Variant report

Variant	rs10897464
Chromosome Location	chr11:63718663-63718664
allele	A/G
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	MAFK	chr11:63718498-63718730	HepG2	liver:	n/a	chr11:63718637-63718651
2	ZNF384	chr11:63718647-63718874	GM12878	blood:	n/a	n/a
3	EBF1	chr11:63718473-63718864	GM12878	blood:	n/a	chr11:63718672-63718683 chr11:63718672-63718685 chr11:63718674-63718684
4	CUX1	chr11:63718506-63718699	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NAA40	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10751004	0.93[EUR][1000 genomes]
rs10792424	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10897466	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10897468	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11231646	0.85[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11231653	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11231655	0.82[EUR][1000 genomes]
rs11601228	0.92[EUR][1000 genomes]
rs11602912	0.86[AFR][1000 genomes]
rs11607028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417507	0.83[EUR][1000 genomes]
rs12421757	0.83[EUR][1000 genomes]
rs12790749	0.92[EUR][1000 genomes]
rs12797540	0.83[EUR][1000 genomes]
rs12798491	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12808604	0.92[EUR][1000 genomes]
rs1386346	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1684950	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1783964	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2318110	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2508584	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3019782	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320121	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35492216	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3740637	0.83[EUR][1000 genomes]
rs4426138	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs480211	0.94[CHB][hapmap]
rs481835	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs483340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs487540	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs488082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4980499	0.83[EUR][1000 genomes]
rs4980500	0.83[EUR][1000 genomes]
rs4980509	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4980512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980516	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499118	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs500493	0.85[CEU][hapmap];0.95[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs502858	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs504314	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs528927	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs529915	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs539432	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs540389	0.94[CHB][hapmap]
rs553724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs562865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs567386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs578295	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6591830	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs709594	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7111130	0.85[EUR][1000 genomes]
rs7112348	0.81[EUR][1000 genomes]
rs728919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928990	0.91[EUR][1000 genomes]
rs7938498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7942318	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7951529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943682	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
4	chr11:63707600-63719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:63707800-63719200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:63707800-63719600	Weak transcription	Lung	lung
8	chr11:63708200-63723400	Weak transcription	NH-A	brain
9	chr11:63709000-63719200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:63709400-63718800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:63709600-63719600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:63713200-63719800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:63713200-63719800	Weak transcription	Aorta	Aorta
14	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
15	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:63713400-63719400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:63713400-63719600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:63713400-63719600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:63713400-63719800	Weak transcription	Brain Substantia Nigra	brain
20	chr11:63713400-63721200	Weak transcription	Stomach Mucosa	stomach
21	chr11:63713400-63721600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:63713400-63721600	Weak transcription	Ovary	ovary
23	chr11:63713400-63724200	Strong transcription	K562	blood
24	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
25	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
28	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
29	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
30	chr11:63713600-63719600	Weak transcription	Colonic Mucosa	Colon
31	chr11:63713600-63719600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:63713600-63719800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:63713600-63719800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:63713600-63719800	Weak transcription	HSMM	muscle
35	chr11:63713600-63723000	Weak transcription	Fetal Heart	heart
36	chr11:63713600-63724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:63713600-63724200	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:63713800-63719400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr11:63714200-63719600	Weak transcription	Right Ventricle	heart
46	chr11:63714400-63719000	Weak transcription	Fetal Lung	lung
47	chr11:63714400-63719800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:63714400-63720000	Weak transcription	NHDF-Ad	bronchial
49	chr11:63714600-63718800	Weak transcription	NHEK	skin
50	chr11:63714600-63719000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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