Variant report

Variant	rs62154482
Chromosome Location	chr2:100226739-100226740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100219395..100221538-chr2:100225234..100227761,2	K562	blood:
2	chr2:100225933..100226951-chr2:100252763..100253732,25	MCF-7	breast:
3	chr2:100226254..100226864-chr2:100234004..100234957,3	MCF-7	breast:
4	chr2:100225916..100227069-chr2:100252788..100253814,68	MCF-7	breast:
5	chr2:100226257..100226953-chr2:100234147..100235052,3	MCF-7	breast:
6	chr2:100147728..100148249-chr2:100226349..100226948,2	MCF-7	breast:
7	chr2:100190301..100191259-chr2:100225983..100226938,12	MCF-7	breast:
8	chr2:100147721..100148524-chr2:100226171..100226860,3	MCF-7	breast:
9	chr2:100225934..100226953-chr2:100234012..100235052,7	MCF-7	breast:
10	chr2:100225789..100228747-chr2:100233469..100235694,2	MCF-7	breast:
11	chr2:100190593..100193147-chr2:100224653..100226981,2	MCF-7	breast:
12	chr2:100190175..100191220-chr2:100225883..100227013,29	MCF-7	breast:
13	chr2:100225923..100227094-chr2:100252804..100253814,22	MCF-7	breast:
14	chr2:100190256..100191243-chr2:100225950..100226862,8	MCF-7	breast:

No data

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10514778	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17765792	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17782372	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17782408	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58345533	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58378377	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59396573	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60357076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60695941	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61379087	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154468	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62154470	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154476	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62154485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154487	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62154492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62154519	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154521	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154522	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154524	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154526	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154528	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154529	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62154530	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154533	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154535	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62154536	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154538	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154540	0.83[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100211000-100234200	Weak transcription	Thymus	Thymus
2	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100215400-100232000	Weak transcription	Lung	lung
4	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:100218200-100229200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:100218200-100241400	Weak transcription	Spleen	Spleen
7	chr2:100224400-100231600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:100224800-100230400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:100224800-100230400	Weak transcription	HSMMtube	muscle
10	chr2:100224800-100237800	Weak transcription	Fetal Lung	lung
11	chr2:100224800-100239800	Weak transcription	Right Ventricle	heart
12	chr2:100225000-100227200	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:100225000-100229000	Weak transcription	Fetal Brain Female	brain
14	chr2:100225000-100231600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:100225200-100230800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:100225600-100226800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:100225600-100230200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:100225800-100226800	Enhancers	Placenta	Placenta
19	chr2:100226000-100229200	Strong transcription	Primary B cells from cord blood	blood
20	chr2:100226200-100227000	Flanking Active TSS	K562	blood
21	chr2:100226400-100226800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:100226400-100226800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:100226400-100226800	Enhancers	Fetal Brain Male	brain

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