Variant report

Variant	rs11657194
Chromosome Location	chr17:18092588-18092589
allele	G/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	chr17:18092479-18092698	HepG2	liver:	n/a	n/a
2	MAFK	chr17:18092585-18092785	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:18092389-18092839	K562	blood:	n/a	n/a
4	MAFK	chr17:18092570-18092592	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18080952..18083841-chr17:18091847..18093400,2	MCF-7	breast:
2	chr17:18042118..18044464-chr17:18092333..18094931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266677	TF binding region
ENSG00000091536	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10048161	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10451244	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11078411	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11078412	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11652964	0.90[EUR][1000 genomes]
rs11653988	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11654146	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11654177	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11654741	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11655588	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11655731	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11655797	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11656035	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11658477	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11868832	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11868886	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11871039	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11871491	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12600694	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13284	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1563371	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1563373	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16960980	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16960983	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16960986	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16960990	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16960996	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2015336	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28811342	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3088233	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34474249	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36058389	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55918833	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58441148	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59354912	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60285171	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072464	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072465	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62072466	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072467	0.89[EUR][1000 genomes]
rs62072468	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62072496	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62072497	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62072498	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62072500	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073602	0.89[EUR][1000 genomes]
rs62073603	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073604	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073605	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073606	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073607	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62073608	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62073609	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62073611	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073615	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073649	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073650	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6502640	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7207276	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs735960	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8065026	0.89[EUR][1000 genomes]
rs8069094	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8077577	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9916193	0.89[EUR][1000 genomes]
rs997315	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18088000-18093000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:18089000-18095400	Enhancers	Small Intestine	intestine
3	chr17:18089600-18095000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:18090000-18093400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
5	chr17:18090200-18094200	Genic enhancers	Spleen	Spleen
6	chr17:18090200-18095000	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr17:18090200-18103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:18090400-18093000	Genic enhancers	Primary hematopoietic stem cells	blood
9	chr17:18090400-18093600	Genic enhancers	Esophagus	oesophagus
10	chr17:18090800-18093600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:18090800-18095000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr17:18090800-18098200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr17:18090800-18098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr17:18090800-18104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:18091000-18093400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr17:18091000-18094800	Genic enhancers	Fetal Intestine Large	intestine
17	chr17:18091000-18095000	Genic enhancers	Fetal Thymus	thymus
18	chr17:18091000-18095200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:18091000-18095600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr17:18091000-18095600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr17:18091000-18095800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr17:18091000-18096000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr17:18091000-18096000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:18091200-18093200	Genic enhancers	Placenta	Placenta
25	chr17:18091200-18093400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:18091200-18093400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:18091200-18093600	Genic enhancers	Left Ventricle	heart
28	chr17:18091200-18094400	Enhancers	Fetal Heart	heart
29	chr17:18091200-18094600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:18091200-18095400	Genic enhancers	Fetal Stomach	stomach
31	chr17:18091200-18095600	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr17:18091200-18095800	Genic enhancers	Fetal Intestine Small	intestine
33	chr17:18091200-18097000	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr17:18091200-18104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:18091400-18093400	Genic enhancers	Lung	lung
36	chr17:18091400-18094200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr17:18091400-18094400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr17:18091400-18095600	Enhancers	Psoas Muscle	Psoas
39	chr17:18091400-18097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr17:18091400-18098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:18091400-18114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:18091600-18093000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
43	chr17:18091600-18095000	Enhancers	Ovary	ovary
44	chr17:18091600-18095600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:18091600-18097800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:18091800-18092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:18091800-18092800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr17:18091800-18092800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr17:18091800-18092800	Weak transcription	Fetal Kidney	kidney
50	chr17:18091800-18092800	Strong transcription	Thymus	Thymus

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