Variant report

Variant	rs6718629
Chromosome Location	chr2:100238749-100238750
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	chr2:100234614..100237356-chr2:100238447..100242029,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10496338	1.00[AFR][1000 genomes]
rs12466624	1.00[AFR][1000 genomes]
rs12467621	1.00[AFR][1000 genomes]
rs12468845	1.00[AFR][1000 genomes]
rs12712051	1.00[ASN][1000 genomes]
rs28369939	1.00[AFR][1000 genomes]
rs4850907	1.00[ASN][1000 genomes]
rs72817037	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72817082	1.00[AFR][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:35 , 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	chr2:100224800-100239800	Weak transcription	Right Ventricle	heart
5	chr2:100231000-100240400	Weak transcription	Fetal Kidney	kidney
6	chr2:100231400-100243400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:100232400-100242800	Weak transcription	Lung	lung
8	chr2:100234400-100243200	Enhancers	Fetal Brain Male	brain
9	chr2:100235800-100243800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100236200-100240000	Weak transcription	Fetal Heart	heart
11	chr2:100236200-100241000	Weak transcription	Adipose Nuclei	Adipose
12	chr2:100236400-100241400	Enhancers	Stomach Smooth Muscle	stomach
13	chr2:100236600-100240000	Weak transcription	Gastric	stomach
14	chr2:100236800-100249600	Weak transcription	Thymus	Thymus
15	chr2:100237000-100239600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:100237000-100239600	Enhancers	HSMMtube	muscle
17	chr2:100237000-100241600	Weak transcription	Fetal Intestine Small	intestine
18	chr2:100237400-100240600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:100237800-100238800	Enhancers	Fetal Lung	lung
20	chr2:100237800-100240000	Weak transcription	Right Atrium	heart
21	chr2:100237800-100249400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:100238000-100239800	Weak transcription	Left Ventricle	heart
23	chr2:100238000-100253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:100238400-100238800	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:100238400-100239200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:100238400-100239200	Enhancers	Fetal Stomach	stomach
27	chr2:100238400-100239400	Enhancers	Ovary	ovary
28	chr2:100238400-100239600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:100238400-100239800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:100238600-100238800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:100238600-100239400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:100238600-100239400	Enhancers	Aorta	Aorta
33	chr2:100238600-100239400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:100238600-100240600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:100238600-100242800	Enhancers	Fetal Brain Female	brain

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