Variant report

Variant	rs73717512
Chromosome Location	chr7:111851078-111851079
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111850231..111853782-chr7:112032412..112034689,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11976430	1.00[AFR][1000 genomes]
rs34571830	0.93[AFR][1000 genomes]
rs55731771	1.00[AFR][1000 genomes]
rs55935391	1.00[AMR][1000 genomes]
rs56237403	1.00[AMR][1000 genomes]
rs57297756	1.00[AMR][1000 genomes]
rs61142815	1.00[AFR][1000 genomes]
rs61662262	1.00[AMR][1000 genomes]
rs73715410	1.00[AMR][1000 genomes]
rs73715412	1.00[AMR][1000 genomes]
rs73715414	1.00[AMR][1000 genomes]
rs73715415	1.00[AMR][1000 genomes]
rs73715416	1.00[AMR][1000 genomes]
rs73715422	1.00[AMR][1000 genomes]
rs73715431	1.00[AMR][1000 genomes]
rs73715472	1.00[AMR][1000 genomes]
rs73715473	1.00[AMR][1000 genomes]
rs73715474	1.00[AMR][1000 genomes]
rs73715492	1.00[AMR][1000 genomes]
rs73715502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717517	1.00[AFR][1000 genomes]
rs73717527	1.00[AFR][1000 genomes]
rs73717530	1.00[AFR][1000 genomes]
rs73717532	0.93[AFR][1000 genomes]
rs73717533	0.93[AFR][1000 genomes]
rs73717535	1.00[AFR][1000 genomes]
rs73717543	0.87[AFR][1000 genomes]
rs73717948	1.00[AMR][1000 genomes]
rs73717949	1.00[AMR][1000 genomes]
rs73717950	1.00[AMR][1000 genomes]
rs73717953	1.00[AMR][1000 genomes]
rs73717954	1.00[AMR][1000 genomes]
rs7784460	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111847400-111861800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:111847600-111851200	Weak transcription	Ovary	ovary
3	chr7:111847600-111851200	Weak transcription	Right Ventricle	heart
4	chr7:111847600-111851200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:111847600-111851400	Weak transcription	Pancreas	Pancrea
6	chr7:111847600-111851400	Weak transcription	Psoas Muscle	Psoas
7	chr7:111847600-111851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:111847600-111851400	Weak transcription	HSMMtube	muscle
9	chr7:111847600-111852400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:111847600-111852800	Weak transcription	Left Ventricle	heart
11	chr7:111847600-111854400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:111847600-111855200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:111847600-111855400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:111847600-111857800	Weak transcription	Placenta	Placenta
15	chr7:111847600-111861000	Weak transcription	Lung	lung
16	chr7:111847600-111863400	Weak transcription	Gastric	stomach
17	chr7:111847600-111864600	Weak transcription	Colonic Mucosa	Colon
18	chr7:111847600-111866200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:111847600-111878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:111847800-111851200	Weak transcription	Fetal Intestine Small	intestine
21	chr7:111847800-111851200	Weak transcription	Stomach Mucosa	stomach
22	chr7:111847800-111851200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:111847800-111851200	Weak transcription	NHLF	lung
24	chr7:111847800-111851400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:111847800-111851400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:111847800-111851400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:111847800-111851400	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:111847800-111851400	Weak transcription	Osteobl	bone
29	chr7:111847800-111851600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:111847800-111851600	Weak transcription	Fetal Kidney	kidney
31	chr7:111847800-111851800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:111847800-111855400	Weak transcription	Brain Anterior Caudate	brain
33	chr7:111847800-111855400	Weak transcription	Right Atrium	heart
34	chr7:111847800-111865000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:111847800-111865600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr7:111847800-111866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:111847800-111869800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr7:111848000-111851200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:111848000-111851200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:111848000-111851200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:111848000-111851200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:111848000-111851200	Weak transcription	Fetal Lung	lung
43	chr7:111848000-111851400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:111848000-111851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:111848000-111851400	Weak transcription	Small Intestine	intestine
46	chr7:111848000-111851400	Weak transcription	NHDF-Ad	bronchial
47	chr7:111848000-111851600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:111848000-111851800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:111848000-111852400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:111848000-111852600	Weak transcription	K562	blood

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