Variant report

Variant	rs550086475
Chromosome Location	chr12:12131635-12131636
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898805	chr12:12119414-12156322	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19512	chr12:12130988-12147206	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12128800-12134400	Weak transcription	Right Atrium	heart
2	chr12:12129600-12132600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:12129600-12132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:12129800-12132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:12130400-12137400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:12131000-12132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:12131000-12135600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:12131000-12135600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:12131600-12131800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:12131600-12131800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:12131600-12132000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:12131600-12132000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:12131600-12132400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:12131600-12132400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:12131600-12132400	Enhancers	NH-A	brain
16	chr12:12131600-12132400	Enhancers	NHEK	skin
17	chr12:12131600-12132400	Enhancers	Osteobl	bone
18	chr12:12131600-12132600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:12131600-12132600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:12131600-12133000	Enhancers	GM12878-XiMat	blood
21	chr12:12131600-12133000	Enhancers	HMEC	breast
22	chr12:12131600-12133200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:12131600-12134200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:12131600-12134400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:12131600-12135400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:12131600-12135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:12131600-12135600	Enhancers	Primary T cells fromperipheralblood	blood

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