Variant report

Variant	nsv869723
Chromosome Location	chr7:3482682-3566293
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
2	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
3	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
4	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
5	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
6	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
7	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
8	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
9	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
10	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
11	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
12	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
13	chr7:3521340..3522302-chr7:4671144..4671918,2	MCF-7	breast:
14	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
15	chr7:3522949..3523470-chr7:3687761..3688597,2	MCF-7	breast:
16	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
17	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
18	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
19	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
20	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
21	chr7:3521755..3523053-chr7:3688631..3689551,7	MCF-7	breast:
22	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
23	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:

No data

Extended variants
information (count: 4970 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4970 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4096519	chr7:3482691-3482692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570419793	chr7:3482697-3482698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11348477	chr7:3482698-3482699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11350671	chr7:3482710-3482711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73293159	chr7:3482771-3482772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568142315	chr7:3482775-3482776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566298718	chr7:3482783-3482784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576255182	chr7:3482794-3482795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17133368	chr7:3482804-3482805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs17741730	chr7:3482808-3482809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs145675887	chr7:3482870-3482871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374389198	chr7:3482877-3482878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537091123	chr7:3482899-3482900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6415253	chr7:3482926-3482927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78047253	chr7:3482930-3482931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546484767	chr7:3482932-3482933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112620512	chr7:3482961-3482962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372445495	chr7:3482970-3482971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74842200	chr7:3482989-3482990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561670221	chr7:3483004-3483005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530583636	chr7:3483008-3483009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6415254	chr7:3483028-3483029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76087886	chr7:3483036-3483037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147159318	chr7:3483101-3483102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533075633	chr7:3483122-3483123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73293166	chr7:3483128-3483129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184563771	chr7:3483145-3483146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189401137	chr7:3483147-3483148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549151919	chr7:3483173-3483174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568471585	chr7:3483193-3483194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375116167	chr7:3483210-3483211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537506757	chr7:3483265-3483266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543464471	chr7:3483267-3483268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570891803	chr7:3483269-3483270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138676879	chr7:3483398-3483399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73293171	chr7:3483429-3483430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78403423	chr7:3483444-3483445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573473106	chr7:3483477-3483478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142718627	chr7:3483502-3483503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10254665	chr7:3483504-3483505	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1882431	chr7:3483517-3483518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543871971	chr7:3483526-3483527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373099420	chr7:3483529-3483530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563823802	chr7:3483543-3483544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181971211	chr7:3483565-3483566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539841817	chr7:3483585-3483586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185805426	chr7:3483592-3483593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529146150	chr7:3483611-3483612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548910304	chr7:3483615-3483616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561747730	chr7:3483620-3483621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Nasopharyngeal cancer	20548289	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3470400-3482800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:3479400-3484400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:3479600-3492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3479800-3483600	Weak transcription	NHEK	skin
5	chr7:3480000-3485600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:3480000-3508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:3480800-3485200	Weak transcription	HSMM	muscle
8	chr7:3483200-3484000	Enhancers	Fetal Lung	lung
9	chr7:3483400-3483800	Enhancers	Brain Germinal Matrix	brain
10	chr7:3485200-3486000	Strong transcription	HSMM	muscle
11	chr7:3485600-3486000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr7:3486000-3486400	Weak transcription	HSMM	muscle
13	chr7:3486000-3495200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr7:3486400-3486800	Enhancers	HSMM	muscle
15	chr7:3486400-3487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:3486800-3487600	Weak transcription	HSMM	muscle
17	chr7:3487600-3489000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:3487600-3489000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:3488400-3488800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:3488400-3489000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:3488400-3489000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:3488400-3489000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:3488400-3489000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:3488600-3489000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr7:3488600-3489000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:3488600-3489000	Enhancers	Fetal Lung	lung
27	chr7:3489000-3490800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:3489000-3492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:3489000-3495600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:3489000-3496200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:3489000-3496400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:3489000-3496400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr7:3490800-3491000	Enhancers	Aorta	Aorta
34	chr7:3490800-3491200	Enhancers	Pancreas	Pancrea
35	chr7:3490800-3491600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:3491000-3496400	Weak transcription	Aorta	Aorta
37	chr7:3491200-3491400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:3491200-3491400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
40	chr7:3491400-3492000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr7:3491800-3492600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:3492000-3492200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr7:3492000-3494200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:3492200-3493000	Weak transcription	HSMM	muscle
45	chr7:3492200-3495000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:3492400-3492800	Enhancers	Spleen	Spleen
47	chr7:3492600-3493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:3493000-3493600	Enhancers	HSMM	muscle
49	chr7:3493200-3493400	Enhancers	Fetal Muscle Leg	muscle
50	chr7:3493400-3496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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