Variant report

Variant	rs11732394
Chromosome Location	chr4:57846925-57846926
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	CEBPB	chr4:57846872-57847099	K562	blood:	n/a	chr4:57847026-57847037
2	ZNF384	chr4:57846814-57847165	K562	blood:	n/a	n/a
3	CEBPB	chr4:57846923-57847093	HepG2	liver:	n/a	chr4:57847026-57847037
4	CEBPB	chr4:57846862-57847142	MCF-7	breast:	n/a	chr4:57847026-57847037
5	CEBPB	chr4:57846817-57847211	K562	blood:	n/a	chr4:57847026-57847037
6	CEBPB	chr4:57846791-57847167	K562	blood:	n/a	chr4:57847026-57847037
7	RCOR1	chr4:57846853-57847185	K562	blood:	n/a	n/a
8	POLR2A	chr4:57846713-57847061	K562	blood:	n/a	n/a
9	POLR2A	chr4:57846601-57847159	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:
2	chr4:57845155..57847188-chr4:57856587..57858696,2	MCF-7	breast:
3	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:

Variant related genes	Relation type
NOA1	TF binding region
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10016108	1.00[CHB][hapmap]
rs11133472	1.00[CHB][hapmap]
rs11573041	1.00[CHB][hapmap]
rs11573128	1.00[CHB][hapmap]
rs13113032	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123018	0.85[ASN][1000 genomes]
rs13125082	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs13128671	0.85[ASN][1000 genomes]
rs13130604	0.85[ASN][1000 genomes]
rs13146090	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13146153	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs13152711	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618761	1.00[CHB][hapmap]
rs17087358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17183291	1.00[CHB][hapmap]
rs1718846	1.00[CHB][hapmap]
rs1718848	1.00[CHB][hapmap]
rs34855462	0.85[EUR][1000 genomes]
rs34948796	0.85[EUR][1000 genomes]
rs35185186	0.85[ASN][1000 genomes]
rs4109037	1.00[CHB][hapmap]
rs41495551	0.86[CEU][hapmap];1.00[CHB][hapmap]
rs4865166	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865176	1.00[CHB][hapmap]
rs4865177	1.00[CHB][hapmap]
rs62310292	1.00[ASN][1000 genomes]
rs62310298	0.85[EUR][1000 genomes]
rs66619445	0.85[ASN][1000 genomes]
rs67541678	0.85[EUR][1000 genomes]
rs7656865	1.00[CHB][hapmap]
rs7661194	0.91[CEU][hapmap]
rs7685791	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9055	0.91[CEU][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11732394	RP11-738E22.3	cis	Thyroid	GTEx
rs11732394	RP11-738E22.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57842000-57847000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr4:57842000-57847000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:57842000-57847000	Active TSS	A549	lung
4	chr4:57845600-57847000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr4:57845800-57847000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:57845800-57847000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:57846000-57847000	Flanking Active TSS	Fetal Brain Female	brain
8	chr4:57846000-57847000	Flanking Active TSS	Dnd41	blood
9	chr4:57846000-57847400	Enhancers	Stomach Mucosa	stomach
10	chr4:57846000-57848000	Enhancers	Brain Substantia Nigra	brain
11	chr4:57846000-57848400	Weak transcription	Gastric	stomach
12	chr4:57846000-57849400	Enhancers	Brain Angular Gyrus	brain
13	chr4:57846000-57852000	Weak transcription	Aorta	Aorta
14	chr4:57846000-57853600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:57846000-57855600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:57846000-57881000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:57846200-57847000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:57846200-57847000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:57846200-57847000	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:57846200-57847000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:57846200-57847000	Enhancers	Placenta	Placenta
22	chr4:57846200-57847000	Flanking Active TSS	HMEC	breast
23	chr4:57846200-57847000	Flanking Active TSS	NHEK	skin
24	chr4:57846200-57847200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr4:57846200-57847200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:57846200-57847200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:57846200-57847200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr4:57846200-57847400	Enhancers	Primary B cells from peripheral blood	blood
29	chr4:57846200-57847400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:57846200-57847400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:57846200-57847600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:57846200-57847600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr4:57846200-57847600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr4:57846200-57847600	Enhancers	Fetal Muscle Trunk	muscle
35	chr4:57846200-57847800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:57846200-57848400	Enhancers	Liver	Liver
37	chr4:57846200-57848400	Enhancers	Fetal Brain Male	brain
38	chr4:57846200-57848400	Enhancers	Fetal Lung	lung
39	chr4:57846200-57849000	Flanking Active TSS	HUVEC	blood vessel
40	chr4:57846200-57849400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr4:57846200-57850800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:57846200-57851400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:57846200-57851800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:57846200-57851800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:57846200-57851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:57846200-57853000	Weak transcription	Fetal Kidney	kidney
47	chr4:57846200-57853600	Weak transcription	Esophagus	oesophagus
48	chr4:57846200-57861600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:57846200-57861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:57846400-57847000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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