Variant report

Variant	rs73694332
Chromosome Location	chr7:48130663-48130664
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	chr7:48017568..48020341-chr7:48128356..48131105,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17132068	1.00[EUR][1000 genomes]
rs17132076	1.00[EUR][1000 genomes]
rs17151150	1.00[EUR][1000 genomes]
rs73694323	1.00[EUR][1000 genomes]
rs73694326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73694327	1.00[EUR][1000 genomes]
rs73694328	1.00[EUR][1000 genomes]
rs7458926	1.00[EUR][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	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
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv997355	chr7:48128431-48138826	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48128000-48131200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:48129000-48137000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:48129400-48131200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:48129600-48131600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
5	chr7:48129600-48134600	Weak transcription	Aorta	Aorta
6	chr7:48129600-48136200	Transcr. at gene 5' and 3'	NHEK	skin
7	chr7:48129600-48141000	Weak transcription	Gastric	stomach
8	chr7:48129600-48141200	Weak transcription	Ovary	ovary
9	chr7:48129800-48131600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
10	chr7:48130000-48130800	Enhancers	Spleen	Spleen
11	chr7:48130000-48131000	Weak transcription	Colonic Mucosa	Colon
12	chr7:48130000-48131000	Weak transcription	Left Ventricle	heart
13	chr7:48130000-48131200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:48130000-48131400	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr7:48130000-48131400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
16	chr7:48130000-48131400	Weak transcription	NHDF-Ad	bronchial
17	chr7:48130000-48131800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:48130000-48132000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:48130000-48132000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:48130000-48132200	Transcr. at gene 5' and 3'	HMEC	breast
21	chr7:48130000-48134000	Weak transcription	HSMMtube	muscle
22	chr7:48130000-48135600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr7:48130200-48131000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:48130200-48131000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:48130200-48131000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:48130200-48131000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:48130200-48131000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:48130200-48131000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:48130200-48131000	Weak transcription	Small Intestine	intestine
30	chr7:48130200-48131000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:48130200-48131200	Weak transcription	Lung	lung
32	chr7:48130200-48131600	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:48130200-48131600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
34	chr7:48130200-48131600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:48130200-48131600	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:48130200-48131800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:48130200-48132600	Weak transcription	Right Ventricle	heart
38	chr7:48130200-48132800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr7:48130200-48133000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:48130200-48133200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:48130200-48133200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr7:48130200-48134000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:48130200-48134000	Weak transcription	HSMM	muscle
44	chr7:48130200-48134200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:48130200-48134200	Weak transcription	Stomach Mucosa	stomach
46	chr7:48130200-48134600	Weak transcription	Fetal Heart	heart
47	chr7:48130200-48135600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:48130200-48138200	Weak transcription	Pancreas	Pancrea
49	chr7:48130200-48141400	Weak transcription	Brain Substantia Nigra	brain
50	chr7:48130200-48146800	Weak transcription	Colon Smooth Muscle	Colon

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