Variant report

Variant	rs56323431
Chromosome Location	chr2:100515187-100515188
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	chr2:100511940..100515232-chr2:100515951..100517611,3	K562	blood:
2	chr2:100513847..100516211-chr2:100521500..100523051,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6741766	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100499200-100533400	Weak transcription	Aorta	Aorta
2	chr2:100503800-100523200	Weak transcription	Thymus	Thymus
3	chr2:100506600-100517800	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:100507600-100517000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100508200-100516600	Weak transcription	Brain Germinal Matrix	brain
6	chr2:100508200-100520400	Weak transcription	Fetal Kidney	kidney
7	chr2:100509200-100519200	Strong transcription	Primary B cells from cord blood	blood
8	chr2:100509400-100515400	Weak transcription	Ovary	ovary
9	chr2:100510600-100517000	Weak transcription	Fetal Heart	heart
10	chr2:100513800-100515400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:100513800-100515600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:100514000-100515600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:100514400-100515200	Enhancers	Liver	Liver
14	chr2:100514400-100515400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:100514400-100515400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:100514600-100515400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:100514800-100515200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:100514800-100515200	Enhancers	Fetal Brain Female	brain
19	chr2:100514800-100515200	ZNF genes & repeats	Lung	lung
20	chr2:100514800-100515600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:100514800-100515600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:100514800-100517600	Enhancers	Pancreas	Pancrea
23	chr2:100515000-100515600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:100515000-100515600	Enhancers	Spleen	Spleen
25	chr2:100515000-100517000	Weak transcription	Left Ventricle	heart

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