Variant report

Variant	rs7850887
Chromosome Location	chr9:95893465-95893466
allele	C/T
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	POLR2A	chr9:95893320-95893692	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr9:95893360-95893510	HCM	heart:	n/a	chr9:95893429-95893447
3	CTCF	chr9:95893400-95893550	HAc	cerebellar:	n/a	chr9:95893429-95893447
4	CTCF	chr9:95893340-95893490	HCPEpiC	choroid plexus:	n/a	chr9:95893429-95893447
5	POLR2A	chr9:95893003-95893517	GM12878	blood:	n/a	n/a
6	POLR2A	chr9:95893373-95893643	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr9:95893381-95893484	GM12891	blood:	n/a	chr9:95893429-95893447
8	CTCF	chr9:95893401-95893506	HUVEC	blood vessel:	n/a	chr9:95893429-95893447
9	CTCF	chr9:95893420-95893570	GM12872	blood:	n/a	chr9:95893429-95893447
10	POLR2A	chr9:95892926-95894002	GM12878	blood:	n/a	n/a
11	CTCF	chr9:95893380-95893530	HUVEC	blood vessel:	n/a	chr9:95893429-95893447
12	SPI1	chr9:95893361-95893937	HL-60	blood:	n/a	chr9:95893373-95893386

No.	Distal block	Cell Line	Cell type
1	chr9:95881490..95886849-chr9:95891631..95895235,6	K562	blood:
2	chr9:95892565..95895144-chr9:96051454..96053767,2	MCF-7	breast:
3	chr9:95887494..95889402-chr9:95893235..95894836,2	K562	blood:
4	chr9:95893411..95895771-chr9:96236357..96238197,2	MCF-7	breast:
5	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:

Variant related genes	Relation type
NINJ1	TF binding region
ENSG00000165238	Chromatin interaction
ENSG00000223446	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000165233	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12342200	0.81[AFR][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:122 , 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	chr9:95886800-95895400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr9:95887400-95893600	Weak transcription	NHLF	lung
9	chr9:95887600-95894800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr9:95887800-95894000	Weak transcription	Brain Germinal Matrix	brain
11	chr9:95888200-95894600	Weak transcription	Osteobl	bone
12	chr9:95888200-95895000	Enhancers	Esophagus	oesophagus
13	chr9:95888400-95894200	Weak transcription	Hela-S3	cervix
14	chr9:95888400-95894800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:95888400-95895000	Enhancers	HUVEC	blood vessel
16	chr9:95888600-95894200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:95888600-95895000	Enhancers	Brain Cingulate Gyrus	brain
18	chr9:95888600-95895200	Enhancers	Left Ventricle	heart
19	chr9:95888800-95893800	Enhancers	Primary B cells from cord blood	blood
20	chr9:95888800-95893800	Enhancers	Brain Substantia Nigra	brain
21	chr9:95888800-95895000	Enhancers	Lung	lung
22	chr9:95889000-95893800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr9:95889200-95895400	Weak transcription	Thymus	Thymus
24	chr9:95889400-95894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:95889400-95894600	Enhancers	Pancreas	Pancrea
26	chr9:95889400-95894800	Weak transcription	Fetal Brain Male	brain
27	chr9:95889400-95895000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:95889600-95894800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr9:95889600-95894800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:95889600-95895000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:95889600-95895200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:95889800-95893600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:95889800-95893600	Weak transcription	HSMM	muscle
34	chr9:95889800-95894200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:95889800-95894600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:95889800-95895200	Weak transcription	Fetal Kidney	kidney
37	chr9:95890000-95893600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:95890000-95893800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr9:95890000-95893800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:95890000-95893800	Weak transcription	Small Intestine	intestine
41	chr9:95890000-95894600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:95890000-95895000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr9:95890000-95895000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:95890000-95895000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:95890000-95895000	Weak transcription	NH-A	brain
46	chr9:95890000-95895600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr9:95890200-95893600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr9:95890400-95893600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:95890400-95894400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:95890400-95894400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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