Variant report

Variant	nsv1030469
Chromosome Location	chr7:3521036-3554820
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:0)
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	chr7:3522949..3523470-chr7:3687761..3688597,2	MCF-7	breast:
2	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
3	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
4	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
5	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
6	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
7	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
8	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
9	chr7:3521340..3522302-chr7:4671144..4671918,2	MCF-7	breast:
10	chr7:3521755..3523053-chr7:3688631..3689551,7	MCF-7	breast:
11	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
12	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
13	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
14	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
15	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
16	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:

No data

Extended variants
information (count: 2038 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2038 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181182676	chr7:3521037-3521038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377431360	chr7:3521041-3521042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564863518	chr7:3521049-3521050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527372751	chr7:3521054-3521055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370324918	chr7:3521076-3521077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373215995	chr7:3521087-3521088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566875886	chr7:3521121-3521122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185623217	chr7:3521125-3521126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59663820	chr7:3521160-3521161	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs549632682	chr7:3521182-3521183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62437757	chr7:3521197-3521198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538486725	chr7:3521200-3521201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190960024	chr7:3521209-3521210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147245192	chr7:3521215-3521216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373338784	chr7:3521226-3521227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79124129	chr7:3521245-3521246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535601533	chr7:3521251-3521252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180773475	chr7:3521262-3521263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556922659	chr7:3521274-3521275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377499724	chr7:3521285-3521286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565472710	chr7:3521306-3521307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527399893	chr7:3521447-3521448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540686332	chr7:3521448-3521449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560568219	chr7:3521453-3521454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528211207	chr7:3521461-3521462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186158052	chr7:3521466-3521467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201431047	chr7:3521467-3521468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549347013	chr7:3521486-3521487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73038535	chr7:3521492-3521493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73038536	chr7:3521494-3521495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569888565	chr7:3521502-3521503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370870525	chr7:3521522-3521523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532431644	chr7:3521528-3521529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372350289	chr7:3521532-3521533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191830967	chr7:3521534-3521535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552087336	chr7:3521536-3521537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565825268	chr7:3521553-3521554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534302396	chr7:3521566-3521567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10242223	chr7:3521573-3521574	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs567740156	chr7:3521617-3521618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147471488	chr7:3521627-3521628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564545340	chr7:3521630-3521631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574103361	chr7:3521632-3521633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141064465	chr7:3521638-3521639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556511182	chr7:3521653-3521654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs60021973	chr7:3521658-3521659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397963720	chr7:3521663-3521664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9648355	chr7:3521676-3521677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10499336	chr7:3521733-3521734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs58635351	chr7:3521742-3521743	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
2	chr7:3502000-3521200	Weak transcription	Aorta	Aorta
3	chr7:3512800-3522400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:3513000-3522000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:3516000-3522200	Weak transcription	Fetal Lung	lung
6	chr7:3516600-3522200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:3521000-3521200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3521000-3521200	Enhancers	Spleen	Spleen
9	chr7:3521000-3521600	Enhancers	HepG2	liver
10	chr7:3521000-3522400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:3521200-3521400	Enhancers	Aorta	Aorta
12	chr7:3521200-3522200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:3521400-3521800	Weak transcription	Spleen	Spleen
14	chr7:3521400-3528400	Weak transcription	Aorta	Aorta
15	chr7:3521600-3522000	Weak transcription	HepG2	liver
16	chr7:3522000-3522600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:3522000-3522600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:3522000-3522600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:3522000-3522600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:3522000-3522600	Enhancers	HepG2	liver
21	chr7:3522200-3522400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:3522200-3522400	Enhancers	Fetal Lung	lung
23	chr7:3522200-3522400	Enhancers	Spleen	Spleen
24	chr7:3522200-3522600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:3522200-3522600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:3522200-3522600	Enhancers	A549	lung
27	chr7:3522200-3523400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:3522400-3522600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr7:3523400-3529200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:3526600-3526800	Enhancers	Pancreas	Pancrea
31	chr7:3526800-3527200	Weak transcription	Pancreas	Pancrea
32	chr7:3527000-3527800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:3527200-3527400	Enhancers	Pancreas	Pancrea
34	chr7:3527400-3528400	Weak transcription	Pancreas	Pancrea
35	chr7:3528400-3528600	ZNF genes & repeats	Aorta	Aorta
36	chr7:3528400-3528800	Enhancers	Pancreas	Pancrea
37	chr7:3528600-3535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3528600-3535600	Weak transcription	Aorta	Aorta
39	chr7:3528800-3532200	Weak transcription	Pancreas	Pancrea
40	chr7:3529200-3529800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:3529800-3533000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:3532200-3532400	Enhancers	Pancreas	Pancrea
43	chr7:3532200-3533200	Enhancers	HUVEC	blood vessel
44	chr7:3532400-3532800	Weak transcription	Pancreas	Pancrea
45	chr7:3532800-3533000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:3532800-3533000	Enhancers	Pancreas	Pancrea
47	chr7:3532800-3533400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:3532800-3533600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:3532800-3533600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:3532800-3533600	Enhancers	HepG2	liver

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