Variant report

Variant	rs12652219
Chromosome Location	chr5:36503930-36503931
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	chr5:36499725..36501562-chr5:36503562..36506280,2	MCF-7	breast:
2	chr5:36498212..36500819-chr5:36503623..36505516,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10805615	1.00[ASN][1000 genomes]
rs10805616	1.00[ASN][1000 genomes]
rs10941298	0.90[EUR][1000 genomes]
rs11745030	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11746647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11748292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13166425	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13168912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17359426	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562582	1.00[LWK][hapmap]
rs2731888	0.86[ASN][1000 genomes]
rs2731891	0.82[EUR][1000 genomes]
rs34546912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34788729	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35371171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35659611	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36067088	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4358550	1.00[ASN][1000 genomes]
rs4484459	0.95[ASN][1000 genomes]
rs55959609	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8180422	1.00[AFR][1000 genomes];0.83[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	nsv881666	chr5:36498183-36537369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36501800-36504000	Enhancers	HMEC	breast
2	chr5:36501800-36504200	Enhancers	HSMMtube	muscle
3	chr5:36501800-36504600	Enhancers	HSMM	muscle
4	chr5:36501800-36506000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:36502000-36504000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:36502000-36504000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:36502000-36504000	Enhancers	NH-A	brain
8	chr5:36502000-36504200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:36502000-36504400	Enhancers	NHDF-Ad	bronchial
10	chr5:36502000-36504400	Enhancers	Osteobl	bone
11	chr5:36502200-36504600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:36502200-36504600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:36502400-36504200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:36502600-36504600	Enhancers	Adipose Nuclei	Adipose
15	chr5:36502800-36504400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:36503000-36505000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:36503200-36504000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:36503200-36504800	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:36503200-36505600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:36503200-36507600	Weak transcription	NHEK	skin
21	chr5:36503400-36504200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:36503400-36505400	Enhancers	Hela-S3	cervix
23	chr5:36503600-36504400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:36503600-36504400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:36503800-36504000	Enhancers	Stomach Smooth Muscle	stomach
26	chr5:36503800-36504400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:36503800-36504600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:36503800-36505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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