Variant report

Variant	nsv1026959
Chromosome Location	chr7:17112981-17233853
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:54)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
2	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
3	chr7:17218892..17220636-chr7:17223919..17226233,2	K562	blood:
4	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
5	chr7:17197585..17198516-chr7:17340641..17341294,2	MCF-7	breast:
6	chr7:17115671..17117289-chr7:17121951..17124476,2	K562	blood:
7	chr7:17108384..17110452-chr7:17112989..17115073,2	MCF-7	breast:
8	chr7:17216327..17218821-chr7:17225312..17228115,2	MCF-7	breast:
9	chr7:17112512..17114354-chr7:17120399..17122441,2	MCF-7	breast:
10	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
11	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
12	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
13	chr7:17197527..17200451-chr7:17338316..17340817,2	MCF-7	breast:
14	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
15	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
16	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
17	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
18	chr7:17132686..17134514-chr7:17337406..17339797,2	MCF-7	breast:
19	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
20	chr7:17209053..17211807-chr7:17213583..17216360,2	K562	blood:
21	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
22	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
23	chr7:17208762..17211542-chr7:17338009..17340121,2	MCF-7	breast:
24	chr7:17115671..17117289-chr7:17121951..17124476,2	K562	blood:
25	chr7:17022004..17022890-chr7:17197303..17198260,4	MCF-7	breast:
26	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
27	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
28	chr7:17213957..17216585-chr7:17218859..17220590,2	K562	blood:
29	chr7:17060484..17062454-chr7:17134581..17136153,2	MCF-7	breast:
30	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
31	chr14:31026542..31028693-chr7:17140272..17142685,2	MCF-7	breast:
32	chr7:17218892..17220636-chr7:17223919..17226233,2	K562	blood:
33	chr7:17048460..17049301-chr7:17197592..17198341,2	MCF-7	breast:
34	chr7:17209053..17211807-chr7:17213583..17216360,2	K562	blood:
35	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
36	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
37	chr7:17112512..17114354-chr7:17120399..17122441,2	MCF-7	breast:
38	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
39	chr7:17136133..17137910-chr7:17145966..17147609,2	MCF-7	breast:
40	chr7:17117134..17118847-chr7:17125152..17127998,2	MCF-7	breast:
41	chr7:17216327..17218821-chr7:17225312..17228115,2	MCF-7	breast:
42	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
43	chr7:17168106..17170746-chr7:17337084..17338784,2	MCF-7	breast:
44	chr7:17117134..17118847-chr7:17125152..17127998,2	MCF-7	breast:
45	chr7:17213957..17216585-chr7:17218859..17220590,2	K562	blood:
46	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
47	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
48	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
49	chr7:17212673..17214614-chr7:17217204..17219643,2	MCF-7	breast:
50	chr7:17212673..17214614-chr7:17217204..17219643,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGR3-5	chr7:17218322-17218602	l_3366_chr7:17218321-17304614_testes
2	lnc-AHR-2	chr7:17133141-17133395	XLOC_005997
3	lnc-AHR-5	chr7:17120222-17122197	NONHSAT119316

No data

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

Extended variants
information (count: 4407 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4407 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10243674	chr7:17112981-17112982	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566445240	chr7:17112986-17112987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529136964	chr7:17117012-17117013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550846088	chr7:17117029-17117030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372929212	chr7:17117053-17117054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187763851	chr7:17117113-17117114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539416580	chr7:17117122-17117123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557918508	chr7:17117147-17117148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189803336	chr7:17117198-17117199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534425661	chr7:17117227-17117228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76042798	chr7:17117265-17117266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574284338	chr7:17117277-17117278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10224957	chr7:17117288-17117289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140609463	chr7:17117304-17117305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182699595	chr7:17117327-17117328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150467568	chr7:17117392-17117393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569728399	chr7:17117396-17117397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182289852	chr7:17120251-17120252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs187211992	chr7:17120264-17120265	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs562505467	chr7:17120275-17120276	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs150732314	chr7:17120315-17120316	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs189848509	chr7:17120316-17120317	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs554547510	chr7:17120352-17120353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs139158604	chr7:17120357-17120358	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs62444482	chr7:17120369-17120370	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs199858073	chr7:17120402-17120403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs575080405	chr7:17120414-17120415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145368476	chr7:17120421-17120422	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199668690	chr7:17120437-17120438	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs75382162	chr7:17120470-17120471	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs541272663	chr7:17120474-17120475	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs543411240	chr7:17120587-17120588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs201813304	chr7:17120592-17120593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs559935038	chr7:17120595-17120596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs149500981	chr7:17120628-17120629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs182172851	chr7:17120629-17120630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs6948384	chr7:17120665-17120666	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530950364	chr7:17120672-17120673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs185772370	chr7:17120700-17120701	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs570967112	chr7:17120788-17120789	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs535158225	chr7:17120870-17120871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546773606	chr7:17120874-17120875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs533070809	chr7:17120914-17120915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs565893465	chr7:17120924-17120925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536041819	chr7:17120936-17120937	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190389834	chr7:17121002-17121003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs183190669	chr7:17121038-17121039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs113037561	chr7:17121041-17121042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs13222641	chr7:17121046-17121047	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372641436	chr7:17121070-17121071	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD
Depressive disorder	21152026	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17111600-17113000	Enhancers	HepG2	liver
2	chr7:17117000-17117400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:17124000-17127000	Enhancers	HepG2	liver
4	chr7:17124200-17124600	Enhancers	A549	lung
5	chr7:17124200-17124800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:17124400-17124800	Active TSS	Liver	Liver
7	chr7:17124400-17125000	Enhancers	Gastric	stomach
8	chr7:17124400-17125600	Enhancers	Pancreas	Pancrea
9	chr7:17124400-17125800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:17124600-17125000	Flanking Active TSS	A549	lung
11	chr7:17124600-17125800	Enhancers	Stomach Mucosa	stomach
12	chr7:17124800-17125000	Flanking Active TSS	Liver	Liver
13	chr7:17124800-17125000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr7:17125000-17125800	Enhancers	A549	lung
15	chr7:17125000-17126800	Enhancers	Liver	Liver
16	chr7:17125600-17126800	Weak transcription	Pancreas	Pancrea
17	chr7:17125800-17126600	Flanking Active TSS	A549	lung
18	chr7:17126600-17126800	Enhancers	A549	lung
19	chr7:17126800-17127200	Enhancers	Pancreas	Pancrea
20	chr7:17126800-17128200	Weak transcription	A549	lung
21	chr7:17127200-17128000	Weak transcription	Pancreas	Pancrea
22	chr7:17128000-17128200	Enhancers	Pancreas	Pancrea
23	chr7:17128200-17128600	Enhancers	A549	lung
24	chr7:17128200-17134600	Weak transcription	Pancreas	Pancrea
25	chr7:17128600-17130400	Weak transcription	A549	lung
26	chr7:17129200-17129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:17129400-17130400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:17129400-17131000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:17129600-17129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:17129600-17131200	Enhancers	NHDF-Ad	bronchial
31	chr7:17129600-17131200	Enhancers	NHEK	skin
32	chr7:17129800-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:17130000-17131200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:17130400-17130800	Enhancers	A549	lung
35	chr7:17130400-17131000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:17130400-17131000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:17130400-17131200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:17130400-17131200	Enhancers	NH-A	brain
39	chr7:17130400-17131200	Enhancers	Osteobl	bone
40	chr7:17130400-17136600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:17130600-17131000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:17130600-17131000	Enhancers	HMEC	breast
43	chr7:17130600-17131200	Enhancers	Hela-S3	cervix
44	chr7:17130600-17131200	Enhancers	NHLF	lung
45	chr7:17130800-17131200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:17130800-17131200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:17130800-17134600	Weak transcription	A549	lung
48	chr7:17131000-17131200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:17131000-17133400	Weak transcription	HMEC	breast
50	chr7:17131000-17133800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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