Variant report

Variant	rs17153785
Chromosome Location	chr8:11622865-11622866
allele	A/G
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	CTCF	chr8:11622845-11623551	HCT-116	colon:	n/a	n/a
2	CTCF	chr8:11622694-11623860	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr8:11622820-11622970	A549	lung:	n/a	n/a
4	FOS	chr8:11622714-11623539	HUVEC	blood vessel:	n/a	chr8:11622953-11622963 chr8:11622954-11622962 chr8:11622952-11622963
5	RAD21	chr8:11622772-11623561	ECC-1	luminal epithelium:	n/a	n/a
6	POU2F2	chr8:11622855-11623325	GM12878	blood:	n/a	n/a
7	CTCF	chr8:11622724-11623617	HCT-116	colon:	n/a	n/a
8	SMC3	chr8:11622704-11623564	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr8:11622693-11623820	A549	lung:	n/a	n/a
10	MAX	chr8:11622849-11623361	H1-hESC	embryonic stem cell:	n/a	chr8:11623155-11623162 chr8:11622954-11622963
11	RAD21	chr8:11622683-11623839	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr8:11622764-11623532	A549	lung:	n/a	n/a
13	CTCF	chr8:11622817-11622876	GM10266	blood:	n/a	n/a
14	RAD21	chr8:11622836-11623435	HepG2	liver:	n/a	n/a
15	RAD21	chr8:11622811-11623484	ECC-1	luminal epithelium:	n/a	n/a
16	MAZ	chr8:11622557-11623455	IMR90	lung:	n/a	chr8:11623155-11623162 chr8:11622954-11622963
17	RAD21	chr8:11622745-11623568	HCT-116	colon:	n/a	n/a
18	RAD21	chr8:11622729-11623463	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11614600..11617057-chr8:11621350..11623693,3	K562	blood:
2	chr8:11622652..11623752-chr8:11800899..11801806,5	MCF-7	breast:
3	chr8:11622750..11623420-chr8:11815244..11815854,2	MCF-7	breast:
4	chr8:11613933..11616620-chr8:11622009..11623693,2	K562	blood:
5	chr8:11622669..11623564-chr8:11800869..11801753,3	K562	blood:

Variant related genes	Relation type
NEIL2	TF binding region
ENSG00000136574	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1065712	0.90[CEU][hapmap]
rs17810696	0.89[EUR][1000 genomes]
rs17810775	0.94[EUR][1000 genomes]
rs17810889	0.94[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs2645398	1.00[CEU][hapmap]
rs2645450	0.88[JPT][hapmap]
rs2740431	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2740444	0.80[CHD][hapmap];0.81[JPT][hapmap]
rs3802168	0.83[CHB][hapmap]
rs4124646	0.91[CEU][hapmap]
rs4840582	0.91[CEU][hapmap]
rs4840584	0.91[CEU][hapmap]
rs4840585	0.83[CEU][hapmap]
rs4841584	1.00[CEU][hapmap]
rs4841589	0.95[EUR][1000 genomes]
rs4841593	0.83[EUR][1000 genomes]
rs56213203	0.90[EUR][1000 genomes]
rs6982453	0.83[JPT][hapmap]
rs73207216	0.84[EUR][1000 genomes]
rs804256	0.83[JPT][hapmap]
rs804287	0.88[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs804288	0.87[ASN][1000 genomes]
rs809203	0.88[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs809204	0.88[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs8191544	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs8191557	0.86[ASN][1000 genomes]
rs8191592	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs8191594	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs8191605	0.91[CEU][hapmap]
rs8191606	0.91[CEU][hapmap]
rs8191607	0.90[CEU][hapmap]
rs8191617	0.91[CEU][hapmap]

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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11615800-11626800	Weak transcription	Left Ventricle	heart
2	chr8:11617000-11623000	Weak transcription	Placenta	Placenta
3	chr8:11617000-11626800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:11617400-11623200	Weak transcription	HepG2	liver
5	chr8:11617400-11626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:11617400-11626400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:11617400-11626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:11618000-11626000	Weak transcription	Pancreas	Pancrea
9	chr8:11618000-11626800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:11618400-11623000	Weak transcription	Liver	Liver
11	chr8:11619600-11623200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:11619600-11623200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:11619600-11623200	Weak transcription	Primary B cells from cord blood	blood
14	chr8:11619600-11626800	Weak transcription	Gastric	stomach
15	chr8:11620200-11623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:11620400-11623000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:11620400-11623000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:11620400-11623200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:11620400-11623200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:11620400-11623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:11620400-11623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:11620400-11623200	Weak transcription	A549	lung
23	chr8:11620400-11623200	Weak transcription	HMEC	breast
24	chr8:11620400-11623200	Weak transcription	NHLF	lung
25	chr8:11620400-11626600	Weak transcription	Right Ventricle	heart
26	chr8:11620600-11623000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:11620600-11623200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:11620600-11623200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:11621000-11623000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:11621000-11623200	Weak transcription	NH-A	brain
31	chr8:11621200-11626600	Weak transcription	Fetal Intestine Small	intestine
32	chr8:11621600-11623200	Enhancers	NHDF-Ad	bronchial
33	chr8:11621600-11624800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:11622000-11623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:11622000-11623800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:11622000-11623800	Enhancers	HSMM	muscle
37	chr8:11622400-11626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:11622600-11623800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:11622600-11623800	Enhancers	NHEK	skin
40	chr8:11622800-11623000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr8:11622800-11623200	Enhancers	K562	blood
42	chr8:11622800-11623200	Enhancers	Osteobl	bone
43	chr8:11622800-11623400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr8:11622800-11623400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr8:11622800-11623400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr8:11622800-11623400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:11622800-11623400	Enhancers	Brain Anterior Caudate	brain
48	chr8:11622800-11623400	Enhancers	Brain Substantia Nigra	brain
49	chr8:11622800-11623400	Enhancers	Fetal Thymus	thymus
50	chr8:11622800-11623400	Enhancers	Monocytes-CD14+_RO01746	blood

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