Variant report

Variant	rs9303142
Chromosome Location	chr17:17590736-17590737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17588333..17591625-chr17:17738463..17742838,4	MCF-7	breast:
2	chr17:17588968..17590942-chr17:17625144..17626762,2	K562	blood:
3	chr17:17588143..17591255-chr17:17654144..17657655,3	MCF-7	breast:
4	chr17:17589077..17591460-chr17:17741926..17746377,4	MCF-7	breast:
5	chr17:17588589..17591181-chr17:17627029..17629351,3	K562	blood:
6	chr17:17588517..17590948-chr17:17654119..17657246,3	K562	blood:
7	chr17:17589035..17591653-chr17:17618320..17620668,2	K562	blood:
8	chr17:17588552..17591494-chr17:17713453..17715244,2	MCF-7	breast:
9	chr17:17588749..17591653-chr17:17617007..17620668,3	K562	blood:
10	chr15:52310484..52312427-chr17:17588190..17590831,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000072310	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12449807	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs28536528	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28669696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58713387	1.00[ASN][1000 genomes]
rs73292256	1.00[ASN][1000 genomes]
rs73294177	0.82[ASN][1000 genomes]
rs9890330	1.00[ASN][1000 genomes]
rs9890929	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891217	1.00[ASN][1000 genomes]
rs9891823	0.95[EUR][1000 genomes]
rs9897150	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs9905513	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9907322	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv907752	chr17:17569012-17750907	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv907753	chr17:17573539-17747289	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv907754	chr17:17573539-17782404	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv1061126	chr17:17578826-17803194	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
11	nsv543238	chr17:17578826-17803194	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	nsv543239	chr17:17580295-17599851	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv907755	chr17:17581184-17610587	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17586600-17590800	Enhancers	Stomach Mucosa	stomach
2	chr17:17586800-17591000	Enhancers	Esophagus	oesophagus
3	chr17:17586800-17591000	Enhancers	Fetal Heart	heart
4	chr17:17587000-17590800	Enhancers	Left Ventricle	heart
5	chr17:17587000-17591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:17587000-17591000	Enhancers	Fetal Muscle Leg	muscle
7	chr17:17587000-17591600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr17:17587000-17593000	Weak transcription	Thymus	Thymus
9	chr17:17587200-17590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:17587200-17590800	Enhancers	Colon Smooth Muscle	Colon
11	chr17:17587200-17590800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr17:17587200-17593400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:17587200-17593600	Weak transcription	Primary B cells from cord blood	blood
14	chr17:17587200-17594600	Weak transcription	Psoas Muscle	Psoas
15	chr17:17587200-17597000	Weak transcription	HSMMtube	muscle
16	chr17:17587400-17591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:17587800-17590800	Enhancers	HUVEC	blood vessel
18	chr17:17588200-17590800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:17588200-17590800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:17588200-17590800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr17:17588200-17590800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr17:17588200-17591000	Enhancers	Lung	lung
23	chr17:17588400-17590800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:17588400-17590800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:17588400-17590800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:17588400-17590800	Enhancers	Right Atrium	heart
27	chr17:17588400-17590800	Flanking Active TSS	NHEK	skin
28	chr17:17588400-17591000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:17588600-17590800	Enhancers	Pancreas	Pancrea
30	chr17:17588600-17591000	Flanking Active TSS	Hela-S3	cervix
31	chr17:17588600-17591000	Flanking Active TSS	HMEC	breast
32	chr17:17588800-17591000	Enhancers	Brain Germinal Matrix	brain
33	chr17:17589000-17591000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:17589000-17591800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr17:17589000-17593800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr17:17589200-17593000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr17:17589200-17593800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:17589400-17590800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:17589400-17590800	Enhancers	Duodenum Mucosa	Duodenum
40	chr17:17589400-17590800	Enhancers	Fetal Stomach	stomach
41	chr17:17589400-17590800	Enhancers	Fetal Thymus	thymus
42	chr17:17589400-17590800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr17:17589400-17591000	Enhancers	Fetal Brain Male	brain
44	chr17:17589400-17591000	Enhancers	Right Ventricle	heart
45	chr17:17589400-17591400	Enhancers	Fetal Lung	lung
46	chr17:17589400-17593200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr17:17589400-17593600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:17589400-17593800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:17589400-17594600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr17:17589400-17595600	Weak transcription	Brain Substantia Nigra	brain

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