Variant report

Variant	nsv1030818
Chromosome Location	chr7:4331775-4518941
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:9)
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	chr17:57920568..57922934-chr7:4466757..4469576,2	MCF-7	breast:
2	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
3	chr7:4143002..4143685-chr7:4518859..4519662,3	MCF-7	breast:
4	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
5	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
6	chr7:4195210..4197944-chr7:4502921..4505536,2	MCF-7	breast:
7	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
8	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
9	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
10	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
11	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
12	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
13	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
14	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
15	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
16	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
17	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
18	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
19	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
20	chr15:101629167..101629860-chr7:4485245..4486227,2	MCF-7	breast:
21	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
22	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
23	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDK1-1	chr7:4440444-4440679	l_3355_chr7:4440443-4482707_testes
2	lnc-RADIL-4	chr7:4509330-4509430	NONHSAT118863
3	lnc-FOXK1-1	chr7:4473994-4474153	XLOC_005972
4	lnc-RADIL-4	chr7:4513174-4513309	NONHSAT118863
5	lnc-SDK1-1	chr7:4482317-4482707	l_3355_chr7:4440443-4482707_testes
6	lnc-FOXK1-1	chr7:4515791-4518319	XLOC_005972
7	lnc-RADIL-3	chr7:4455727-4456136	XLOC_006344
8	lnc-RADIL-3	chr7:4452562-4452778	XLOC_006344
9	lnc-RADIL-5	chr7:4472597-4475543	NONHSAT118861

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 3900 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:3900 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143752314	chr7:4336818-4336819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562040955	chr7:4336868-4336869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369847713	chr7:4336911-4336912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367925292	chr7:4336932-4336933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534153788	chr7:4336938-4336939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192105698	chr7:4336968-4336969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150969621	chr7:4336988-4336989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140771637	chr7:4337012-4337013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567064053	chr7:4337044-4337045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532645791	chr7:4337048-4337049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144634039	chr7:4337062-4337063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11773770	chr7:4337070-4337071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200394245	chr7:4337083-4337084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537032666	chr7:4337092-4337093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538102173	chr7:4337093-4337094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71527484	chr7:4337110-4337111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555018737	chr7:4337155-4337156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138538660	chr7:4337222-4337223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549105556	chr7:4337264-4337265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571370630	chr7:4337268-4337269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533754745	chr7:4337270-4337271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372093953	chr7:4337311-4337312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58468014	chr7:4337316-4337317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371984713	chr7:4337332-4337333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573447946	chr7:4337349-4337350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182780309	chr7:4337351-4337352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567416826	chr7:4337360-4337361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565696649	chr7:4337369-4337370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs62451096	chr7:4337402-4337403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10226645	chr7:4337405-4337406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56142868	chr7:4337455-4337456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141494861	chr7:4337478-4337479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77501611	chr7:4337479-4337480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116356095	chr7:4337484-4337485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560616385	chr7:4337504-4337505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529444425	chr7:4337533-4337534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145597571	chr7:4337535-4337536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562840052	chr7:4337548-4337549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531739662	chr7:4337550-4337551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551608613	chr7:4337568-4337569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571489072	chr7:4337606-4337607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200530230	chr7:4337616-4337617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188152770	chr7:4337637-4337638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547302440	chr7:4337673-4337674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369232770	chr7:4337688-4337689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138076629	chr7:4337693-4337694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192387985	chr7:4337694-4337695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575592720	chr7:4337728-4337729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553247221	chr7:4337755-4337756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs149523361	chr7:4337764-4337765	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4336800-4338200	Enhancers	Fetal Brain Male	brain
2	chr7:4342600-4343200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr7:4346000-4346600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:4346200-4346400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr7:4346200-4347400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr7:4346400-4347600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:4346600-4347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:4347000-4347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr7:4347000-4347800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:4347200-4347400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
11	chr7:4347200-4347800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr7:4347400-4347600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
13	chr7:4347400-4347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:4347400-4348200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:4347600-4347800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr7:4347800-4348000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:4347800-4348000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:4348000-4349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:4348200-4349200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:4349200-4349400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4349200-4349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:4349600-4349800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:4349800-4350000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:4365200-4366200	Enhancers	HepG2	liver
25	chr7:4376600-4378200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:4377600-4378000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:4377800-4378000	Bivalent Enhancer	HepG2	liver
28	chr7:4378000-4378200	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr7:4378200-4378400	Bivalent Enhancer	HepG2	liver
30	chr7:4382800-4384400	Enhancers	HepG2	liver
31	chr7:4383200-4383400	Enhancers	Fetal Intestine Small	intestine
32	chr7:4383400-4383600	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr7:4383400-4384000	Active TSS	Fetal Intestine Large	intestine
34	chr7:4383600-4384000	Active TSS	Fetal Intestine Small	intestine
35	chr7:4384000-4384200	Enhancers	Fetal Intestine Large	intestine
36	chr7:4384400-4384800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:4397600-4398000	Enhancers	Fetal Muscle Trunk	muscle
38	chr7:4397600-4398200	Enhancers	Fetal Muscle Leg	muscle
39	chr7:4397800-4398000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:4403000-4403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr7:4403600-4404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:4404400-4406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:4406600-4407200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:4408000-4410200	Weak transcription	Aorta	Aorta
45	chr7:4410200-4410800	ZNF genes & repeats	Aorta	Aorta
46	chr7:4410400-4410800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:4425800-4426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:4442800-4443200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:4442800-4443200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
50	chr7:4445600-4446600	Enhancers	HepG2	liver

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