Variant report

Variant	rs2716633
Chromosome Location	chr2:11995782-11995783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16857959	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2577268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2716622	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2716623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508710	chr2:11982971-12028555	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv511765	chr2:11993304-11996344	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3513680	chr2:11993451-11995999	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3513681	chr2:11993451-11995999	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11990600-11998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:11991800-12003000	Weak transcription	Right Atrium	heart
3	chr2:11993600-11996800	Weak transcription	Lung	lung
4	chr2:11994800-12003600	Weak transcription	Gastric	stomach
5	chr2:11995000-11997800	Enhancers	Primary B cells from cord blood	blood
6	chr2:11995000-11999800	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:11995200-11995800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11995200-11995800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11995200-11995800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr2:11995200-11995800	Enhancers	Spleen	Spleen
11	chr2:11995400-11996000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr2:11995400-11997000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:11995400-11997200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr2:11995600-11995800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:11995600-11996400	Enhancers	GM12878-XiMat	blood
16	chr2:11995600-11996600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:11995600-11997000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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