Variant report

Variant	rs12783947
Chromosome Location	chr10:96991116-96991117
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr10:96989475-96991124	H1-hESC	embryonic stem cell:	n/a	chr10:96989651-96989659 chr10:96989649-96989661
2	CTBP2	chr10:96989856-96991124	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr10:96989981-96991587	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr10:96989084-96991483	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr10:96990536-96991328	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr10:96990105-96991118	GM19193	blood:	n/a	n/a
7	POLR2A	chr10:96990320-96991132	MCF-7	breast:	n/a	n/a
8	TEAD4	chr10:96989851-96991357	H1-hESC	embryonic stem cell:	n/a	n/a
9	NANOG	chr10:96990742-96991232	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr10:96989820-96991196	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:96991092-96991761	H1-hESC	embryonic stem cell:	n/a	n/a
12	TBP	chr10:96988973-96991592	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr10:96989916-96991410	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:96991094-96991464	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:96990442-96991122	MCF-7	breast:	n/a	n/a
16	POLR2A	chr10:96990482-96991159	GM12892	blood:	n/a	n/a
17	ATF2	chr10:96989170-96991319	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr10:96989546-96991135	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:96990687-96991829	K562	blood:	n/a	n/a
20	POLR2A	chr10:96988854-96991765	H1-hESC	embryonic stem cell:	n/a	n/a
21	PML	chr10:96990178-96991121	GM12878	blood:	n/a	chr10:96990280-96990288

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96941976..96944883-chr10:96989765..96992078,3	MCF-7	breast:
2	chr10:96943335..96943883-chr10:96990715..96991433,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234026	TF binding region
ENSG00000225533	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10128123	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10509683	0.96[EUR][1000 genomes]
rs10882568	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10882569	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10882570	0.92[ASN][1000 genomes]
rs10882571	0.92[ASN][1000 genomes]
rs11188227	0.96[EUR][1000 genomes]
rs11188228	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11188229	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11188230	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11188236	0.95[ASN][1000 genomes]
rs11188238	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188239	0.92[ASN][1000 genomes]
rs11188240	0.92[ASN][1000 genomes]
rs11596737	0.80[EUR][1000 genomes]
rs11596853	0.80[EUR][1000 genomes]
rs11598953	0.92[ASN][1000 genomes]
rs11598991	0.84[ASN][1000 genomes]
rs11599546	0.92[ASN][1000 genomes]
rs11599884	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11872	0.83[ASN][1000 genomes]
rs12245722	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12262534	0.95[ASN][1000 genomes]
rs12262878	0.96[EUR][1000 genomes]
rs12413028	0.90[EUR][1000 genomes]
rs12415795	0.90[EUR][1000 genomes]
rs12769820	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12784385	0.95[ASN][1000 genomes]
rs17524438	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3210020	0.83[ASN][1000 genomes]
rs35999600	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45510800	0.83[ASN][1000 genomes]
rs45605435	0.83[ASN][1000 genomes]
rs61871367	0.91[EUR][1000 genomes]
rs7909072	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924214	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv21432	chr10:96856006-96996043	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv1834151	chr10:96925446-96992955	Flanking Active TSS 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	5 gene(s)	inside rSNPs	diseases
5	esv15160	chr10:96942869-97074756	Bivalent Enhancer Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96970200-96992400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:96989600-96991200	Active TSS	Brain Angular Gyrus	brain
3	chr10:96989800-96991600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr10:96990000-96991200	Active TSS	Fetal Kidney	kidney
5	chr10:96990000-96991400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:96990000-96991400	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:96990000-96991600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:96990000-96995400	Weak transcription	K562	blood
9	chr10:96990000-96995800	Weak transcription	HepG2	liver
10	chr10:96990200-96991400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr10:96990200-96991600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:96990600-96991800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:96990600-96992400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr10:96990600-96994800	Weak transcription	Hela-S3	cervix
15	chr10:96990800-96991200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr10:96990800-96991600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:96990800-96992200	Weak transcription	HSMMtube	muscle
18	chr10:96990800-96992400	Weak transcription	Aorta	Aorta
19	chr10:96990800-96992400	Weak transcription	NHLF	lung
20	chr10:96990800-96992600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:96990800-96993000	Weak transcription	NHDF-Ad	bronchial
22	chr10:96990800-96993200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:96990800-96994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:96990800-96994800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:96990800-96995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr10:96990800-96997400	Weak transcription	Stomach Mucosa	stomach
27	chr10:96990800-97005200	Weak transcription	Psoas Muscle	Psoas
28	chr10:96991000-96991200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:96991000-96991200	Enhancers	Fetal Thymus	thymus
30	chr10:96991000-96991200	Enhancers	Pancreas	Pancrea
31	chr10:96991000-96991200	Active TSS	Stomach Smooth Muscle	stomach
32	chr10:96991000-96991400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:96991000-96991400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr10:96991000-96991400	Enhancers	Primary B cells from peripheral blood	blood
35	chr10:96991000-96991400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:96991000-96991600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:96991000-96991600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr10:96991000-96991600	Enhancers	GM12878-XiMat	blood
39	chr10:96991000-96992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr10:96991000-96992000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:96991000-96992000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:96991000-96992000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr10:96991000-96992200	Weak transcription	Liver	Liver
44	chr10:96991000-96992200	Weak transcription	HSMM	muscle
45	chr10:96991000-96992200	Weak transcription	NHEK	skin
46	chr10:96991000-96992400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr10:96991000-96992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:96991000-96992400	Weak transcription	Adipose Nuclei	Adipose
49	chr10:96991000-96992400	Weak transcription	Esophagus	oesophagus
50	chr10:96991000-96992400	Weak transcription	Fetal Intestine Small	intestine

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