Variant report

Variant	nsv522909
Chromosome Location	chr7:4324730-4483857
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:6)
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	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
2	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
3	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
4	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
5	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
6	chr17:57920568..57922934-chr7:4466757..4469576,2	MCF-7	breast:
7	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
8	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
9	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
10	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
11	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
12	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
13	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
14	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
15	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
16	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
17	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RADIL-3	chr7:4455727-4456136	XLOC_006344
2	lnc-SDK1-1	chr7:4440444-4440679	l_3355_chr7:4440443-4482707_testes
3	lnc-FOXK1-1	chr7:4473994-4474153	XLOC_005972
4	lnc-RADIL-3	chr7:4452562-4452778	XLOC_006344
5	lnc-SDK1-1	chr7:4482317-4482707	l_3355_chr7:4440443-4482707_testes
6	lnc-RADIL-5	chr7:4472597-4475543	NONHSAT118861

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 2665 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2665 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11762889	chr7:4324730-4324731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545488060	chr7:4324733-4324734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4720225	chr7:4324736-4324737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572821735	chr7:4324737-4324738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114305098	chr7:4324751-4324752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4720226	chr7:4324762-4324763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573568765	chr7:4324785-4324786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568804742	chr7:4324802-4324803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74775865	chr7:4324854-4324855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555769356	chr7:4324891-4324892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573904531	chr7:4324906-4324907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532498059	chr7:4324929-4324930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376022806	chr7:4324943-4324944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375432459	chr7:4324946-4324947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565636889	chr7:4324947-4324948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528414413	chr7:4324984-4324985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78340676	chr7:4325003-4325004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567945793	chr7:4325077-4325078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140316070	chr7:4325100-4325101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367798864	chr7:4325128-4325129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184674610	chr7:4325176-4325177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539411880	chr7:4325202-4325203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144188487	chr7:4325215-4325216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35419640	chr7:4325216-4325217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572756319	chr7:4325255-4325256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371510376	chr7:4325256-4325257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554447838	chr7:4325266-4325267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112745064	chr7:4325277-4325278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541780676	chr7:4325290-4325291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555318295	chr7:4325302-4325303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144641639	chr7:4325305-4325306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543657451	chr7:4325314-4325315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563761177	chr7:4325323-4325324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577306622	chr7:4325340-4325341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148481447	chr7:4325374-4325375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559348100	chr7:4325377-4325378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528351173	chr7:4325378-4325379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189076974	chr7:4325403-4325404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201480444	chr7:4325453-4325454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530693420	chr7:4325462-4325463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572914806	chr7:4325486-4325487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550545116	chr7:4325487-4325488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181464520	chr7:4325504-4325505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113548476	chr7:4325572-4325573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59946033	chr7:4325590-4325591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376901950	chr7:4325628-4325629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566442283	chr7:4325666-4325667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553166827	chr7:4325695-4325696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115513997	chr7:4325746-4325747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578082993	chr7:4325788-4325789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4322600-4325800	Weak transcription	Fetal Brain Male	brain
2	chr7:4324400-4324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4324800-4325800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:4325600-4326000	Enhancers	Fetal Lung	lung
5	chr7:4325600-4326400	Enhancers	Fetal Stomach	stomach
6	chr7:4325800-4326400	ZNF genes & repeats	Fetal Brain Male	brain
7	chr7:4326000-4326400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:4326000-4326400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:4326000-4326400	Flanking Active TSS	Fetal Lung	lung
10	chr7:4326200-4326400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:4326200-4326600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:4326400-4326600	Active TSS	Fetal Lung	lung
13	chr7:4336800-4338200	Enhancers	Fetal Brain Male	brain
14	chr7:4342600-4343200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:4346000-4346600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:4346200-4346400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr7:4346200-4347400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr7:4346400-4347600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:4346600-4347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:4347000-4347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr7:4347000-4347800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:4347200-4347400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
23	chr7:4347200-4347800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
24	chr7:4347400-4347600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
25	chr7:4347400-4347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:4347400-4348200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:4347600-4347800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr7:4347800-4348000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:4347800-4348000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:4348000-4349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:4348200-4349200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:4349200-4349400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:4349200-4349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:4349600-4349800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:4349800-4350000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:4365200-4366200	Enhancers	HepG2	liver
37	chr7:4376600-4378200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:4377600-4378000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:4377800-4378000	Bivalent Enhancer	HepG2	liver
40	chr7:4378000-4378200	Flanking Bivalent TSS/Enh	HepG2	liver
41	chr7:4378200-4378400	Bivalent Enhancer	HepG2	liver
42	chr7:4382800-4384400	Enhancers	HepG2	liver
43	chr7:4383200-4383400	Enhancers	Fetal Intestine Small	intestine
44	chr7:4383400-4383600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr7:4383400-4384000	Active TSS	Fetal Intestine Large	intestine
46	chr7:4383600-4384000	Active TSS	Fetal Intestine Small	intestine
47	chr7:4384000-4384200	Enhancers	Fetal Intestine Large	intestine
48	chr7:4384400-4384800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4397600-4398000	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:4397600-4398200	Enhancers	Fetal Muscle Leg	muscle

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