Variant report

Variant	rs59718780
Chromosome Location	chr2:100241049-100241050
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:
2	chr2:100235005..100237122-chr2:100239914..100243386,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs61173769	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966250	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966268	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966270	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964183	0.85[AFR][1000 genomes];1.00[AMR][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:29 , 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	chr2:100231400-100243400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:100232400-100242800	Weak transcription	Lung	lung
6	chr2:100234400-100243200	Enhancers	Fetal Brain Male	brain
7	chr2:100235800-100243800	Strong transcription	Primary B cells from cord blood	blood
8	chr2:100236400-100241400	Enhancers	Stomach Smooth Muscle	stomach
9	chr2:100236800-100249600	Weak transcription	Thymus	Thymus
10	chr2:100237000-100241600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:100237800-100249400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:100238000-100253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:100238600-100242800	Enhancers	Fetal Brain Female	brain
14	chr2:100238800-100252600	Weak transcription	Fetal Lung	lung
15	chr2:100239400-100242400	Weak transcription	Ovary	ovary
16	chr2:100239600-100257200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:100239800-100241400	Enhancers	Left Ventricle	heart
18	chr2:100240000-100242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:100240000-100243200	Enhancers	Fetal Heart	heart
20	chr2:100240400-100241600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:100240400-100241600	Enhancers	Brain Germinal Matrix	brain
22	chr2:100240400-100243200	Weak transcription	Right Atrium	heart
23	chr2:100240600-100241400	Enhancers	Brain Anterior Caudate	brain
24	chr2:100240600-100241800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:100240600-100249600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:100240800-100241400	Weak transcription	Right Ventricle	heart
27	chr2:100240800-100241600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:100241000-100241400	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:100241000-100241600	Enhancers	Adipose Nuclei	Adipose

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