Variant report

Variant	nsv527199
Chromosome Location	chr17:60177504-60181783
allele	n/a
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60169141..60172371-chr17:60175299..60177766,3	MCF-7	breast:
2	chr17:60175247..60178063-chr17:60178504..60180978,2	MCF-7	breast:
3	chr17:60177761..60180120-chr17:60185568..60187531,3	MCF-7	breast:
4	chr17:59934687..59936863-chr17:60180347..60181885,2	MCF-7	breast:
5	chr17:60162660..60165107-chr17:60181643..60183994,2	K562	blood:
6	chr17:60168852..60171200-chr17:60176056..60177614,2	K562	blood:
7	chr17:60003784..60005403-chr17:60178817..60181587,2	MCF-7	breast:
8	chr17:60141564..60144879-chr17:60179169..60182573,3	MCF-7	breast:
9	chr17:60140586..60145534-chr17:60180538..60185303,6	MCF-7	breast:
10	chr17:60175247..60178063-chr17:60178504..60180978,2	MCF-7	breast:
11	chr17:60080687..60083533-chr17:60175845..60178775,2	MCF-7	breast:
12	chr17:60171034..60173944-chr17:60180314..60182987,2	MCF-7	breast:
13	chr17:60173989..60176014-chr17:60177533..60180663,4	K562	blood:
14	chr17:60171082..60173019-chr17:60180018..60181972,2	MCF-7	breast:
15	chr17:60178480..60180741-chr17:60182738..60185657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108510	chromatin interactions
ENSG00000242398	chromatin interactions
ENSG00000108506	chromatin interactions

Extended variants
information (count: 187 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10512493	chr17:60177504-60177505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs527382885	chr17:60177607-60177608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145421639	chr17:60177623-60177624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550766023	chr17:60177629-60177630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368249208	chr17:60177630-60177631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4968476	chr17:60177636-60177637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs138258815	chr17:60177661-60177662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142826764	chr17:60177677-60177678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189703249	chr17:60177690-60177691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs55742128	chr17:60177694-60177695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551430929	chr17:60177697-60177698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375245019	chr17:60177706-60177707	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112564766	chr17:60177729-60177730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530595151	chr17:60177770-60177771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550670202	chr17:60177772-60177773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143292807	chr17:60177819-60177820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181311022	chr17:60177822-60177823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553377832	chr17:60177829-60177830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs186776153	chr17:60177838-60177839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570847350	chr17:60177840-60177841	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9896768	chr17:60177942-60177943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73338437	chr17:60178008-60178009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79319619	chr17:60178089-60178090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537912119	chr17:60178099-60178100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577895075	chr17:60178150-60178151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373008094	chr17:60178151-60178152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs374075938	chr17:60178162-60178163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148027163	chr17:60178164-60178165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111575661	chr17:60178167-60178168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375655180	chr17:60178168-60178169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370094870	chr17:60178204-60178205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374418599	chr17:60178207-60178208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141744104	chr17:60178214-60178215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144205250	chr17:60178223-60178224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34278019	chr17:60178224-60178225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs398119939	chr17:60178239-60178240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189036948	chr17:60178244-60178245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553678688	chr17:60178254-60178255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181709167	chr17:60178271-60178272	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs150569289	chr17:60178282-60178283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140606654	chr17:60178283-60178284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368527260	chr17:60178294-60178295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11655971	chr17:60178315-60178316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530215348	chr17:60178325-60178326	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs547197303	chr17:60178346-60178347	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566743591	chr17:60178358-60178359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542409546	chr17:60178370-60178371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375625481	chr17:60178385-60178386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557541925	chr17:60178415-60178416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552460529	chr17:60178436-60178437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60174000-60177800	Weak transcription	Liver	Liver
2	chr17:60174000-60182200	Weak transcription	Aorta	Aorta
3	chr17:60175200-60179600	Enhancers	Fetal Intestine Small	intestine
4	chr17:60176400-60178600	Weak transcription	Fetal Intestine Large	intestine
5	chr17:60176400-60178600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:60176400-60178600	Enhancers	HepG2	liver
7	chr17:60176600-60177800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:60176600-60178600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:60176800-60177800	Enhancers	GM12878-XiMat	blood
10	chr17:60176800-60182200	Weak transcription	K562	blood
11	chr17:60177000-60178600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr17:60177400-60179200	Weak transcription	Small Intestine	intestine
13	chr17:60177800-60178000	Enhancers	Liver	Liver
14	chr17:60177800-60178200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr17:60177800-60179600	Weak transcription	GM12878-XiMat	blood
16	chr17:60178000-60178400	Weak transcription	Liver	Liver
17	chr17:60178200-60186800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:60178400-60179800	Enhancers	Liver	Liver
19	chr17:60178600-60178800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:60178600-60179200	Flanking Active TSS	HepG2	liver
21	chr17:60178600-60179400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:60178600-60179600	Enhancers	Duodenum Mucosa	Duodenum
23	chr17:60178600-60179600	Enhancers	Fetal Intestine Large	intestine
24	chr17:60179000-60179200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr17:60179200-60179400	Enhancers	Small Intestine	intestine
26	chr17:60179200-60180000	Enhancers	HepG2	liver
27	chr17:60179400-60186600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr17:60179600-60182400	Weak transcription	Fetal Intestine Large	intestine
29	chr17:60179600-60182400	Weak transcription	Fetal Intestine Small	intestine
30	chr17:60179600-60183400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:60179800-60182600	Weak transcription	Liver	Liver
32	chr17:60180000-60180400	Weak transcription	HepG2	liver
33	chr17:60180400-60181000	Enhancers	HepG2	liver
34	chr17:60181000-60182400	Weak transcription	HepG2	liver

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