Variant report

Variant	rs1384743
Chromosome Location	chr2:67517625-67517626
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	chr2:67516496..67518778-chr2:67521875..67524177,2	MCF-7	breast:
2	chr2:67485040..67487535-chr2:67517443..67519386,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10496153	0.84[CEU][hapmap]
rs1063571	0.84[CEU][hapmap]
rs12988210	0.83[AFR][1000 genomes]
rs12996359	0.83[AFR][1000 genomes]
rs13015319	0.83[AFR][1000 genomes]
rs13016330	0.83[AFR][1000 genomes]
rs13018272	0.83[AFR][1000 genomes]
rs13026513	0.83[AFR][1000 genomes]
rs13030037	0.85[CEU][hapmap]
rs13030211	0.85[CEU][hapmap]
rs13036061	0.84[CEU][hapmap]
rs1384744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17544516	0.83[AFR][1000 genomes]
rs17544551	0.83[AFR][1000 genomes]
rs17545245	0.85[CEU][hapmap]
rs17603029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17603914	0.83[AFR][1000 genomes]
rs2170703	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2171176	0.83[AFR][1000 genomes]
rs34262449	0.83[AFR][1000 genomes]
rs34274370	0.83[AFR][1000 genomes]
rs34281542	0.83[AFR][1000 genomes]
rs34286589	0.83[AFR][1000 genomes]
rs34547630	0.83[AFR][1000 genomes]
rs34636997	0.83[AFR][1000 genomes]
rs34997300	0.83[AFR][1000 genomes]
rs35141978	0.83[AFR][1000 genomes]
rs35570926	0.83[AFR][1000 genomes]
rs35607813	0.83[AFR][1000 genomes]
rs35610403	0.83[AFR][1000 genomes]
rs4274583	0.85[EUR][1000 genomes]
rs4605358	0.93[EUR][1000 genomes]
rs56880806	0.85[EUR][1000 genomes]
rs58349979	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60181254	0.85[EUR][1000 genomes]
rs62146349	0.83[AFR][1000 genomes]
rs62154898	0.83[AFR][1000 genomes]
rs62154949	0.83[AFR][1000 genomes]
rs62154950	0.83[AFR][1000 genomes]
rs62154951	0.83[AFR][1000 genomes]
rs62154952	0.83[AFR][1000 genomes]
rs62156538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156542	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62156547	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62158280	0.87[EUR][1000 genomes]
rs62158281	0.85[EUR][1000 genomes]
rs62158282	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62158290	0.83[AFR][1000 genomes]
rs6741192	0.91[CEU][hapmap]
rs7573357	0.85[EUR][1000 genomes]
rs7606736	0.85[EUR][1000 genomes]
rs874236	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67516000-67518600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:67516000-67518600	Enhancers	NHEK	skin
3	chr2:67516000-67519200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:67516400-67518400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67516400-67518400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:67516400-67518600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:67516400-67518600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:67516400-67518600	Enhancers	NHLF	lung
9	chr2:67516600-67518200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:67516600-67518200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:67516600-67518400	Enhancers	NH-A	brain
12	chr2:67516600-67518600	Enhancers	HUVEC	blood vessel
13	chr2:67516600-67518600	Enhancers	Osteobl	bone
14	chr2:67516800-67518200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:67516800-67518400	Enhancers	HSMMtube	muscle
16	chr2:67517000-67518000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:67517000-67519200	Enhancers	Hela-S3	cervix
18	chr2:67517000-67521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:67517000-67522400	Weak transcription	A549	lung
20	chr2:67517000-67523000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:67517400-67517800	Weak transcription	HMEC	breast
22	chr2:67517400-67518000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:67517400-67518600	Enhancers	HSMM	muscle
24	chr2:67517600-67517800	Flanking Active TSS	NHDF-Ad	bronchial

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