Variant report

Variant	rs2595382
Chromosome Location	chr2:187629495-187629496
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187627243..187630051-chr2:187634032..187636877,3	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10178617	1.00[ASN][1000 genomes]
rs10211436	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395234	0.88[EUR][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	1.00[ASN][1000 genomes]
rs13430921	1.00[ASN][1000 genomes]
rs17406098	1.00[ASN][1000 genomes]
rs2122176	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	1.00[ASN][1000 genomes]
rs2594701	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	0.89[CEU][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595381	0.89[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	1.00[ASN][1000 genomes]
rs2595392	1.00[ASN][1000 genomes]
rs2595394	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682850	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	1.00[ASN][1000 genomes]
rs2682857	1.00[ASN][1000 genomes]
rs2682862	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	1.00[ASN][1000 genomes]
rs3114944	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666589	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs7424602	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7564965	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581547	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
4	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:187627200-187631600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:187627200-187636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:187627400-187629600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:187627400-187630200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:187627600-187629600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:187627600-187629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:187627600-187629600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:187627600-187629600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:187627600-187629600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:187627600-187629600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:187627600-187629600	Weak transcription	Fetal Stomach	stomach
18	chr2:187627600-187629800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:187627600-187629800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:187627600-187633000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:187627600-187634000	Weak transcription	Placenta	Placenta
22	chr2:187627600-187635200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:187627800-187629600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:187627800-187629600	Weak transcription	Fetal Brain Female	brain
25	chr2:187627800-187629800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:187627800-187630000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:187628000-187635200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:187628600-187633200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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