Variant report

Variant	rs543622179
Chromosome Location	chr12:9114818-9114819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv819596	chr12:9113514-9141537	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9103400-9116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:9106600-9116000	Weak transcription	Left Ventricle	heart
3	chr12:9108600-9115200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:9109000-9115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:9109000-9121600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:9111000-9115600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:9112200-9116800	Weak transcription	Pancreas	Pancrea
8	chr12:9113400-9115000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:9113600-9115000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:9113600-9116000	Weak transcription	Thymus	Thymus
11	chr12:9113800-9115600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:9114600-9115400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:9114800-9115000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:9114800-9115600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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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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