Variant report

Variant	nsv1031515
Chromosome Location	chr7:17131935-17197868
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:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
2	chr7:17048460..17049301-chr7:17197592..17198341,2	MCF-7	breast:
3	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
4	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
5	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
6	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
7	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
8	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
9	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
10	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
11	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
12	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
13	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
14	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
15	chr7:17197527..17200451-chr7:17338316..17340817,2	MCF-7	breast:
16	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
17	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
18	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
19	chr7:17132686..17134514-chr7:17337406..17339797,2	MCF-7	breast:
20	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
21	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
22	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
23	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
24	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
25	chr7:17060484..17062454-chr7:17134581..17136153,2	MCF-7	breast:
26	chr7:17022004..17022890-chr7:17197303..17198260,4	MCF-7	breast:
27	chr7:17197585..17198516-chr7:17340641..17341294,2	MCF-7	breast:
28	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
29	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
30	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
31	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
32	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
33	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
34	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
35	chr7:17168106..17170746-chr7:17337084..17338784,2	MCF-7	breast:
36	chr14:31026542..31028693-chr7:17140272..17142685,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHR-2	chr7:17133141-17133395	XLOC_005997

No data

Variant related genes	Relation type
ENSG00000092140	chromatin interactions
ENSG00000106546	chromatin interactions
ENSG00000237773	chromatin interactions

Extended variants
information (count: 2478 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2478 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6461296	chr7:17131935-17131936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143151263	chr7:17131949-17131950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35573287	chr7:17131978-17131979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111801237	chr7:17132000-17132001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146708467	chr7:17132024-17132025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181132937	chr7:17132036-17132037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372286494	chr7:17132097-17132098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530430640	chr7:17132105-17132106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552113026	chr7:17132116-17132117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570454867	chr7:17132156-17132157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575120727	chr7:17132160-17132161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140281554	chr7:17132177-17132178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187095325	chr7:17132179-17132180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189982662	chr7:17132182-17132183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530346181	chr7:17132183-17132184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373195131	chr7:17132185-17132186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182575301	chr7:17132206-17132207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557370668	chr7:17132235-17132236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569493643	chr7:17132247-17132248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539735314	chr7:17132253-17132254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11983593	chr7:17132282-17132283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187026972	chr7:17132287-17132288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10249923	chr7:17132289-17132290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529941106	chr7:17132292-17132293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555407599	chr7:17132298-17132299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574568043	chr7:17132303-17132304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540248714	chr7:17132362-17132363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116094477	chr7:17132378-17132379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563447945	chr7:17132388-17132389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530877088	chr7:17132404-17132405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189860521	chr7:17132405-17132406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554485020	chr7:17132436-17132437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182169727	chr7:17132446-17132447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185765921	chr7:17132447-17132448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568113319	chr7:17132453-17132454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6946140	chr7:17132458-17132459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs200577279	chr7:17132464-17132465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569347974	chr7:17132484-17132485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552323277	chr7:17132533-17132534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558013286	chr7:17132538-17132539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11977615	chr7:17132568-17132569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568925862	chr7:17132577-17132578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10268527	chr7:17132579-17132580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117927490	chr7:17132596-17132597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111437101	chr7:17132597-17132598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182979114	chr7:17132601-17132602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557170099	chr7:17132602-17132603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367894900	chr7:17132635-17132636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575326001	chr7:17132644-17132645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531950297	chr7:17132733-17132734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17128200-17134600	Weak transcription	Pancreas	Pancrea
2	chr7:17129800-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:17130400-17136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:17130800-17134600	Weak transcription	A549	lung
5	chr7:17131000-17133400	Weak transcription	HMEC	breast
6	chr7:17131000-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:17131000-17134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:17131000-17134600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:17131000-17135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:17131200-17132200	Weak transcription	NHEK	skin
11	chr7:17131200-17133600	Weak transcription	Hela-S3	cervix
12	chr7:17131200-17133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:17131200-17134000	Weak transcription	Osteobl	bone
14	chr7:17131200-17134200	Weak transcription	NHDF-Ad	bronchial
15	chr7:17131200-17134400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:17131200-17134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:17131200-17134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:17132200-17137400	Enhancers	NHEK	skin
19	chr7:17133000-17133400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr7:17133000-17133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:17133400-17135400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:17133400-17140000	Enhancers	HMEC	breast
23	chr7:17133600-17138800	Enhancers	Hela-S3	cervix
24	chr7:17133800-17136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:17133800-17136800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:17133800-17139800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:17134000-17135800	Enhancers	Osteobl	bone
28	chr7:17134200-17134400	Enhancers	NHDF-Ad	bronchial
29	chr7:17134200-17137400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr7:17134400-17134800	Weak transcription	NHDF-Ad	bronchial
31	chr7:17134400-17135800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:17134400-17136000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:17134600-17135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:17134600-17135000	Enhancers	Fetal Brain Male	brain
35	chr7:17134600-17135000	Enhancers	Pancreas	Pancrea
36	chr7:17134600-17135200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:17134600-17135200	Enhancers	A549	lung
38	chr7:17134600-17135400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:17134600-17135600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:17134600-17135800	Enhancers	Brain Hippocampus Middle	brain
41	chr7:17134800-17135200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr7:17134800-17135600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:17134800-17135800	Enhancers	NHDF-Ad	bronchial
44	chr7:17135000-17135400	Weak transcription	Fetal Brain Male	brain
45	chr7:17135000-17135800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:17135000-17139400	Weak transcription	Pancreas	Pancrea
47	chr7:17135200-17135600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:17135200-17137400	Weak transcription	A549	lung
49	chr7:17135200-17138000	Enhancers	Dnd41	blood
50	chr7:17135400-17135800	Enhancers	Primary monocytes fromperipheralblood	blood

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