Variant report

Variant	rs552570708
Chromosome Location	chr2:100388617-100388618
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	chr2:100382265..100384877-chr2:100386362..100389420,3	K562	blood:
2	chr2:100380582..100383387-chr2:100384960..100390106,4	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv2757820	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759078	chr2:100380891-100546675	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1010971	chr2:100387986-100431935	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100357600-100389400	Weak transcription	Thymus	Thymus
2	chr2:100360000-100394600	Weak transcription	Dnd41	blood
3	chr2:100380000-100393200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:100382400-100390600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:100384200-100404400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:100386200-100390000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:100386400-100389600	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:100386600-100388800	Weak transcription	Fetal Kidney	kidney
9	chr2:100386800-100394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:100387200-100389200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:100387200-100389400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100387200-100391400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:100387400-100389200	Weak transcription	Placenta	Placenta
14	chr2:100387400-100390600	Enhancers	K562	blood
15	chr2:100387600-100389200	Weak transcription	Lung	lung
16	chr2:100387600-100392400	Weak transcription	Fetal Brain Female	brain
17	chr2:100388000-100388800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr2:100388200-100389200	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
19	chr2:100388200-100389600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:100388200-100389800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:100388200-100389800	Enhancers	Colon Smooth Muscle	Colon
22	chr2:100388200-100390200	Enhancers	Fetal Thymus	thymus
23	chr2:100388400-100389000	Enhancers	Fetal Brain Male	brain
24	chr2:100388400-100389600	Enhancers	Right Atrium	heart
25	chr2:100388400-100389800	Enhancers	Fetal Heart	heart
26	chr2:100388400-100390200	Enhancers	Fetal Lung	lung
27	chr2:100388400-100391200	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:100388600-100389000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:100388600-100389600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:100388600-100389600	Enhancers	Ovary	ovary
31	chr2:100388600-100390600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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