Variant report

Variant	nsv1017552
Chromosome Location	chr7:17037976-17064307
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:13)
LncRNA
region (count:4)
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	chr7:17043705..17046242-chr7:17047852..17050297,2	K562	blood:
2	chr7:17040567..17043366-chr7:17054083..17055908,2	K562	blood:
3	chr7:17048036..17050899-chr7:17337557..17339706,3	MCF-7	breast:
4	chr7:17048460..17049301-chr7:17197592..17198341,2	MCF-7	breast:
5	chr7:17040567..17043366-chr7:17054083..17055908,2	K562	blood:
6	chr7:17043705..17046242-chr7:17047852..17050297,2	K562	blood:
7	chr7:17031300..17033743-chr7:17037382..17039290,2	MCF-7	breast:
8	chr7:17060484..17062454-chr7:17134581..17136153,2	MCF-7	breast:
9	chr7:17050581..17052320-chr7:17054806..17056954,2	MCF-7	breast:
10	chr7:17050581..17052320-chr7:17054806..17056954,2	MCF-7	breast:
11	chr7:17019593..17021865-chr7:17036928..17039185,2	MCF-7	breast:
12	chr7:17028983..17030992-chr7:17046440..17048706,2	MCF-7	breast:
13	chr7:17059828..17063648-chr7:17339289..17342084,4	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN13-3	chr7:17060974-17061188	NONHSAT119311
2	lnc-TSPAN13-3	chr7:17059892-17060086	NONHSAT119311
3	lnc-TSPAN13-3	chr7:17059793-17060635	NONHSAT119312
4	lnc-TSPAN13-3	chr7:17060901-17061251	NONHSAT119312

No data

Variant related genes	Relation type
ENSG00000237773	chromatin interactions
ENSG00000106546	chromatin interactions

Extended variants
information (count: 1194 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77975382	chr7:17037981-17037982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534820313	chr7:17038007-17038008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372551486	chr7:17038057-17038058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552958004	chr7:17038077-17038078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73681992	chr7:17038090-17038091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535082024	chr7:17038175-17038176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557030120	chr7:17038176-17038177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575400080	chr7:17038178-17038179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189677968	chr7:17038194-17038195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181813626	chr7:17038201-17038202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144296612	chr7:17038234-17038235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375624177	chr7:17038269-17038270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75337052	chr7:17038292-17038293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148733870	chr7:17038313-17038314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186844120	chr7:17038316-17038317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142420983	chr7:17038330-17038331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544185042	chr7:17038352-17038353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10272612	chr7:17038368-17038369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs573873987	chr7:17038369-17038370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533250772	chr7:17038394-17038395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551416026	chr7:17038437-17038438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566971219	chr7:17038483-17038484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528244176	chr7:17038486-17038487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34879990	chr7:17038512-17038513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190566056	chr7:17038515-17038516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535786099	chr7:17038519-17038520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73681993	chr7:17038539-17038540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150872804	chr7:17038560-17038561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182001436	chr7:17038574-17038575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557535857	chr7:17038577-17038578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139786619	chr7:17038605-17038606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540451434	chr7:17038626-17038627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555964267	chr7:17038630-17038631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574242001	chr7:17038639-17038640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544551311	chr7:17038646-17038647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562847853	chr7:17038658-17038659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533117494	chr7:17038665-17038666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186421429	chr7:17038692-17038693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560360464	chr7:17038704-17038705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527819219	chr7:17038752-17038753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374493789	chr7:17038779-17038780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568289360	chr7:17038786-17038787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114722103	chr7:17038806-17038807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200791509	chr7:17038817-17038818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149449735	chr7:17038822-17038823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544756560	chr7:17038830-17038831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569188469	chr7:17038856-17038857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144499131	chr7:17038875-17038876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189998716	chr7:17038896-17038897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146624677	chr7:17038911-17038912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17030000-17038000	Weak transcription	Fetal Heart	heart
2	chr7:17030000-17038400	Weak transcription	Esophagus	oesophagus
3	chr7:17031200-17047400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:17033400-17052600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:17033600-17043400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:17033800-17045200	Weak transcription	Placenta	Placenta
7	chr7:17037200-17038200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:17038000-17038600	Enhancers	Fetal Heart	heart
9	chr7:17038400-17038600	Enhancers	Esophagus	oesophagus
10	chr7:17038400-17039400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr7:17038400-17039400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr7:17038400-17039800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:17038400-17040200	Enhancers	Dnd41	blood
14	chr7:17038600-17040200	Weak transcription	Esophagus	oesophagus
15	chr7:17039000-17039800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:17039200-17040000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:17039400-17039800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr7:17039400-17039800	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr7:17039400-17039800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:17039400-17039800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:17039400-17039800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:17039400-17039800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr7:17039600-17039800	Enhancers	GM12878-XiMat	blood
24	chr7:17039800-17040400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:17039800-17040600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:17039800-17045000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:17040400-17044800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:17040800-17042200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:17043400-17043800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:17043800-17048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:17044800-17045000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:17044800-17045000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr7:17044800-17045600	Enhancers	Adipose Nuclei	Adipose
34	chr7:17045000-17045400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:17045000-17045400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:17045000-17045600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:17045000-17045600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:17045000-17045600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:17045200-17045600	Enhancers	Stomach Mucosa	stomach
40	chr7:17045400-17045800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:17045600-17045800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:17045600-17048400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr7:17045600-17049200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:17045600-17049200	Weak transcription	Adipose Nuclei	Adipose
45	chr7:17045600-17056200	Weak transcription	Stomach Mucosa	stomach
46	chr7:17045800-17048200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:17045800-17048800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:17047200-17048000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:17047200-17048000	Enhancers	HMEC	breast
50	chr7:17047400-17047600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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