Variant report

Variant	rs190720431
Chromosome Location	chr2:100688219-100688220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100683259..100685948-chr2:100686167..100688772,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100664400-100699600	Weak transcription	Aorta	Aorta
2	chr2:100679600-100689600	Weak transcription	Spleen	Spleen
3	chr2:100683000-100689000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:100683000-100698200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:100683200-100688600	Weak transcription	Fetal Brain Female	brain
6	chr2:100683200-100719600	Weak transcription	Brain Germinal Matrix	brain
7	chr2:100684400-100690600	Weak transcription	Adipose Nuclei	Adipose
8	chr2:100685000-100688400	Weak transcription	Right Atrium	heart
9	chr2:100685400-100688600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:100685400-100689000	Weak transcription	Gastric	stomach
11	chr2:100685400-100689000	Weak transcription	Ovary	ovary
12	chr2:100685800-100688600	Enhancers	Fetal Lung	lung
13	chr2:100686000-100698400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr2:100686200-100688800	Enhancers	Fetal Brain Male	brain
15	chr2:100686400-100689000	Enhancers	Thymus	Thymus
16	chr2:100686600-100689000	Enhancers	Primary T cells from cord blood	blood
17	chr2:100687000-100689200	Enhancers	Fetal Thymus	thymus
18	chr2:100687400-100690400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:100687600-100688600	Bivalent Enhancer	HepG2	liver
20	chr2:100687800-100688400	Genic enhancers	Primary B cells from cord blood	blood
21	chr2:100687800-100688600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:100687800-100688600	Flanking Active TSS	Dnd41	blood
23	chr2:100687800-100688800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:100687800-100689000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:100687800-100689000	Enhancers	Fetal Heart	heart
26	chr2:100688000-100688400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr2:100688000-100688400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:100688000-100688600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr2:100688000-100689000	Enhancers	Left Ventricle	heart
30	chr2:100688000-100689200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:100688200-100688400	Enhancers	Primary T helper cells PMA-I stimulated	--

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