Variant report

Variant	rs72720361
Chromosome Location	chr8:131022470-131022471
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:131022380-131022530	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:131014946..131017483-chr8:131021202..131023488,4	MCF-7	breast:
2	chr8:131021262..131023800-chr8:131023935..131026265,2	MCF-7	breast:
3	chr8:131020889..131022923-chr8:131027315..131029052,2	MCF-7	breast:
4	chr8:131019270..131022496-chr8:131027575..131029857,4	MCF-7	breast:

Variant related genes	Relation type
MIR5194	TF binding region
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]
rs72720362	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	chr8:131010200-131022600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:131011000-131027600	Weak transcription	Stomach Mucosa	stomach
7	chr8:131011600-131026800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:131012200-131026000	Weak transcription	Fetal Brain Female	brain
9	chr8:131012400-131024600	Weak transcription	Left Ventricle	heart
10	chr8:131012400-131027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:131012400-131027000	Weak transcription	Esophagus	oesophagus
12	chr8:131012600-131024800	Weak transcription	Fetal Heart	heart
13	chr8:131012600-131027200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:131012600-131027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:131012600-131027800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:131012800-131026800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:131012800-131026800	Weak transcription	NH-A	brain
18	chr8:131013400-131026000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:131015000-131023400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
20	chr8:131016000-131027400	Weak transcription	Gastric	stomach
21	chr8:131017600-131022600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:131018000-131022600	Weak transcription	Right Ventricle	heart
23	chr8:131018000-131027000	Weak transcription	Pancreas	Pancrea
24	chr8:131018200-131027000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:131018400-131027200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:131018600-131027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:131019000-131023200	Enhancers	Brain Substantia Nigra	brain
28	chr8:131019000-131026000	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr8:131019600-131022600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:131020400-131022600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:131020400-131023200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:131020600-131023000	Strong transcription	HMEC	breast
33	chr8:131020600-131023200	Enhancers	Brain Cingulate Gyrus	brain
34	chr8:131020600-131023200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:131020600-131023200	Strong transcription	Thymus	Thymus
36	chr8:131020600-131023200	Strong transcription	NHEK	skin
37	chr8:131020600-131023400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr8:131020600-131023400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:131020600-131023400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:131020600-131023400	Enhancers	Brain Anterior Caudate	brain
41	chr8:131020600-131023400	ZNF genes & repeats	Fetal Thymus	thymus
42	chr8:131020800-131022600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:131020800-131022600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:131020800-131022600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:131020800-131023400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:131020800-131027200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:131021000-131022600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:131021000-131022600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:131021000-131023600	ZNF genes & repeats	A549	lung
50	chr8:131021200-131022600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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