Variant report

Variant	rs11760488
Chromosome Location	chr7:47827283-47827284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47672004..47676377-chr7:47825197..47828520,6	MCF-7	breast:
2	chr7:47730789..47733579-chr7:47824840..47827791,2	MCF-7	breast:
3	chr7:47673413..47676550-chr7:47822059..47827530,9	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11760507	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11773708	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545279	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627690	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17627715	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17627805	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348460	0.82[YRI][hapmap]
rs56389109	1.00[ASN][1000 genomes]
rs57776866	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73093188	0.91[ASN][1000 genomes]
rs73097428	1.00[ASN][1000 genomes]
rs73097433	1.00[ASN][1000 genomes]
rs73097435	1.00[ASN][1000 genomes]
rs73101473	1.00[ASN][1000 genomes]
rs73101483	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73103416	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103428	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47821400-47827600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:47821400-47827600	Enhancers	HSMM	muscle
4	chr7:47821600-47827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:47821600-47827600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:47821600-47827600	Enhancers	Osteobl	bone
7	chr7:47821600-47827800	Enhancers	HMEC	breast
8	chr7:47822200-47827400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:47822400-47827600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:47823000-47827600	Enhancers	Fetal Stomach	stomach
11	chr7:47823400-47827400	Enhancers	Stomach Smooth Muscle	stomach
12	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
14	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
15	chr7:47823800-47827600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:47824000-47827600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:47824400-47827400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:47824400-47827600	Enhancers	Placenta	Placenta
19	chr7:47824600-47827400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:47824600-47827600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:47824600-47827600	Enhancers	Fetal Intestine Small	intestine
22	chr7:47825600-47827400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:47825600-47827600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:47825800-47827400	Flanking Active TSS	HepG2	liver
25	chr7:47826200-47827600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:47826600-47827400	Weak transcription	Right Atrium	heart
27	chr7:47826600-47827800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:47826600-47828400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:47826600-47844000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:47826800-47827600	Enhancers	Pancreas	Pancrea
31	chr7:47826800-47827600	Flanking Active TSS	A549	lung
32	chr7:47827000-47827600	Enhancers	Hela-S3	cervix
33	chr7:47827000-47827600	Enhancers	HUVEC	blood vessel
34	chr7:47827000-47827600	Enhancers	NH-A	brain
35	chr7:47827000-47827600	Enhancers	NHEK	skin
36	chr7:47827000-47831600	Weak transcription	HSMMtube	muscle
37	chr7:47827000-47851400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:47827200-47831800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:47827200-47832400	Weak transcription	NHDF-Ad	bronchial
40	chr7:47827200-47833000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:47827200-47835000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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