Variant report

Variant	rs62154476
Chromosome Location	chr2:100221816-100221817
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	chr2:100210613..100213284-chr2:100220090..100221872,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10514778	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17765792	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17782372	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17782408	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58345533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58378377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59396573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60357076	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60695941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61379087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62154470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62154484	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62154485	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62154487	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62154492	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62154519	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154521	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154522	0.89[AMR][1000 genomes]
rs62154524	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154526	0.85[EUR][1000 genomes]
rs62154528	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154529	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154530	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154533	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154535	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154536	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154538	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154540	0.82[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100210600-100224200	Weak transcription	Brain Germinal Matrix	brain
2	chr2:100211000-100234200	Weak transcription	Thymus	Thymus
3	chr2:100211000-100249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:100215400-100232000	Weak transcription	Lung	lung
5	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100218200-100226400	Weak transcription	Right Atrium	heart
7	chr2:100218200-100229200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:100218200-100241400	Weak transcription	Spleen	Spleen
9	chr2:100218800-100224200	Weak transcription	Fetal Brain Female	brain
10	chr2:100219200-100225000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:100219600-100223600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:100219800-100224000	Weak transcription	Primary B cells from cord blood	blood
13	chr2:100219800-100224400	Weak transcription	HSMMtube	muscle
14	chr2:100220400-100223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:100220800-100222400	Enhancers	Fetal Brain Male	brain
16	chr2:100221200-100222200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:100221200-100222200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:100221200-100222200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:100221200-100222200	Enhancers	Osteobl	bone
20	chr2:100221200-100224800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:100221400-100222000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:100221400-100222200	Enhancers	Fetal Lung	lung
23	chr2:100221400-100222400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:100221400-100222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:100221400-100222800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:100221400-100223000	Enhancers	Ovary	ovary
27	chr2:100221400-100223200	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:100221400-100224200	Weak transcription	K562	blood
29	chr2:100221600-100222000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:100221800-100222200	Enhancers	Adipose Nuclei	Adipose

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