Variant report

Variant	rs72720362
Chromosome Location	chr8:131023404-131023405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131014946..131017483-chr8:131021202..131023488,4	MCF-7	breast:
2	chr8:131022542..131024332-chr8:131027331..131030262,2	MCF-7	breast:
3	chr8:131021262..131023800-chr8:131023935..131026265,2	MCF-7	breast:
4	chr8:131023287..131025131-chr8:131027494..131029690,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253043	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1349847	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28520393	1.00[ASN][1000 genomes]
rs55878330	1.00[ASN][1000 genomes]
rs66523355	1.00[ASN][1000 genomes]
rs7016402	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	1.00[ASN][1000 genomes]
rs72720337	1.00[ASN][1000 genomes]
rs72720345	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720346	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720350	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720351	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720353	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720360	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720361	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720365	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131009400-131026200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:131010000-131026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:131010000-131027000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:131010000-131027000	Weak transcription	Small Intestine	intestine
5	chr8:131011000-131027600	Weak transcription	Stomach Mucosa	stomach
6	chr8:131011600-131026800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:131012200-131026000	Weak transcription	Fetal Brain Female	brain
8	chr8:131012400-131024600	Weak transcription	Left Ventricle	heart
9	chr8:131012400-131027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:131012400-131027000	Weak transcription	Esophagus	oesophagus
11	chr8:131012600-131024800	Weak transcription	Fetal Heart	heart
12	chr8:131012600-131027200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:131012600-131027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:131012600-131027800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:131012800-131026800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:131012800-131026800	Weak transcription	NH-A	brain
17	chr8:131013400-131026000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:131016000-131027400	Weak transcription	Gastric	stomach
19	chr8:131018000-131027000	Weak transcription	Pancreas	Pancrea
20	chr8:131018200-131027000	Weak transcription	Fetal Intestine Large	intestine
21	chr8:131018400-131027200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:131018600-131027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:131019000-131026000	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr8:131020800-131027200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:131021000-131023600	ZNF genes & repeats	A549	lung
26	chr8:131021200-131026800	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr8:131021200-131027200	Weak transcription	Psoas Muscle	Psoas
28	chr8:131021400-131024400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:131021400-131027000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:131021400-131027000	Weak transcription	HSMMtube	muscle
31	chr8:131021800-131023600	Genic enhancers	Spleen	Spleen
32	chr8:131022000-131023600	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:131022000-131026000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:131022200-131023800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr8:131022200-131023800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:131022200-131025400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:131022200-131026000	Weak transcription	Placenta	Placenta
38	chr8:131022200-131026200	Genic enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:131022200-131026200	Weak transcription	Colonic Mucosa	Colon
40	chr8:131022200-131027000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:131022200-131027000	Weak transcription	Dnd41	blood
42	chr8:131022200-131028000	Weak transcription	Ovary	ovary
43	chr8:131022400-131023600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:131022400-131025600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:131022400-131027400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:131022600-131025400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:131022600-131025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:131022600-131026800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr8:131022800-131024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:131022800-131027000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links