Variant report

Variant	rs13265193
Chromosome Location	chr8:91012629-91012630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
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	SIN3AK20	chr8:91012321-91014764	MCF-7	breast:	n/a	n/a
2	CTCF	chr8:91012578-91014011	A549	lung:	n/a	chr8:91013537-91013550 chr8:91013685-91013701
3	GATA3	chr8:91012600-91014378	MCF-7	breast:	n/a	n/a
4	MXI1	chr8:91012391-91014935	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:91012545-91014433	MCF-7	breast:	n/a	n/a
6	SRF	chr8:91012147-91012674	ECC-1	luminal epithelium:	n/a	n/a
7	GATA1	chr8:91012561-91013882	PBDE	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91011585..91013133-chr8:91244828..91247817,2	K562	blood:
2	chr8:91012176..91015175-chr8:91997197..91999133,2	K562	blood:
3	chr8:90914773..90916966-chr8:91010499..91012742,2	K562	blood:
4	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
5	chr8:91009932..91012698-chr8:91017026..91019725,2	K562	blood:
6	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
7	chr8:91012457..91016466-chr8:91233540..91237741,4	K562	blood:
8	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
9	chr8:90996289..90998136-chr8:91010778..91015164,5	K562	blood:
10	chr8:90914281..90916675-chr8:91011002..91013854,2	MCF-7	breast:
11	chr8:91012528..91015432-chr8:91026705..91029174,2	MCF-7	breast:
12	chr8:91011649..91013429-chr8:91657452..91659731,3	MCF-7	breast:

No data

Variant related genes	Relation type
DECR1	TF binding region
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000253394	Chromatin interaction
ENSG00000246792	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10092098	0.90[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10104321	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1011682	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs1011683	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1061302	0.90[CEU][hapmap]
rs1063045	0.90[CEU][hapmap]
rs1063053	0.85[JPT][hapmap]
rs1063054	0.91[JPT][hapmap]
rs10755930	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956375	0.91[CEU][hapmap]
rs10956431	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11778638	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782032	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs11784904	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12549107	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12679577	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13264478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13275276	0.91[CEU][hapmap]
rs13278453	0.91[CEU][hapmap]
rs13312935	0.91[CEU][hapmap]
rs1800645	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805790	0.91[CEU][hapmap]
rs1805791	0.80[EUR][1000 genomes]
rs1805792	0.82[EUR][1000 genomes]
rs1805794	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs1805795	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs1805797	0.90[CEU][hapmap]
rs1805799	0.90[CEU][hapmap]
rs1805800	0.91[CEU][hapmap]
rs1805803	0.81[EUR][1000 genomes]
rs1805804	0.82[EUR][1000 genomes]
rs1805808	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs1805818	0.90[CEU][hapmap]
rs1805844	0.91[CEU][hapmap]
rs1805865	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805870	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1805876	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805877	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1881467	0.90[JPT][hapmap]
rs1881468	0.91[JPT][hapmap]
rs2021881	0.90[JPT][hapmap]
rs2021882	0.91[JPT][hapmap]
rs2072656	0.88[EUR][1000 genomes]
rs2073635	0.90[CEU][hapmap]
rs2074593	0.89[EUR][1000 genomes]
rs2074596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2091887	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2091888	0.81[ASN][1000 genomes]
rs2097825	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs2107465	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142093	0.81[CEU][hapmap]
rs2142094	0.81[CEU][hapmap]
rs2142097	0.91[JPT][hapmap]
rs2234744	0.90[CEU][hapmap]
rs2246022	0.91[JPT][hapmap]
rs2267543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2280780	0.91[CEU][hapmap]
rs2308962	0.90[CEU][hapmap]
rs2339025	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2697676	0.91[JPT][hapmap]
rs2735383	0.90[JPT][hapmap]
rs2735384	0.86[JPT][hapmap]
rs2735385	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2735386	0.91[JPT][hapmap]
rs2735387	0.86[JPT][hapmap]
rs2735388	0.86[JPT][hapmap]
rs3026276	0.82[EUR][1000 genomes]
rs34394839	0.89[EUR][1000 genomes]
rs35696408	0.80[ASN][1000 genomes]
rs3736639	0.91[CEU][hapmap]
rs4961166	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs4961167	0.89[EUR][1000 genomes]
rs61427172	0.82[EUR][1000 genomes]
rs6470523	0.91[CEU][hapmap]
rs6470524	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs6470668	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470671	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6470713	0.90[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67277238	0.80[ASN][1000 genomes]
rs6987873	0.91[CEU][hapmap]
rs6988013	0.85[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6990969	0.91[CEU][hapmap]
rs6991811	0.91[CEU][hapmap]
rs6993054	0.86[CEU][hapmap];0.88[EUR][1000 genomes]
rs6994202	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6999227	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7006322	0.91[CEU][hapmap]
rs7011299	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs7012846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7018118	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs71528733	0.82[EUR][1000 genomes]
rs71528739	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72671845	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741777	0.91[CEU][hapmap]
rs741778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7459577	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7459846	0.81[CEU][hapmap]
rs7461859	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463278	0.90[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7463645	0.82[EUR][1000 genomes]
rs7463923	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7815279	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7816839	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821408	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822272	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs7822950	0.89[EUR][1000 genomes]
rs7829246	0.91[CEU][hapmap]
rs7832009	0.82[EUR][1000 genomes]
rs926092	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs9297784	0.85[ASN][1000 genomes]
rs9649958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9650096	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9792335	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs9995	0.90[JPT][hapmap]

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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13265193	NBN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91006000-91012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:91007600-91013200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91008000-91012800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:91008200-91012800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:91010000-91013200	Weak transcription	Left Ventricle	heart
6	chr8:91011600-91013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:91012000-91012800	Enhancers	Fetal Heart	heart
8	chr8:91012200-91012800	Enhancers	K562	blood
9	chr8:91012200-91013000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:91012200-91013000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:91012200-91013000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:91012200-91013000	Enhancers	NHDF-Ad	bronchial
13	chr8:91012200-91013200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:91012200-91013200	Enhancers	HUVEC	blood vessel
15	chr8:91012400-91012800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:91012400-91012800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:91012400-91012800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:91012400-91012800	Enhancers	Adipose Nuclei	Adipose
19	chr8:91012400-91012800	Enhancers	Brain Hippocampus Middle	brain
20	chr8:91012400-91012800	Enhancers	Colon Smooth Muscle	Colon
21	chr8:91012400-91012800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr8:91012400-91012800	Enhancers	Fetal Kidney	kidney
23	chr8:91012400-91012800	Enhancers	Rectal Smooth Muscle	rectum
24	chr8:91012400-91012800	Enhancers	Stomach Smooth Muscle	stomach
25	chr8:91012400-91012800	Enhancers	GM12878-XiMat	blood
26	chr8:91012400-91012800	Enhancers	HepG2	liver
27	chr8:91012400-91013000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr8:91012400-91013000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:91012400-91013000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:91012400-91013000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:91012400-91013000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:91012400-91013000	Enhancers	Brain Substantia Nigra	brain
33	chr8:91012400-91013000	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:91012400-91013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:91012400-91013000	Enhancers	Fetal Intestine Small	intestine
36	chr8:91012400-91013000	Enhancers	Fetal Lung	lung
37	chr8:91012400-91013000	Enhancers	Fetal Muscle Leg	muscle
38	chr8:91012400-91013000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr8:91012400-91013000	Enhancers	Stomach Mucosa	stomach
40	chr8:91012400-91013000	Enhancers	Dnd41	blood
41	chr8:91012400-91013000	Enhancers	HMEC	breast
42	chr8:91012400-91013000	Enhancers	HSMM	muscle
43	chr8:91012400-91013000	Enhancers	HSMMtube	muscle
44	chr8:91012400-91013000	Enhancers	NH-A	brain
45	chr8:91012400-91013000	Enhancers	Osteobl	bone
46	chr8:91012400-91013200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:91012400-91013200	Enhancers	Fetal Stomach	stomach
48	chr8:91012400-91013200	Enhancers	Fetal Thymus	thymus
49	chr8:91012600-91012800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:91012600-91012800	Enhancers	Primary B cells from cord blood	blood

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