Variant report

Variant	rs12712051
Chromosome Location	chr2:100241519-100241520
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	chr2:100234614..100237356-chr2:100238447..100242029,3	K562	blood:
2	chr2:100235005..100237122-chr2:100239914..100243386,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4850907	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6718629	1.00[ASN][1000 genomes]
rs72817037	1.00[ASN][1000 genomes]

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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100231400-100243400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:100232400-100242800	Weak transcription	Lung	lung
5	chr2:100234400-100243200	Enhancers	Fetal Brain Male	brain
6	chr2:100235800-100243800	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100236800-100249600	Weak transcription	Thymus	Thymus
8	chr2:100237000-100241600	Weak transcription	Fetal Intestine Small	intestine
9	chr2:100237800-100249400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:100238000-100253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:100238600-100242800	Enhancers	Fetal Brain Female	brain
12	chr2:100238800-100252600	Weak transcription	Fetal Lung	lung
13	chr2:100239400-100242400	Weak transcription	Ovary	ovary
14	chr2:100239600-100257200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:100240000-100242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:100240000-100243200	Enhancers	Fetal Heart	heart
17	chr2:100240400-100241600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:100240400-100241600	Enhancers	Brain Germinal Matrix	brain
19	chr2:100240400-100243200	Weak transcription	Right Atrium	heart
20	chr2:100240600-100241800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:100240600-100249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:100240800-100241600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:100241000-100241600	Enhancers	Adipose Nuclei	Adipose
24	chr2:100241400-100241600	Enhancers	Right Ventricle	heart

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