Variant report

Variant	rs55779695
Chromosome Location	chr2:100236091-100236092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100235005..100237122-chr2:100239914..100243386,3	K562	blood:
2	chr2:100234614..100237356-chr2:100238447..100242029,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11123788	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11682649	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12712053	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851213	0.80[EUR][1000 genomes]
rs7575682	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:100218200-100241400	Weak transcription	Spleen	Spleen
4	chr2:100224800-100237800	Weak transcription	Fetal Lung	lung
5	chr2:100224800-100239800	Weak transcription	Right Ventricle	heart
6	chr2:100231000-100237000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:100231000-100240400	Weak transcription	Fetal Kidney	kidney
8	chr2:100231200-100238600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:100231400-100243400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:100232400-100238600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:100232400-100242800	Weak transcription	Lung	lung
12	chr2:100234400-100243200	Enhancers	Fetal Brain Male	brain
13	chr2:100234600-100237000	Weak transcription	Placenta	Placenta
14	chr2:100235200-100237600	Enhancers	Fetal Brain Female	brain
15	chr2:100235400-100236200	Enhancers	Fetal Muscle Leg	muscle
16	chr2:100235400-100237800	Enhancers	Right Atrium	heart
17	chr2:100235600-100236400	Enhancers	Fetal Thymus	thymus
18	chr2:100235800-100236200	Enhancers	Adipose Nuclei	Adipose
19	chr2:100235800-100238000	Enhancers	Left Ventricle	heart
20	chr2:100235800-100243800	Strong transcription	Primary B cells from cord blood	blood
21	chr2:100236000-100236200	Enhancers	Fetal Heart	heart
22	chr2:100236000-100236200	Enhancers	Fetal Muscle Trunk	muscle
23	chr2:100236000-100236800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:100236000-100236800	Enhancers	Thymus	Thymus
25	chr2:100236000-100237000	Weak transcription	HSMMtube	muscle

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