Variant report

Variant	nsv517675
Chromosome Location	chr7:4293524-4421616
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
2	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
3	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
4	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
5	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
6	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
7	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
8	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
9	chr7:4309758..4311351-chr7:4312992..4314606,2	K562	blood:
10	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:
11	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
12	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
13	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
14	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
15	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
16	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:
17	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
18	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
19	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
20	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
21	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
22	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
23	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
24	chr7:4311748..4314192-chr7:4314238..4316719,2	MCF-7	breast:
25	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
26	chr7:4309076..4311036-chr7:4311322..4313505,2	MCF-7	breast:

No data

Extended variants
information (count: 2972 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2972 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13226493	chr7:4293524-4293525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557002368	chr7:4293528-4293529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141462976	chr7:4293578-4293579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12667290	chr7:4293624-4293625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370013252	chr7:4293701-4293702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150840131	chr7:4293727-4293728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535158037	chr7:4293757-4293758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138149067	chr7:4293758-4293759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552874503	chr7:4293764-4293765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558244826	chr7:4293814-4293815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558881076	chr7:4293839-4293840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574599658	chr7:4293864-4293865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546456550	chr7:4293898-4293899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187349148	chr7:4293925-4293926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543686099	chr7:4293946-4293947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563930803	chr7:4293967-4293968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10951486	chr7:4293976-4293977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs75692280	chr7:4293980-4293981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559738723	chr7:4294000-4294001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192917350	chr7:4294006-4294007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184734528	chr7:4294024-4294025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561868436	chr7:4294131-4294132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530710161	chr7:4294141-4294142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375737728	chr7:4294198-4294199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568398847	chr7:4294229-4294230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372744639	chr7:4294234-4294235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58826285	chr7:4294237-4294238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570640781	chr7:4294239-4294240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539103096	chr7:4294258-4294259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200214396	chr7:4294279-4294280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145892629	chr7:4294282-4294283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74846447	chr7:4294303-4294304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142734789	chr7:4294311-4294312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373971199	chr7:4294457-4294458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535118708	chr7:4294490-4294491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143415547	chr7:4294517-4294518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555224148	chr7:4294543-4294544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575008112	chr7:4294549-4294550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7781965	chr7:4294576-4294577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369629531	chr7:4294582-4294583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557235218	chr7:4294594-4294595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146157085	chr7:4294629-4294630	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs140172017	chr7:4294678-4294679	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143826301	chr7:4294698-4294699	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144783386	chr7:4294738-4294739	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148550047	chr7:4294791-4294792	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79691537	chr7:4294808-4294809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs117414911	chr7:4294832-4294833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79179169	chr7:4294883-4294884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563888988	chr7:4294976-4294977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
2	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4287600-4304200	Weak transcription	Gastric	stomach
4	chr7:4288000-4300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:4288600-4295600	Weak transcription	Fetal Brain Male	brain
6	chr7:4288600-4296000	Weak transcription	Fetal Brain Female	brain
7	chr7:4288600-4296000	Weak transcription	Fetal Kidney	kidney
8	chr7:4288600-4297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
10	chr7:4291200-4295800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
12	chr7:4291600-4295800	Weak transcription	Fetal Lung	lung
13	chr7:4294600-4294800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr7:4294600-4298200	Enhancers	Fetal Stomach	stomach
15	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:4295600-4297600	Enhancers	Fetal Brain Male	brain
17	chr7:4295800-4296000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr7:4295800-4296200	Enhancers	Colon Smooth Muscle	Colon
19	chr7:4295800-4297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:4295800-4297400	Enhancers	Fetal Lung	lung
21	chr7:4295800-4297600	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:4296000-4296200	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:4296000-4296800	Enhancers	Brain Germinal Matrix	brain
24	chr7:4296000-4296800	Enhancers	Fetal Kidney	kidney
25	chr7:4296000-4297000	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:4296000-4297000	Enhancers	Fetal Brain Female	brain
27	chr7:4296200-4296600	Enhancers	Adipose Nuclei	Adipose
28	chr7:4296200-4296600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr7:4296200-4297000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:4296200-4297000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr7:4296200-4297200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr7:4296200-4297400	Enhancers	Brain Hippocampus Middle	brain
33	chr7:4296400-4296800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:4296600-4297800	Enhancers	Colon Smooth Muscle	Colon
35	chr7:4296800-4300600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:4297000-4297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:4297000-4297400	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:4297000-4298200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:4297200-4297600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:4297200-4300800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:4297400-4298000	ZNF genes & repeats	Fetal Lung	lung
42	chr7:4297400-4300200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:4297600-4300600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:4297800-4298200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:4297800-4300400	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:4298000-4300600	Weak transcription	Fetal Lung	lung
47	chr7:4298200-4299400	Weak transcription	Fetal Stomach	stomach
48	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:4299200-4299400	Enhancers	HSMMtube	muscle
50	chr7:4299400-4299600	Enhancers	Fetal Stomach	stomach

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