Variant report

Variant	rs12652105
Chromosome Location	chr5:52210883-52210884
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	chr5:52082398..52083133-chr5:52210696..52211846,7	MCF-7	breast:
2	chr5:52082422..52083413-chr5:52210723..52211912,23	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10064345	0.83[ASN][1000 genomes]
rs10940279	0.81[CEU][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs1478439	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1478442	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16880506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279585	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7378552	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][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	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
3	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
4	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
7	chr5:52191600-52218400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:52192200-52211000	Weak transcription	Right Ventricle	heart
9	chr5:52192200-52218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:52192200-52219600	Weak transcription	Fetal Stomach	stomach
11	chr5:52192200-52220000	Weak transcription	Lung	lung
12	chr5:52193000-52211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:52193200-52218400	Weak transcription	Fetal Kidney	kidney
14	chr5:52193600-52211000	Weak transcription	NHLF	lung
15	chr5:52195200-52218400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:52195200-52219000	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:52197400-52211000	Weak transcription	Fetal Lung	lung
18	chr5:52198400-52213600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:52198400-52218200	Weak transcription	Aorta	Aorta
20	chr5:52200200-52213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
22	chr5:52203400-52211800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:52206200-52214800	Weak transcription	Left Ventricle	heart
24	chr5:52206400-52240800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr5:52210400-52211400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:52210600-52211000	Enhancers	Liver	Liver
27	chr5:52210600-52211000	Enhancers	HUVEC	blood vessel
28	chr5:52210600-52211000	Enhancers	NHDF-Ad	bronchial
29	chr5:52210600-52211000	Enhancers	Osteobl	bone
30	chr5:52210600-52211200	Enhancers	Colon Smooth Muscle	Colon
31	chr5:52210600-52211400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:52210600-52211400	Enhancers	Primary T cells from cord blood	blood
33	chr5:52210600-52211400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:52210600-52211400	Enhancers	Hela-S3	cervix
35	chr5:52210600-52211600	Genic enhancers	Dnd41	blood
36	chr5:52210800-52211000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:52210800-52211000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:52210800-52211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:52210800-52211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:52210800-52211000	Enhancers	Adipose Nuclei	Adipose
41	chr5:52210800-52211000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr5:52210800-52211200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:52210800-52211200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr5:52210800-52211400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr5:52210800-52211400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:52210800-52211400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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