Variant report

Variant	rs10932230
Chromosome Location	chr2:208929184-208929185
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: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10932229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11675578	0.98[AFR][1000 genomes]
rs11690313	0.81[EUR][1000 genomes]
rs13415380	0.92[YRI][hapmap]

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:27 , 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	chr2:208928400-208929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:208928400-208929800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:208928600-208929800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:208928600-208929800	Enhancers	Osteobl	bone
6	chr2:208928800-208929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:208928800-208929200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:208928800-208929600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:208928800-208929600	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:208928800-208929600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:208928800-208929600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:208928800-208929800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:208928800-208929800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:208928800-208929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:208928800-208929800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:208928800-208929800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:208928800-208929800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:208928800-208929800	Enhancers	HSMM	muscle
19	chr2:208928800-208929800	Enhancers	NH-A	brain
20	chr2:208928800-208929800	Enhancers	NHDF-Ad	bronchial
21	chr2:208928800-208929800	Enhancers	NHLF	lung
22	chr2:208928800-208930400	Weak transcription	Fetal Brain Male	brain
23	chr2:208929000-208929200	Enhancers	GM12878-XiMat	blood
24	chr2:208929000-208929200	Enhancers	K562	blood
25	chr2:208929000-208929600	Enhancers	HMEC	breast
26	chr2:208929000-208929800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:208929000-208929800	Enhancers	HSMMtube	muscle

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