Variant report

Variant	rs200525861
Chromosome Location	chr12:10777263-10777264
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	chr12:10771877..10773786-chr12:10773916..10777458,3	K562	blood:
2	chr12:10770221..10774557-chr12:10774772..10778392,5	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv607	chr12:10776867-10821535	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10766600-10794400	Weak transcription	Gastric	stomach
4	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
5	chr12:10767000-10778400	Weak transcription	Colonic Mucosa	Colon
6	chr12:10767200-10780600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:10767200-10781200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:10770600-10777600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:10771400-10782200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:10772000-10787200	Weak transcription	NHEK	skin
11	chr12:10772400-10780600	Weak transcription	HMEC	breast
12	chr12:10773000-10780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:10773000-10786600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:10773000-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:10773400-10787000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:10774600-10777800	Enhancers	NHDF-Ad	bronchial
17	chr12:10774600-10784000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:10774600-10784400	Weak transcription	HSMMtube	muscle
19	chr12:10775200-10777600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:10775200-10780600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:10776200-10784200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:10776200-10785200	Weak transcription	HSMM	muscle
23	chr12:10776400-10777800	Genic enhancers	HUVEC	blood vessel
24	chr12:10776600-10777600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:10776600-10777800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:10776800-10777600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:10777200-10777600	Genic enhancers	Rectal Mucosa Donor 31	rectum
28	chr12:10777200-10777800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:10777200-10781000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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