Variant report

Variant	rs72940095
Chromosome Location	chr3:112290054-112290055
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112289268..112293035-chr3:112358216..112361029,3	MCF-7	breast:
2	chr3:112280777..112282990-chr3:112288928..112291699,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138459	Chromatin interaction
ENSG00000144848	Chromatin interaction
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1094047	1.00[EUR][1000 genomes]
rs1249921	1.00[EUR][1000 genomes]
rs1249923	1.00[EUR][1000 genomes]
rs1249924	1.00[EUR][1000 genomes]
rs1249927	1.00[EUR][1000 genomes]
rs1615696	1.00[EUR][1000 genomes]
rs2633554	1.00[EUR][1000 genomes]
rs2971202	1.00[EUR][1000 genomes]
rs4082839	1.00[EUR][1000 genomes]
rs6790380	1.00[EUR][1000 genomes]
rs6797022	1.00[EUR][1000 genomes]
rs72936224	1.00[EUR][1000 genomes]
rs72936250	1.00[EUR][1000 genomes]
rs72938417	1.00[EUR][1000 genomes]
rs820574	1.00[EUR][1000 genomes]
rs820575	1.00[EUR][1000 genomes]
rs820576	1.00[EUR][1000 genomes]
rs820577	1.00[EUR][1000 genomes]
rs864239	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv591301	chr3:112252532-112332629	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112281800-112290400	Weak transcription	Lung	lung
2	chr3:112281800-112291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:112281800-112299400	Weak transcription	Left Ventricle	heart
4	chr3:112281800-112301600	Weak transcription	HepG2	liver
5	chr3:112281800-112312000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:112281800-112315400	Weak transcription	Pancreas	Pancrea
7	chr3:112281800-112324200	Weak transcription	Spleen	Spleen
8	chr3:112281800-112325400	Weak transcription	Gastric	stomach
9	chr3:112282000-112312200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:112282000-112330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:112282000-112330600	Weak transcription	Esophagus	oesophagus
12	chr3:112282200-112303400	Weak transcription	Psoas Muscle	Psoas
13	chr3:112282400-112290400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:112282400-112290400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:112282400-112291200	Weak transcription	NHLF	lung
16	chr3:112282400-112291800	Weak transcription	Fetal Kidney	kidney
17	chr3:112282400-112299400	Weak transcription	Fetal Stomach	stomach
18	chr3:112282400-112301600	Weak transcription	Hela-S3	cervix
19	chr3:112282400-112304400	Weak transcription	Fetal Heart	heart
20	chr3:112282400-112306600	Weak transcription	Right Ventricle	heart
21	chr3:112282400-112307200	Weak transcription	Small Intestine	intestine
22	chr3:112282400-112312400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:112282400-112316800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:112282400-112322800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:112282400-112324200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:112282400-112340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:112282600-112291800	Weak transcription	NHDF-Ad	bronchial
28	chr3:112282600-112297200	Weak transcription	Thymus	Thymus
29	chr3:112282600-112298200	Weak transcription	NHEK	skin
30	chr3:112282600-112301200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:112282600-112301400	Weak transcription	A549	lung
32	chr3:112282600-112306800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:112282800-112291400	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:112282800-112292600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:112282800-112298600	Weak transcription	Brain Angular Gyrus	brain
36	chr3:112282800-112301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:112282800-112302200	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:112283000-112291200	Strong transcription	Primary B cells from cord blood	blood
39	chr3:112283000-112299200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:112283000-112301800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:112283000-112316400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:112283200-112291400	Weak transcription	Fetal Brain Male	brain
43	chr3:112283600-112291400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr3:112283600-112295800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:112283800-112291400	Strong transcription	Adipose Nuclei	Adipose
46	chr3:112283800-112295400	Strong transcription	Liver	Liver
47	chr3:112284000-112297600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:112284000-112298600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr3:112284200-112293600	Strong transcription	Fetal Thymus	thymus
50	chr3:112284400-112294400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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