Variant report

Variant	rs12683537
Chromosome Location	chr9:117907889-117907890
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117907106..117909131-chr9:117912075..117914540,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10122596	1.00[EUR][1000 genomes]
rs10465110	0.95[JPT][hapmap]
rs10817717	0.95[JPT][hapmap]
rs10982619	1.00[MEX][hapmap]
rs12343517	0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12685855	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1335346	0.86[JPT][hapmap];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3748164	0.99[ASN][1000 genomes]
rs3748165	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3827816	0.91[CHB][hapmap]
rs56883831	0.98[ASN][1000 genomes]
rs57178492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57245991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57262272	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57654109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59797450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6478135	0.86[JPT][hapmap];1.00[MEX][hapmap]
rs6478143	0.86[JPT][hapmap]
rs7031771	0.95[JPT][hapmap]
rs7866441	0.86[JPT][hapmap]

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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117890200-117909000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:117900000-117908400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:117904200-117909200	Weak transcription	Aorta	Aorta
4	chr9:117904800-117910000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:117904800-117910200	Enhancers	NHDF-Ad	bronchial
6	chr9:117905000-117910000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:117905000-117910200	Enhancers	Osteobl	bone
8	chr9:117905400-117908000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:117905400-117908200	Weak transcription	NHLF	lung
10	chr9:117905600-117908400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:117906000-117908400	Weak transcription	HSMM	muscle
12	chr9:117906000-117909200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:117906800-117910400	Enhancers	Rectal Smooth Muscle	rectum
14	chr9:117907000-117909400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:117907000-117910000	Enhancers	NH-A	brain
16	chr9:117907200-117908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:117907200-117908400	Weak transcription	Fetal Stomach	stomach
18	chr9:117907200-117909200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:117907400-117908400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:117907400-117908400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr9:117907400-117908400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr9:117907600-117908600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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