Variant report

Variant	rs11690313
Chromosome Location	chr2:208928951-208928952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208926513..208930859-chr2:208931530..208934190,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10932230	0.81[EUR][1000 genomes]

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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208912800-208929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:208927800-208929000	Weak transcription	K562	blood
3	chr2:208928400-208929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:208928400-208929800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:208928600-208929800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:208928600-208929800	Enhancers	Osteobl	bone
7	chr2:208928800-208929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:208928800-208929200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:208928800-208929600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:208928800-208929600	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:208928800-208929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:208928800-208929600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:208928800-208929800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:208928800-208929800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:208928800-208929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:208928800-208929800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:208928800-208929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:208928800-208929800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:208928800-208929800	Enhancers	HSMM	muscle
20	chr2:208928800-208929800	Enhancers	NH-A	brain
21	chr2:208928800-208929800	Enhancers	NHDF-Ad	bronchial
22	chr2:208928800-208929800	Enhancers	NHLF	lung
23	chr2:208928800-208930400	Weak transcription	Fetal Brain Male	brain

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