Variant report

Variant	nsv1021079
Chromosome Location	chr7:17126399-17171067
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17060484..17062454-chr7:17134581..17136153,2	MCF-7	breast:
2	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
3	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
4	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
5	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
6	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
7	chr7:17132686..17134514-chr7:17337406..17339797,2	MCF-7	breast:
8	chr7:17168106..17170746-chr7:17337084..17338784,2	MCF-7	breast:
9	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
10	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
11	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
12	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
13	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
14	chr14:31026542..31028693-chr7:17140272..17142685,2	MCF-7	breast:
15	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
16	chr7:17117134..17118847-chr7:17125152..17127998,2	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
ENSG00000106546	chromatin interactions
ENSG00000092140	chromatin interactions
ENSG00000237773	chromatin interactions

Extended variants
information (count: 1632 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1632 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6969869	chr7:17126399-17126400	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6969467	chr7:17126427-17126428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182089610	chr7:17126465-17126466	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532337513	chr7:17126548-17126549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547233972	chr7:17126549-17126550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369296010	chr7:17126578-17126579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554538552	chr7:17126582-17126583	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536620210	chr7:17126583-17126584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs186412581	chr7:17126640-17126641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145683682	chr7:17126685-17126686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370210532	chr7:17126722-17126723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6970379	chr7:17126744-17126745	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189208765	chr7:17126845-17126846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558643735	chr7:17126848-17126849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542893943	chr7:17126856-17126857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71540787	chr7:17126868-17126869	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113250009	chr7:17126869-17126870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79621538	chr7:17126917-17126918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74363796	chr7:17126942-17126943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573489559	chr7:17126965-17126966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563937279	chr7:17126978-17126979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147736402	chr7:17126995-17126996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1357989	chr7:17127002-17127003	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs117730367	chr7:17127018-17127019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367857664	chr7:17127048-17127049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71551770	chr7:17127049-17127050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3052012	chr7:17127065-17127066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140127577	chr7:17127121-17127122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180690821	chr7:17127122-17127123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529820819	chr7:17127187-17127188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79104818	chr7:17127210-17127211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569588086	chr7:17127216-17127217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71551771	chr7:17127221-17127222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551843917	chr7:17127222-17127223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561405216	chr7:17127272-17127273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551848969	chr7:17127287-17127288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570418186	chr7:17127314-17127315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111888570	chr7:17127338-17127339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1357988	chr7:17127369-17127370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6974905	chr7:17127388-17127389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186463924	chr7:17127413-17127414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191556425	chr7:17127462-17127463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181105413	chr7:17127507-17127508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111276614	chr7:17127531-17127532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10247820	chr7:17127579-17127580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575967714	chr7:17127601-17127602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56112268	chr7:17127604-17127605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546467235	chr7:17127617-17127618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112554490	chr7:17127665-17127666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138006503	chr7:17127696-17127697	Weak transcription	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17124000-17127000	Enhancers	HepG2	liver
2	chr7:17125000-17126800	Enhancers	Liver	Liver
3	chr7:17125600-17126800	Weak transcription	Pancreas	Pancrea
4	chr7:17125800-17126600	Flanking Active TSS	A549	lung
5	chr7:17126600-17126800	Enhancers	A549	lung
6	chr7:17126800-17127200	Enhancers	Pancreas	Pancrea
7	chr7:17126800-17128200	Weak transcription	A549	lung
8	chr7:17127200-17128000	Weak transcription	Pancreas	Pancrea
9	chr7:17128000-17128200	Enhancers	Pancreas	Pancrea
10	chr7:17128200-17128600	Enhancers	A549	lung
11	chr7:17128200-17134600	Weak transcription	Pancreas	Pancrea
12	chr7:17128600-17130400	Weak transcription	A549	lung
13	chr7:17129200-17129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:17129400-17130400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:17129400-17131000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:17129600-17129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:17129600-17131200	Enhancers	NHDF-Ad	bronchial
18	chr7:17129600-17131200	Enhancers	NHEK	skin
19	chr7:17129800-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:17130000-17131200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:17130400-17130800	Enhancers	A549	lung
22	chr7:17130400-17131000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:17130400-17131000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:17130400-17131200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:17130400-17131200	Enhancers	NH-A	brain
26	chr7:17130400-17131200	Enhancers	Osteobl	bone
27	chr7:17130400-17136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:17130600-17131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:17130600-17131000	Enhancers	HMEC	breast
30	chr7:17130600-17131200	Enhancers	Hela-S3	cervix
31	chr7:17130600-17131200	Enhancers	NHLF	lung
32	chr7:17130800-17131200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:17130800-17131200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:17130800-17134600	Weak transcription	A549	lung
35	chr7:17131000-17131200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:17131000-17133400	Weak transcription	HMEC	breast
37	chr7:17131000-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:17131000-17134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:17131000-17134600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:17131000-17135000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:17131200-17132200	Weak transcription	NHEK	skin
42	chr7:17131200-17133600	Weak transcription	Hela-S3	cervix
43	chr7:17131200-17133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:17131200-17134000	Weak transcription	Osteobl	bone
45	chr7:17131200-17134200	Weak transcription	NHDF-Ad	bronchial
46	chr7:17131200-17134400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:17131200-17134400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:17131200-17134800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:17132200-17137400	Enhancers	NHEK	skin
50	chr7:17133000-17133400	Enhancers	Primary monocytes fromperipheralblood	blood

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