Variant report

Variant	rs62072465
Chromosome Location	chr17:18114494-18114495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18100028..18102220-chr17:18112479..18114725,2	K562	blood:
2	chr17:18111005..18113844-chr17:18114465..18116043,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10048161	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078411	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078412	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652964	0.86[EUR][1000 genomes]
rs11653988	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654146	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654177	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654741	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655588	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655731	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11655797	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656035	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11657194	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11658477	0.87[EUR][1000 genomes]
rs11868832	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868886	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11871039	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11871491	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600694	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13284	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563371	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16960980	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960983	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960986	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960990	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960996	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015336	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28811342	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088233	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34474249	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36058389	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55918833	0.87[EUR][1000 genomes]
rs58441148	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59354912	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60285171	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072464	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62072466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072467	0.95[EUR][1000 genomes]
rs62072468	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072496	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62072497	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62072498	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072500	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073602	0.86[EUR][1000 genomes]
rs62073603	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62073604	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073605	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62073606	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62073607	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073608	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073609	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073611	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62073615	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62073649	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073650	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502640	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207276	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs735960	0.87[EUR][1000 genomes]
rs8065026	0.85[EUR][1000 genomes]
rs8069094	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8077577	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9916193	0.85[EUR][1000 genomes]
rs997315	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	nsv1062828	chr17:18098110-18136330	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	nsv543245	chr17:18098110-18136330	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18094200-18114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr17:18094400-18114600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:18094600-18114600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:18095000-18114600	Strong transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:18095000-18114800	Strong transcription	Fetal Thymus	thymus
6	chr17:18095400-18116000	Strong transcription	Fetal Stomach	stomach
7	chr17:18095600-18114600	Strong transcription	Dnd41	blood
8	chr17:18096200-18114600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:18096800-18114600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr17:18097000-18114600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr17:18097200-18114600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr17:18097600-18114600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr17:18097800-18114600	Strong transcription	Fetal Brain Female	brain
14	chr17:18098000-18114600	Strong transcription	Primary B cells from cord blood	blood
15	chr17:18098000-18114600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:18098000-18114600	Strong transcription	Fetal Muscle Leg	muscle
17	chr17:18101600-18114600	Strong transcription	Thymus	Thymus
18	chr17:18101600-18115400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:18102000-18114600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:18102000-18116200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr17:18102200-18114600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:18103000-18114600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:18103000-18114800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:18104000-18114600	Strong transcription	Spleen	Spleen
25	chr17:18104600-18114600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:18104800-18116400	Weak transcription	Psoas Muscle	Psoas
27	chr17:18105600-18114600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:18105600-18114600	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr17:18105800-18114600	Strong transcription	Adipose Nuclei	Adipose
30	chr17:18105800-18114600	Strong transcription	GM12878-XiMat	blood
31	chr17:18105800-18114800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:18105800-18114800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr17:18106400-18114600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:18106600-18114600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:18106600-18114600	Strong transcription	NHEK	skin
36	chr17:18106800-18114600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr17:18106800-18114600	Strong transcription	Ovary	ovary
38	chr17:18107200-18114600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:18107200-18114600	Strong transcription	Liver	Liver
40	chr17:18107200-18114600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr17:18107200-18114600	Strong transcription	Placenta	Placenta
42	chr17:18107200-18114600	Strong transcription	A549	lung
43	chr17:18107200-18115400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:18107400-18114600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:18107400-18115200	Strong transcription	Fetal Intestine Small	intestine
46	chr17:18107600-18114600	Strong transcription	Fetal Intestine Large	intestine
47	chr17:18108000-18114600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:18108000-18114600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:18108200-18114600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr17:18108400-18114600	Strong transcription	Esophagus	oesophagus

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