Variant report

Variant	rs562751512
Chromosome Location	chr12:2017737-2017738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1947445..1949197-chr12:2016726..2018832,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv557000	chr12:2008548-2045640	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3407700	chr12:2017665-2018066	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3503574	chr12:2017725-2018127	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2016800-2017800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr12:2016800-2017800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:2016800-2017800	Enhancers	Left Ventricle	heart
4	chr12:2016800-2017800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr12:2017000-2017800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:2017000-2017800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr12:2017200-2017800	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:2017200-2017800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr12:2017400-2017800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:2017400-2017800	Enhancers	Pancreas	Pancrea
11	chr12:2017400-2018000	Weak transcription	Spleen	Spleen
12	chr12:2017600-2017800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr12:2017600-2017800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr12:2017600-2017800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:2017600-2017800	Enhancers	Gastric	stomach
16	chr12:2017600-2017800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr12:2017600-2017800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:2017600-2017800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr12:2017600-2018200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:2017600-2018200	Enhancers	HMEC	breast
21	chr12:2017600-2018400	Bivalent Enhancer	Placenta	Placenta

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