Variant report

Variant	rs1419232
Chromosome Location	chr9:95897564-95897565
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:95897524-95897679	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:95895132-95897818	HepG2	liver:	n/a	n/a
3	JUN	chr9:95895604-95897577	K562	blood:	n/a	chr9:95897129-95897141 chr9:95897131-95897139 chr9:95895948-95895961 chr9:95897132-95897143 chr9:95897129-95897140
4	POLR2A	chr9:95894522-95897665	IMR90	lung:	n/a	n/a
5	CHD1	chr9:95894059-95897564	IMR90	lung:	n/a	n/a
6	MAZ	chr9:95894228-95897581	IMR90	lung:	n/a	chr9:95897159-95897169 chr9:95897131-95897140 chr9:95896208-95896217

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95870960..95873239-chr9:95894940..95897821,4	MCF-7	breast:
2	chr9:95896653..95898441-chr9:96214001..96215918,2	K562	blood:
3	chr9:95895042..95899051-chr9:95945154..95949540,5	MCF-7	breast:
4	chr9:95818120..95822805-chr9:95894646..95898384,4	K562	blood:
5	chr9:95893768..95895658-chr9:95897377..95900133,3	K562	blood:
6	chr9:95856253..95862485-chr9:95892353..95899486,12	MCF-7	breast:
7	chr9:95733025..95737240-chr9:95894074..95898257,5	MCF-7	breast:
8	chr9:95895341..95897817-chr9:99179220..99181040,2	MCF-7	breast:
9	chr9:95895047..95897771-chr9:96069097..96071737,2	MCF-7	breast:
10	chr9:95895154..95898000-chr9:96338001..96340609,3	MCF-7	breast:
11	chr9:95894765..95898074-chr9:96066261..96068998,4	MCF-7	breast:
12	chr9:95894803..95898160-chr9:96337820..96340366,3	MCF-7	breast:
13	chr9:95897165..95898764-chr9:95898859..95901008,2	K562	blood:
14	chr9:95895534..95897628-chr9:96214404..96216660,2	MCF-7	breast:
15	chr9:95855662..95862507-chr9:95894736..95899302,16	MCF-7	breast:

No data

Variant related genes	Relation type
NINJ1	TF binding region
ENSG00000188938	Chromatin interaction
ENSG00000157303	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000165244	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000127084	Chromatin interaction
ENSG00000223446	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000048828	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10114849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761196	0.92[ASN][1000 genomes]
rs11793313	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12378451	1.00[ASW][hapmap]
rs1936400	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2185974	0.82[EUR][1000 genomes]
rs2398824	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2398826	0.92[ASN][1000 genomes]
rs3750555	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3829123	0.82[EUR][1000 genomes]
rs4743886	1.00[ASW][hapmap]
rs4743893	0.94[ASN][1000 genomes]
rs4743895	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4744177	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4744179	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4744180	1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6479455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479456	0.87[AMR][1000 genomes]
rs7847349	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7871154	0.81[ASN][1000 genomes]
rs7875586	1.00[ASW][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv824982	chr9:95895045-95897753	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95896000-95899200	Enhancers	Fetal Brain Male	brain
2	chr9:95896600-95897800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:95896600-95898000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr9:95896800-95897600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr9:95896800-95897600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr9:95896800-95897600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:95896800-95897600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr9:95896800-95897600	Flanking Active TSS	Colonic Mucosa	Colon
9	chr9:95896800-95897600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr9:95896800-95897600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr9:95896800-95898000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr9:95896800-95898000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr9:95897000-95897600	Enhancers	Primary hematopoietic stem cells	blood
14	chr9:95897000-95897600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr9:95897000-95897600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr9:95897000-95897600	Enhancers	Lung	lung
17	chr9:95897000-95897600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr9:95897000-95897600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr9:95897000-95897600	Enhancers	Spleen	Spleen
20	chr9:95897000-95897600	Flanking Active TSS	Hela-S3	cervix
21	chr9:95897000-95897600	Flanking Active TSS	HepG2	liver
22	chr9:95897000-95897600	Enhancers	HUVEC	blood vessel
23	chr9:95897000-95897800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:95897000-95897800	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr9:95897200-95897600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
26	chr9:95897200-95897600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:95897200-95897600	Enhancers	Fetal Intestine Small	intestine
28	chr9:95897200-95897600	Enhancers	Left Ventricle	heart
29	chr9:95897200-95897600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:95897200-95897600	Enhancers	Psoas Muscle	Psoas
31	chr9:95897200-95897600	Enhancers	HMEC	breast
32	chr9:95897200-95897600	Enhancers	Osteobl	bone
33	chr9:95897200-95897800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:95897200-95897800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr9:95897200-95897800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr9:95897200-95897800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:95897200-95897800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr9:95897200-95897800	Enhancers	Fetal Intestine Large	intestine
39	chr9:95897200-95897800	Enhancers	Fetal Thymus	thymus
40	chr9:95897200-95898000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:95897200-95898000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:95897200-95898200	Weak transcription	NHLF	lung
43	chr9:95897200-95898400	Weak transcription	Gastric	stomach
44	chr9:95897200-95898600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:95897200-95898600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr9:95897200-95898600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr9:95897200-95898600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr9:95897200-95898600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:95897200-95898600	Enhancers	Brain Angular Gyrus	brain
50	chr9:95897200-95898600	Enhancers	Brain Substantia Nigra	brain

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