Variant report

Variant	rs10992647
Chromosome Location	chr9:95889677-95889678
allele	C/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	HNF4A	chr9:95889137-95889687	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:95889004-95889817	HL-60	blood:	n/a	n/a
3	POLR2A	chr9:95889133-95889825	HepG2	liver:	n/a	n/a
4	CREB1	chr9:95888949-95889702	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:95889008-95889684	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:95888633-95889725	HepG2	liver:	n/a	n/a
7	RCOR1	chr9:95889241-95889811	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95857275..95859572-chr9:95888374..95892185,3	MCF-7	breast:
2	chr9:95889078..95891579-chr9:95915235..95918056,2	MCF-7	breast:
3	chr9:95856977..95859126-chr9:95888088..95890598,2	MCF-7	breast:

Variant related genes	Relation type
NINJ1	TF binding region
ENSG00000165233	Chromatin interaction
ENSG00000223446	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10992646	1.00[ASN][1000 genomes]
rs10992649	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992650	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992651	1.00[ASN][1000 genomes]
rs10992654	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992656	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992657	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10992661	1.00[ASN][1000 genomes]
rs10992699	1.00[ASN][1000 genomes]
rs12000967	1.00[ASN][1000 genomes]
rs12002458	1.00[ASN][1000 genomes]
rs12005950	1.00[ASN][1000 genomes]
rs12006039	1.00[ASN][1000 genomes]
rs12552158	1.00[ASN][1000 genomes]
rs13283550	1.00[ASN][1000 genomes]
rs13289160	1.00[ASN][1000 genomes]
rs1931364	1.00[ASN][1000 genomes]
rs35199621	1.00[ASN][1000 genomes]
rs35566702	1.00[ASN][1000 genomes]
rs36081907	1.00[ASN][1000 genomes]
rs4744213	1.00[ASN][1000 genomes]
rs55981123	1.00[ASN][1000 genomes]
rs6479471	1.00[ASN][1000 genomes]
rs6479474	1.00[ASN][1000 genomes]
rs7023262	1.00[ASN][1000 genomes]
rs7026999	1.00[ASN][1000 genomes]
rs7042943	1.00[ASN][1000 genomes]
rs7848843	1.00[ASN][1000 genomes]
rs7857220	1.00[ASN][1000 genomes]
rs7866300	1.00[ASN][1000 genomes]
rs7867954	1.00[ASN][1000 genomes]
rs7875384	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526296	chr9:95708192-96030392	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1035230	chr9:95770249-95934982	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv893576	chr9:95789960-96158277	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824329	chr9:95811604-95921347	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv893579	chr9:95855100-95923091	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv893580	chr9:95855100-96099377	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv893581	chr9:95872216-95930334	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv614879	chr9:95883363-95897564	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95870000-95895400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:95871000-95894200	Weak transcription	Dnd41	blood
3	chr9:95883000-95894600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:95883000-95895000	Weak transcription	HSMMtube	muscle
5	chr9:95883000-95895000	Weak transcription	K562	blood
6	chr9:95885000-95895400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:95886000-95890600	Enhancers	Fetal Thymus	thymus
8	chr9:95886800-95895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr9:95887200-95891200	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr9:95887400-95890400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:95887400-95890800	Weak transcription	A549	lung
12	chr9:95887400-95891600	Weak transcription	Ovary	ovary
13	chr9:95887400-95893600	Weak transcription	NHLF	lung
14	chr9:95887600-95890800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr9:95887600-95894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr9:95887800-95893400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr9:95887800-95894000	Weak transcription	Brain Germinal Matrix	brain
18	chr9:95888000-95890400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:95888000-95890800	Enhancers	Primary T cells from cord blood	blood
20	chr9:95888000-95890800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:95888000-95891600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:95888200-95890000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:95888200-95890600	Enhancers	Primary hematopoietic stem cells	blood
24	chr9:95888200-95890600	Weak transcription	Brain Angular Gyrus	brain
25	chr9:95888200-95891000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr9:95888200-95892200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr9:95888200-95893400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:95888200-95893400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr9:95888200-95894600	Weak transcription	Osteobl	bone
30	chr9:95888200-95895000	Enhancers	Esophagus	oesophagus
31	chr9:95888400-95890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:95888400-95890400	Enhancers	Brain Hippocampus Middle	brain
33	chr9:95888400-95890400	Genic enhancers	Fetal Intestine Small	intestine
34	chr9:95888400-95891000	Genic enhancers	Liver	Liver
35	chr9:95888400-95894200	Weak transcription	Hela-S3	cervix
36	chr9:95888400-95894800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr9:95888400-95895000	Enhancers	HUVEC	blood vessel
38	chr9:95888600-95889800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:95888600-95889800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr9:95888600-95890000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr9:95888600-95890000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr9:95888600-95890000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:95888600-95890000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:95888600-95890200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr9:95888600-95890400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:95888600-95890400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr9:95888600-95890400	Enhancers	Fetal Lung	lung
48	chr9:95888600-95890400	Genic enhancers	Fetal Stomach	stomach
49	chr9:95888600-95890600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:95888600-95890600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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