Variant report

Variant	rs1006770
Chromosome Location	chr17:18058461-18058462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:18041836..18044896-chr17:18058231..18061380,3	K562	blood:
2	chr17:18057503..18062681-chr17:18084968..18089396,8	MCF-7	breast:
3	chr17:18054836..18057146-chr17:18057563..18061410,3	MCF-7	breast:
4	chr17:18055989..18058847-chr17:18059352..18061809,2	K562	blood:
5	chr17:18049467..18051833-chr17:18057367..18059688,2	MCF-7	breast:
6	chr17:18057350..18061680-chr17:18083813..18088656,8	K562	blood:
7	chr17:18056639..18059705-chr17:18061625..18064659,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266677	Chromatin interaction
ENSG00000091536	Chromatin interaction
ENSG00000091542	Chromatin interaction
ENSG00000238691	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11868625	1.00[AMR][1000 genomes]
rs2230317	1.00[AMR][1000 genomes]
rs4997327	1.00[AMR][1000 genomes]
rs59595662	1.00[AMR][1000 genomes]
rs7214844	1.00[AMR][1000 genomes]
rs72561771	1.00[AMR][1000 genomes]
rs8072048	1.00[AMR][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	nsv907769	chr17:18000321-18064195	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv470580	chr17:18029857-18060192	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	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
12	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18056600-18058800	Enhancers	Fetal Brain Male	brain
2	chr17:18057200-18061400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:18057400-18059400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:18057400-18059600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:18057400-18060200	Weak transcription	HMEC	breast
6	chr17:18057400-18061000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr17:18057400-18061200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:18057400-18061200	Weak transcription	Small Intestine	intestine
9	chr17:18057400-18061400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:18057400-18061400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:18057600-18058800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:18057600-18059000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:18057600-18059200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr17:18057600-18059400	Weak transcription	NHLF	lung
15	chr17:18057600-18059800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:18057600-18060800	Weak transcription	Primary B cells from cord blood	blood
17	chr17:18057600-18060800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:18057600-18060800	Weak transcription	Placenta	Placenta
19	chr17:18057600-18061000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:18057600-18061000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:18057600-18061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr17:18057600-18061000	Weak transcription	Lung	lung
23	chr17:18057600-18061000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr17:18057600-18061200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr17:18057600-18061200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr17:18057600-18061200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:18057600-18061200	Weak transcription	Esophagus	oesophagus
28	chr17:18057600-18061200	Weak transcription	Fetal Intestine Large	intestine
29	chr17:18057600-18061200	Weak transcription	Right Ventricle	heart
30	chr17:18057600-18061400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr17:18057600-18061400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:18057600-18061400	Weak transcription	Adipose Nuclei	Adipose
33	chr17:18057600-18061400	Weak transcription	Brain Angular Gyrus	brain
34	chr17:18057600-18061400	Weak transcription	Colonic Mucosa	Colon
35	chr17:18057600-18061400	Weak transcription	Fetal Intestine Small	intestine
36	chr17:18057600-18061400	Weak transcription	Left Ventricle	heart
37	chr17:18057600-18061400	Weak transcription	Pancreas	Pancrea
38	chr17:18057600-18061400	Weak transcription	Right Atrium	heart
39	chr17:18057600-18061400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:18057600-18061400	Weak transcription	HUVEC	blood vessel
41	chr17:18057600-18061400	Weak transcription	Osteobl	bone
42	chr17:18057600-18061600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr17:18057600-18061600	Weak transcription	Liver	Liver
44	chr17:18057600-18061600	Weak transcription	Brain Anterior Caudate	brain
45	chr17:18057600-18061600	Weak transcription	Psoas Muscle	Psoas
46	chr17:18057600-18061600	Weak transcription	NH-A	brain
47	chr17:18057600-18061800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:18057600-18061800	Weak transcription	NHDF-Ad	bronchial
49	chr17:18057600-18063000	Weak transcription	HSMMtube	muscle
50	chr17:18057800-18058800	Weak transcription	GM12878-XiMat	blood

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