Variant report

Variant	rs17028348
Chromosome Location	chr2:64263931-64263932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64256991..64258692-chr2:64262523..64264445,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10167126	0.81[EUR][1000 genomes]
rs10184342	0.81[EUR][1000 genomes]
rs10207972	0.81[EUR][1000 genomes]
rs10496104	0.90[AFR][1000 genomes]
rs11896894	0.90[AFR][1000 genomes]
rs11899693	0.88[AFR][1000 genomes]
rs13391983	0.81[EUR][1000 genomes]
rs13392513	0.81[EUR][1000 genomes]
rs17028239	0.89[AFR][1000 genomes]
rs17028316	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17028343	0.95[AFR][1000 genomes]
rs17028356	0.95[AFR][1000 genomes]
rs1975295	0.81[EUR][1000 genomes]
rs1975296	0.81[EUR][1000 genomes]
rs2422112	0.81[EUR][1000 genomes]
rs2901644	0.81[EUR][1000 genomes]
rs35121160	0.81[EUR][1000 genomes]
rs35693031	0.92[AFR][1000 genomes]
rs4277507	0.89[AFR][1000 genomes]
rs4470330	0.89[AFR][1000 genomes]
rs4507090	0.81[EUR][1000 genomes]
rs55977137	0.93[AFR][1000 genomes]
rs56053068	0.93[AFR][1000 genomes]
rs56155077	0.91[AFR][1000 genomes]
rs56674285	0.93[AFR][1000 genomes]
rs56677212	0.95[AFR][1000 genomes]
rs56978264	0.85[AFR][1000 genomes]
rs57085982	0.89[AFR][1000 genomes]
rs57101313	0.97[AFR][1000 genomes]
rs57202709	0.95[AFR][1000 genomes]
rs57936760	0.93[AFR][1000 genomes]
rs58074696	0.94[AFR][1000 genomes]
rs58198691	0.90[AFR][1000 genomes]
rs58297806	0.94[AFR][1000 genomes]
rs58982089	0.93[AFR][1000 genomes]
rs59156176	0.91[AFR][1000 genomes]
rs59335889	0.90[AFR][1000 genomes]
rs59736629	0.93[AFR][1000 genomes]
rs60350159	0.94[AFR][1000 genomes]
rs60847776	0.88[AFR][1000 genomes]
rs61383573	0.96[AFR][1000 genomes]
rs61389158	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61486417	0.93[AFR][1000 genomes]
rs62136407	0.86[AFR][1000 genomes]
rs62136423	0.88[AFR][1000 genomes]
rs62136429	0.91[AFR][1000 genomes]
rs73935051	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64261200-64266200	Weak transcription	HepG2	liver
3	chr2:64261800-64264200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:64261800-64264800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:64262200-64264400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:64262400-64264000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:64262600-64264000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:64262800-64264000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:64262800-64264000	Enhancers	NHEK	skin
10	chr2:64262800-64264400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:64263000-64264000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:64263000-64264000	Enhancers	NHDF-Ad	bronchial
13	chr2:64263200-64264000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:64263200-64264000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:64263200-64264000	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:64263200-64264000	Enhancers	HUVEC	blood vessel
17	chr2:64263200-64264400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:64263600-64264000	Enhancers	Primary T cells from cord blood	blood
19	chr2:64263600-64264000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr2:64263600-64264000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:64263600-64264000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:64263600-64264000	Enhancers	Dnd41	blood
23	chr2:64263600-64264000	Enhancers	GM12878-XiMat	blood
24	chr2:64263600-64264000	Enhancers	Osteobl	bone
25	chr2:64263600-64264400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:64263600-64266800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:64263800-64264000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:64263800-64264200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:64263800-64264200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:64263800-64264200	Weak transcription	Fetal Thymus	thymus
31	chr2:64263800-64264400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:64263800-64266400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:64263800-64267400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:64263800-64267600	Weak transcription	HMEC	breast

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