Variant report

Variant	rs11183931
Chromosome Location	chr12:47786275-47786276
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	chr12:47613611..47616531-chr12:47785792..47787897,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10785677	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2015389	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9634311	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs982648	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47771600-47786800	Weak transcription	Fetal Brain Male	brain
2	chr12:47778000-47790600	Weak transcription	Right Atrium	heart
3	chr12:47778800-47786400	Weak transcription	HUVEC	blood vessel
4	chr12:47783000-47786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:47783200-47787000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:47783200-47787400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:47783200-47787800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:47783600-47786600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:47783800-47788200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:47784000-47791200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:47784200-47789400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:47784400-47787400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:47784400-47789400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr12:47784600-47786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:47784600-47787600	Enhancers	Primary T cells from cord blood	blood
16	chr12:47784600-47788400	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:47784600-47791800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:47784800-47788000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:47785000-47786600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:47785200-47786400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:47785400-47786600	Weak transcription	NHEK	skin
22	chr12:47785400-47786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:47785400-47791000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:47785600-47786600	Weak transcription	A549	lung
25	chr12:47785600-47786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:47785800-47787800	Enhancers	Primary hematopoietic stem cells	blood
27	chr12:47785800-47788400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:47785800-47789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:47785800-47790400	Weak transcription	Hela-S3	cervix
30	chr12:47786000-47786600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:47786000-47786800	Weak transcription	Fetal Brain Female	brain
32	chr12:47786000-47788400	Enhancers	Colon Smooth Muscle	Colon
33	chr12:47786000-47789400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:47786000-47789600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:47786000-47790200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:47786200-47786600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr12:47786200-47787000	Weak transcription	NHLF	lung
38	chr12:47786200-47790400	Weak transcription	Spleen	Spleen

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