Variant report

Variant	rs530433180
Chromosome Location	chr2:11994133-11994134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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
9	esv3513679	chr2:11993517-11995547	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3460985	chr2:11993742-11995583	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3460987	chr2:11993742-11995583	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2513600	chr2:11993778-11995523	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3398186	chr2:11993951-11994748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv16551	chr2:11994005-11995300	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv820510	chr2:11994005-11995300	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3433675	chr2:11994127-11995652	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11990600-11995000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11990600-11998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:11991400-11995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:11991800-12003000	Weak transcription	Right Atrium	heart
5	chr2:11993600-11995400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:11993600-11996800	Weak transcription	Lung	lung
7	chr2:11993800-11995000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:11993800-11995600	Weak transcription	GM12878-XiMat	blood
9	chr2:11994000-11995000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:11994000-11995200	Weak transcription	Spleen	Spleen

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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