Variant report

Variant	nsv538672
Chromosome Location	chr7:3506255-3556395
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

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

No data

Extended variants
information (count: 2985 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2985 , 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	rs552767496	chr7:3506262-3506263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566129256	chr7:3506272-3506273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528215081	chr7:3506285-3506286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145721850	chr7:3506294-3506295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186459289	chr7:3506310-3506311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140477096	chr7:3506356-3506357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369307487	chr7:3506380-3506381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550706736	chr7:3506405-3506406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373520202	chr7:3506413-3506414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191308065	chr7:3506419-3506420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183107137	chr7:3506424-3506425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539330411	chr7:3506471-3506472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145631661	chr7:3506481-3506482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573064167	chr7:3506512-3506513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541540999	chr7:3506529-3506530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371087227	chr7:3506552-3506553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555060763	chr7:3506560-3506561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187836496	chr7:3506588-3506589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540861925	chr7:3506599-3506600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563513576	chr7:3506608-3506609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11269597	chr7:3506611-3506612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201940924	chr7:3506612-3506613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59311191	chr7:3506613-3506614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73671835	chr7:3506659-3506660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55646958	chr7:3506661-3506662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59335723	chr7:3506666-3506667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144352086	chr7:3506722-3506723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532876482	chr7:3506802-3506803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138494449	chr7:3506827-3506828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77146647	chr7:3506852-3506853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543775283	chr7:3506895-3506896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185104347	chr7:3506914-3506915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368793211	chr7:3506934-3506935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190399593	chr7:3506935-3506936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116380853	chr7:3506947-3506948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570336791	chr7:3507002-3507003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539761520	chr7:3507010-3507011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570064813	chr7:3507076-3507077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552945856	chr7:3507077-3507078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17374391	chr7:3507092-3507093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs6969524	chr7:3507109-3507110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11325598	chr7:3507165-3507166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555124157	chr7:3507176-3507177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192697773	chr7:3507197-3507198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184188692	chr7:3507198-3507199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557369906	chr7:3507219-3507220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577168303	chr7:3507258-3507259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566802045	chr7:3507265-3507266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546477463	chr7:3507274-3507275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188129597	chr7:3507297-3507298	Weak transcription	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:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3480000-3508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
3	chr7:3496000-3507000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:3502000-3521200	Weak transcription	Aorta	Aorta
5	chr7:3504200-3507400	Weak transcription	Fetal Lung	lung
6	chr7:3504800-3511600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:3506000-3506400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr7:3506000-3510400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:3506200-3521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3506400-3510200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:3507400-3508400	Enhancers	Fetal Lung	lung
12	chr7:3508400-3509000	Weak transcription	Fetal Lung	lung
13	chr7:3509000-3509600	Enhancers	Fetal Lung	lung
14	chr7:3509200-3509400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:3509200-3510000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:3509200-3510400	Enhancers	Primary T cells from cord blood	blood
17	chr7:3509400-3511400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:3509600-3510000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:3509600-3510600	Weak transcription	Fetal Lung	lung
20	chr7:3510000-3510400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:3510000-3511000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:3510200-3512200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr7:3510400-3511000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:3510400-3511000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr7:3510400-3511200	Weak transcription	Primary T cells from cord blood	blood
26	chr7:3510600-3511000	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:3510600-3511800	Enhancers	Fetal Lung	lung
28	chr7:3511000-3511600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:3511000-3511800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:3511200-3511800	Enhancers	Primary T cells from cord blood	blood
31	chr7:3511200-3512000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:3511200-3513000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:3511400-3511800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:3511400-3512600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:3511400-3512800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:3511600-3511800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:3511600-3511800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:3511600-3512000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:3511600-3512800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr7:3511800-3512000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:3511800-3512000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:3511800-3512400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:3512000-3513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:3512200-3515400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:3512400-3512600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:3512400-3512800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr7:3512400-3512800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr7:3512800-3522400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:3513000-3522000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:3513200-3513800	Enhancers	HepG2	liver

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