Variant report

Variant	rs1203728
Chromosome Location	chr7:40755146-40755147
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	chr7:40754402..40757176-chr7:40759198..40761990,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10250246	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10280713	0.85[CEU][hapmap]
rs10486813	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10951638	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1146040	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203725	0.94[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs1203726	0.90[ASN][1000 genomes]
rs1203727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203730	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1203731	0.80[EUR][1000 genomes]
rs1203733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1203739	0.81[EUR][1000 genomes]
rs12701825	0.85[CEU][hapmap]
rs12701826	0.85[CEU][hapmap]
rs13235741	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13239043	0.82[CEU][hapmap]
rs17171762	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs17171763	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17171764	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1811209	1.00[CEU][hapmap]
rs1921750	0.89[ASN][1000 genomes]
rs2011636	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35428147	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4050983	0.95[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs57655172	0.89[ASN][1000 genomes]
rs62451217	0.82[ASN][1000 genomes]
rs62451219	0.86[ASN][1000 genomes]
rs6462987	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6947078	0.82[CEU][hapmap]
rs6952969	0.85[CEU][hapmap]
rs6958129	0.85[CEU][hapmap]
rs6959899	0.95[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs6965055	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6978898	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73310278	0.86[ASN][1000 genomes]
rs73310281	0.87[ASN][1000 genomes]
rs7808606	0.95[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.94[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	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40751800-40755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:40751800-40757000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:40752000-40755600	Weak transcription	NHEK	skin
4	chr7:40752200-40755400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:40752600-40756200	Enhancers	Ovary	ovary
6	chr7:40752800-40755800	Enhancers	Aorta	Aorta
7	chr7:40752800-40756600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:40753200-40755400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:40753200-40756600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:40753400-40756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:40753800-40755400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:40753800-40755800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:40753800-40755800	Enhancers	Fetal Muscle Leg	muscle
14	chr7:40753800-40756600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:40753800-40758200	Enhancers	Osteobl	bone
16	chr7:40754000-40756200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:40754000-40757800	Enhancers	HSMM	muscle
18	chr7:40754000-40758200	Enhancers	NHDF-Ad	bronchial
19	chr7:40754200-40756200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:40754200-40757400	Enhancers	HMEC	breast
21	chr7:40754400-40756200	Enhancers	HSMMtube	muscle
22	chr7:40754600-40755200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:40754600-40756400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:40754600-40757200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:40754800-40755200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:40754800-40755600	Enhancers	Right Atrium	heart
27	chr7:40754800-40755600	Weak transcription	NH-A	brain
28	chr7:40754800-40755800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:40754800-40755800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:40754800-40755800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr7:40755000-40757400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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