Variant report

Variant	rs8076828
Chromosome Location	chr17:17478190-17478191
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	chr17:17478189-17478252	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17477958..17480343-chr17:17481863..17484707,3	K562	blood:

Variant related genes	Relation type
RNU6-468P	TF binding region
ENSG00000206730	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12103816	1.00[EUR][1000 genomes]
rs12103822	1.00[EUR][1000 genomes]
rs3744120	1.00[EUR][1000 genomes]
rs3760186	0.89[ASN][1000 genomes]
rs4646353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646360	0.96[ASN][1000 genomes]
rs4646361	0.96[ASN][1000 genomes]
rs4646362	0.96[ASN][1000 genomes]
rs4646363	0.96[ASN][1000 genomes]
rs4646364	0.96[ASN][1000 genomes]
rs4646366	0.96[ASN][1000 genomes]
rs4646373	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646374	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646375	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646384	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646386	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56046764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58874056	0.96[ASN][1000 genomes]
rs58990997	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58992576	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61692723	1.00[EUR][1000 genomes]
rs70963024	1.00[EUR][1000 genomes]
rs7210045	0.96[ASN][1000 genomes]
rs73298588	0.96[ASN][1000 genomes]
rs73298590	0.96[ASN][1000 genomes]
rs73300565	0.96[ASN][1000 genomes]
rs73978955	1.00[EUR][1000 genomes]
rs73978967	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73978971	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73978975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065788	0.96[ASN][1000 genomes]
rs8066187	0.96[ASN][1000 genomes]
rs8068641	0.93[ASN][1000 genomes]
rs879375	1.00[EUR][1000 genomes]
rs9900054	1.00[EUR][1000 genomes]
rs9902188	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	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
6	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr17:17465800-17478200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:17465800-17478200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr17:17465800-17478200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:17465800-17478200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:17466000-17484000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:17466400-17478200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr17:17466400-17480000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:17467200-17478200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr17:17468800-17482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:17468800-17484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:17468800-17484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr17:17469000-17478400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:17469000-17478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:17469000-17482000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
19	chr17:17469600-17483800	Weak transcription	Osteobl	bone
20	chr17:17469800-17478600	Weak transcription	NHLF	lung
21	chr17:17470200-17483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:17470600-17478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17470800-17478400	Weak transcription	Aorta	Aorta
24	chr17:17470800-17483600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr17:17471400-17478200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:17471400-17479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:17471600-17482800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
29	chr17:17471800-17478400	Weak transcription	Brain Substantia Nigra	brain
30	chr17:17471800-17478800	Weak transcription	Fetal Lung	lung
31	chr17:17471800-17479000	Weak transcription	Brain Hippocampus Middle	brain
32	chr17:17471800-17479600	Weak transcription	Brain Anterior Caudate	brain
33	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
34	chr17:17472200-17478400	Weak transcription	Colonic Mucosa	Colon
35	chr17:17472200-17478400	Weak transcription	Gastric	stomach
36	chr17:17472200-17478600	Weak transcription	Esophagus	oesophagus
37	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
38	chr17:17473000-17479600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr17:17473200-17478600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:17473600-17484000	Weak transcription	HSMMtube	muscle
41	chr17:17473800-17478800	Weak transcription	Placenta	Placenta
42	chr17:17474200-17478200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr17:17474200-17478600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:17474400-17478200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:17474400-17478200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr17:17474400-17478400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr17:17474400-17479000	Weak transcription	Brain Germinal Matrix	brain
49	chr17:17474400-17481200	Strong transcription	Fetal Stomach	stomach
50	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links