Variant report

Variant	rs72724472
Chromosome Location	chr8:131401367-131401368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr8:131401245-131401774	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr8:131401299-131401941	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr8:131401230-131401936	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr8:131401075-131401801	SK-N-SH	brain:	n/a	n/a
5	NFYA	chr8:131401234-131401434	Hela-S3	cervix:	n/a	n/a
6	YY1	chr8:131401356-131401828	SK-N-SH_RA	brain:	n/a	chr8:131401584-131401592 chr8:131401615-131401627 chr8:131401578-131401597 chr8:131401583-131401595
7	YY1	chr8:131401341-131401666	A549	lung:	n/a	chr8:131401584-131401592 chr8:131401615-131401627 chr8:131401578-131401597 chr8:131401583-131401595

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:131401332-131401382	NB4	blood:	n/a
2	chr8:131401332-131401382	Jurkat	blood:	n/a
3	chr8:131401332-131401382	SAEC	small airway:	n/a
4	chr8:131401332-131401382	MCF-7	breast:	n/a
5	chr8:131401332-131401382	AoSMC	blood vessel:	n/a
6	chr8:131401332-131401382	HUVEC	blood vessel:	n/a
7	chr8:131401332-131401382	T-47D	breast:	n/a
8	chr8:131401332-131401382	HNPCEpiC	eye:	n/a
9	chr8:131401332-131401382	BE2_C	brain:	n/a
10	chr8:131401332-131401382	SK-N-MC	brain:	n/a
11	chr8:131401332-131401382	AG10803	skin:	n/a
12	chr8:131401332-131401382	HEEpiC	esophagus:	n/a
13	chr8:131401332-131401382	HEK293	kidney:	embryo
14	chr8:131401332-131401382	HMEC	breast:	n/a
15	chr8:131401332-131401382	U87	brain:	n/a
16	chr8:131401332-131401382	AG09319	gingival:	n/a
17	chr8:131401332-131401382	SK-N-SH	brain:	n/a
18	chr8:131401332-131401382	HCPEpiC	choroid plexus:	n/a
19	chr8:131401332-131401382	HRE	kidney:	n/a
20	chr8:131401332-131401382	SK-N-SH_RA	brain:	n/a
21	chr8:131401332-131401382	Hepatocyte	liver:	n/a
22	chr8:131401332-131401382	Hela-S3	cervix:	n/a
23	chr8:131401332-131401382	SKMC	muscle:	n/a
24	chr8:131401332-131401382	A549	lung:	n/a
25	chr8:131401332-131401382	NH-A	brain:	n/a
26	chr8:131401332-131401382	BJ	skin:	n/a
27	chr8:131401332-131401382	Caco-2	colon:	n/a
28	chr8:131401332-131401382	K562	blood:	n/a
29	chr8:131401332-131401382	HRCEpiC	kidney:	n/a
30	chr8:131401332-131401382	GM12878	blood:	n/a
31	chr8:131401332-131401382	LNCaP	prostate:	n/a
32	chr8:131401332-131401382	ProgFib	skin:	n/a
33	chr8:131401332-131401382	HIPEpiC	eye:	n/a
34	chr8:131401332-131401382	GM06990	blood:	n/a
35	chr8:131401332-131401382	HRPEpiC	eye:	n/a
36	chr8:131401332-131401382	HCF	heart:	n/a
37	chr8:131401332-131401382	HL-60	blood:	n/a
38	chr8:131401332-131401382	HepG2	liver:	n/a
39	chr8:131401332-131401382	RPTEC	kidney:	n/a
40	chr8:131401332-131401382	HCT-116	colon:	n/a
41	chr8:131401332-131401382	PrEC	prostate:	n/a
42	chr8:131401332-131401382	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:131401332-131401382	AG04450	lung:	fetal
44	chr8:131401332-131401382	NHBE	bronchial:	n/a
45	chr8:131401332-131401382	AG09309	skin:	n/a
46	chr8:131401332-131401382	PFSK-1	brain:	n/a
47	chr8:131401332-131401382	NT2-D1	testis:	n/a
48	chr8:131401332-131401382	GM12892	blood:	n/a
49	chr8:131401332-131401382	GM12891	blood:	n/a
50	chr8:131401332-131401382	PANC-1	pancreas:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:

No data

Variant related genes	Relation type
ASAP1	TF binding region
ASAP1	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11776262	0.80[EUR][1000 genomes]
rs11779293	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781211	0.80[EUR][1000 genomes]
rs11784842	0.80[EUR][1000 genomes]
rs11784988	0.80[EUR][1000 genomes]
rs34179841	0.96[ASN][1000 genomes]
rs34180756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34438161	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34492373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34721219	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35009497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35104220	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35220844	0.96[ASN][1000 genomes]
rs35305115	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35865490	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57315235	0.80[EUR][1000 genomes]
rs60744896	1.00[ASN][1000 genomes]
rs72724475	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724476	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724478	1.00[ASN][1000 genomes]
rs72724483	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724485	0.96[ASN][1000 genomes]
rs72724488	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724490	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS 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 target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
3	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
5	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
6	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
8	chr8:131388600-131407200	Weak transcription	HSMM	muscle
9	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
11	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:131390800-131401400	Weak transcription	Liver	Liver
13	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:131392400-131407600	Weak transcription	HSMMtube	muscle
15	chr8:131394200-131408800	Weak transcription	NH-A	brain
16	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
17	chr8:131396200-131408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:131396800-131408400	Weak transcription	Fetal Heart	heart
19	chr8:131397200-131407400	Weak transcription	Spleen	Spleen
20	chr8:131397400-131407200	Weak transcription	Ovary	ovary
21	chr8:131398200-131408400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:131398200-131413600	Weak transcription	Fetal Intestine Small	intestine
23	chr8:131398600-131408200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:131398800-131408800	Weak transcription	Right Ventricle	heart
25	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
26	chr8:131399000-131404800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:131399000-131407000	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:131399200-131403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131399200-131404800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:131399200-131404800	Weak transcription	HepG2	liver
31	chr8:131399200-131405400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:131399200-131407000	Weak transcription	Fetal Stomach	stomach
33	chr8:131399200-131407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:131399200-131407200	Weak transcription	Left Ventricle	heart
35	chr8:131399200-131408800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:131399200-131408800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:131399400-131408600	Weak transcription	Fetal Lung	lung
38	chr8:131399400-131409600	Weak transcription	HMEC	breast
39	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:131399600-131402800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:131399600-131404800	Weak transcription	NHLF	lung
42	chr8:131399600-131407000	Weak transcription	Lung	lung
43	chr8:131400000-131403200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:131400200-131401600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:131400200-131402200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:131400200-131402400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:131400200-131403000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:131400400-131401600	Strong transcription	NHEK	skin
49	chr8:131400400-131401800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:131400400-131402200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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