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:47771800-47776200	Weak transcription	Lung	lung
8	chr12:47772000-47773400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:47772000-47773400	Enhancers	Osteobl	bone
10	chr12:47772200-47773400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:47772200-47773400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:47772200-47773400	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr12:47772200-47773400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:47772200-47773400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:47772200-47773400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:47772200-47773600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:47772200-47773600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:47772200-47777600	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:47772200-47777600	Weak transcription	HMEC	breast
20	chr12:47772200-47777800	Weak transcription	Right Atrium	heart
21	chr12:47772400-47773600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:47772400-47777600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:47772400-47777600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:47772400-47777600	Weak transcription	HSMMtube	muscle
25	chr12:47772400-47777800	Weak transcription	Ovary	ovary
26	chr12:47772600-47773400	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:47772600-47773400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:47772600-47773600	Enhancers	Dnd41	blood
29	chr12:47772800-47773400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr12:47772800-47774000	Flanking Active TSS	A549	lung
31	chr12:47772800-47775800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:47772800-47777600	Weak transcription	NH-A	brain
33	chr12:47773000-47777600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:47773000-47777800	Weak transcription	NHEK	skin
35	chr12:47773200-47773600	Enhancers	Left Ventricle	heart
36	chr12:47773200-47774000	Enhancers	K562	blood
37	chr12:47773200-47775800	Weak transcription	Adipose Nuclei	Adipose
38	chr12:47773200-47776000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:47773200-47777600	Weak transcription	Primary T cells from cord blood	blood
40	chr12:47773200-47777600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:47773200-47777600	Weak transcription	Hela-S3	cervix

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