Variant report

Variant	rs2597170
Chromosome Location	chr17:46034247-46034248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46004717..46007682-chr17:46032533..46035119,2	K562	blood:
2	chr17:46033378..46035935-chr17:46129952..46132940,2	MCF-7	breast:
3	chr17:45925187..45928793-chr17:46033650..46037470,3	MCF-7	breast:
4	chr17:45917897..45920844-chr17:46033567..46035986,3	MCF-7	breast:
5	chr17:46032611..46035777-chr17:46183682..46186625,3	MCF-7	breast:
6	chr17:46033549..46039001-chr17:46046732..46050276,6	K562	blood:
7	chr17:46033818..46036436-chr17:48943075..48944680,2	MCF-7	breast:
8	chr17:45898563..45901614-chr17:46033321..46036165,3	MCF-7	breast:
9	chr17:46033611..46036450-chr20:45980908..45983000,2	MCF-7	breast:
10	chr17:46031321..46037809-chr17:46043555..46050276,13	K562	blood:
11	chr17:45969751..45975935-chr17:46032072..46038613,14	MCF-7	breast:
12	chr17:46034205..46036701-chr17:46124057..46126410,2	MCF-7	breast:
13	chr17:45917528..45920214-chr17:46032690..46035678,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189120	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000082641	Chromatin interaction
ENSG00000263412	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000006025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10853092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650044	1.00[ASN][1000 genomes]
rs1986719	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs208016	1.00[ASN][1000 genomes]
rs2229368	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2325715	1.00[ASN][1000 genomes]
rs2428607	1.00[ASN][1000 genomes]
rs2525108	1.00[ASN][1000 genomes]
rs2525111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs35738964	1.00[ASN][1000 genomes]
rs6504092	1.00[ASN][1000 genomes]
rs7405753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8078698	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
2	chr17:46020000-46034600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr17:46027200-46034400	Weak transcription	Hela-S3	cervix
4	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
5	chr17:46027400-46034400	Weak transcription	Fetal Lung	lung
6	chr17:46027400-46034600	Weak transcription	K562	blood
7	chr17:46027400-46034800	Weak transcription	NH-A	brain
8	chr17:46027600-46034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr17:46027600-46034800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
11	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:46029200-46035200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
15	chr17:46029600-46034600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:46030000-46035000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr17:46030200-46034400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr17:46030200-46045800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:46030400-46035200	Weak transcription	Osteobl	bone
20	chr17:46030600-46035600	Active TSS	Colonic Mucosa	Colon
21	chr17:46031200-46035200	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr17:46031400-46034600	Weak transcription	NHEK	skin
23	chr17:46031400-46035600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr17:46031400-46036000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:46031400-46039000	Weak transcription	Primary T cells from cord blood	blood
26	chr17:46031800-46034400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:46032000-46037800	Active TSS	Rectal Smooth Muscle	rectum
28	chr17:46032200-46035400	Active TSS	Stomach Mucosa	stomach
29	chr17:46032200-46036200	Active TSS	Duodenum Mucosa	Duodenum
30	chr17:46032600-46034400	Enhancers	A549	lung
31	chr17:46032600-46035600	Enhancers	Liver	Liver
32	chr17:46032800-46035000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:46032800-46035200	Active TSS	Gastric	stomach
34	chr17:46032800-46035200	Active TSS	Small Intestine	intestine
35	chr17:46032800-46036400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:46032800-46037800	Enhancers	Fetal Thymus	thymus
37	chr17:46033000-46034400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
38	chr17:46033000-46035200	Active TSS	Fetal Kidney	kidney
39	chr17:46033200-46035200	Active TSS	Lung	lung
40	chr17:46033200-46035400	Active TSS	Fetal Intestine Large	intestine
41	chr17:46033200-46035400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr17:46033400-46034400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:46033600-46034800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr17:46033600-46035400	Active TSS	Pancreas	Pancrea
45	chr17:46034000-46034800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr17:46034000-46035200	Enhancers	Thymus	Thymus
47	chr17:46034000-46035400	Flanking Active TSS	HepG2	liver
48	chr17:46034000-46035600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
49	chr17:46034000-46035600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:46034000-46036400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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