Variant report

Variant	rs73195091
Chromosome Location	chr7:112528118-112528119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112527194..112530016-chr7:112533635..112536349,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs28718671	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59695601	0.90[EUR][1000 genomes]
rs73195081	0.82[EUR][1000 genomes]
rs73195084	0.90[EUR][1000 genomes]
rs73195102	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73196904	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73196909	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73196912	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73196915	0.90[EUR][1000 genomes]
rs7781785	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7794808	1.00[AMR][1000 genomes];0.82[EUR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112468600-112550000	Weak transcription	Aorta	Aorta
2	chr7:112469800-112529000	Weak transcription	Brain Anterior Caudate	brain
3	chr7:112470800-112533200	Weak transcription	HSMM	muscle
4	chr7:112471800-112545200	Weak transcription	Ovary	ovary
5	chr7:112472600-112533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:112490800-112533000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:112494200-112532400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:112496200-112533400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:112506800-112533000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:112507400-112556800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:112507800-112529800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:112509400-112532400	Weak transcription	Dnd41	blood
13	chr7:112512800-112533400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:112513800-112533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:112515200-112534000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:112515400-112533000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:112515400-112533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:112515400-112551000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:112516000-112533000	Weak transcription	Fetal Kidney	kidney
20	chr7:112516000-112533200	Weak transcription	Fetal Brain Male	brain
21	chr7:112516000-112537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:112516400-112529600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:112516400-112551000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:112517200-112529800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:112517800-112529400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:112518000-112529800	Weak transcription	Placenta	Placenta
27	chr7:112518000-112533000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:112518000-112533400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:112518000-112534200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:112518800-112533000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:112519000-112532800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:112519000-112557400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:112519200-112532200	Weak transcription	Fetal Lung	lung
34	chr7:112519400-112533400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:112520200-112533200	Weak transcription	Osteobl	bone
36	chr7:112520400-112529800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:112521400-112529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:112521400-112533000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:112521400-112534600	Weak transcription	Esophagus	oesophagus
40	chr7:112521600-112533000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:112521600-112535600	Weak transcription	HSMMtube	muscle
42	chr7:112522200-112529800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:112522200-112533200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
45	chr7:112522400-112529800	Weak transcription	Left Ventricle	heart
46	chr7:112522400-112529800	Weak transcription	Right Ventricle	heart
47	chr7:112522400-112532000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:112522400-112532400	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:112522400-112532800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:112522400-112533200	Weak transcription	Pancreas	Pancrea

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