Variant report

Variant	nsv605971
Chromosome Location	chr7:4382159-4530940
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:13)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
2	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
3	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:
4	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
5	chr7:4495018..4497948-chr7:4500566..4502684,3	K562	blood:
6	chr17:57920568..57922934-chr7:4466757..4469576,2	MCF-7	breast:
7	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
8	chr7:4143002..4143685-chr7:4518859..4519662,3	MCF-7	breast:
9	chr7:4074370..4074950-chr7:4518765..4519624,3	MCF-7	breast:
10	chr15:101629167..101629860-chr7:4485245..4486227,2	MCF-7	breast:
11	chr7:4419960..4422829-chr7:4435237..4437889,2	MCF-7	breast:
12	chr7:4195210..4197944-chr7:4502921..4505536,2	MCF-7	breast:
13	chr7:4401235..4402088-chr7:4518606..4519411,2	MCF-7	breast:

(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-5	chr7:4472597-4475543	NONHSAT118861
3	lnc-RADIL-4	chr7:4509330-4509430	NONHSAT118863
4	lnc-RADIL-3	chr7:4455727-4456136	XLOC_006344
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-4	chr7:4513174-4513309	NONHSAT118863
8	lnc-RADIL-3	chr7:4452562-4452778	XLOC_006344
9	lnc-FOXK1-1	chr7:4473994-4474153	XLOC_005972

No data

Variant related genes	Relation type
VEGFA	miRNA target sites

Extended variants
information (count: 3548 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:3548 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143212230	chr7:4382802-4382803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551053566	chr7:4382805-4382806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117944875	chr7:4382817-4382818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573247797	chr7:4382821-4382822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145234060	chr7:4382822-4382823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554110982	chr7:4382829-4382830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368499787	chr7:4382857-4382858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117356374	chr7:4382873-4382874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71527487	chr7:4382884-4382885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555443239	chr7:4382925-4382926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372953475	chr7:4382943-4382944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146410908	chr7:4382951-4382952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141118940	chr7:4382953-4382954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564211793	chr7:4382957-4382958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150159680	chr7:4383000-4383001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540054238	chr7:4383039-4383040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560338566	chr7:4383067-4383068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529087751	chr7:4383068-4383069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74347256	chr7:4383086-4383087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562594113	chr7:4383140-4383141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572380208	chr7:4383156-4383157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376171695	chr7:4383163-4383164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546461376	chr7:4383165-4383166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114929849	chr7:4383166-4383167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138598199	chr7:4383185-4383186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533720649	chr7:4383226-4383227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546987899	chr7:4383230-4383231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567005031	chr7:4383252-4383253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183359856	chr7:4383253-4383254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555405327	chr7:4383280-4383281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17134703	chr7:4383344-4383345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188920993	chr7:4383345-4383346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531940374	chr7:4383349-4383350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577853871	chr7:4383369-4383370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540483540	chr7:4383378-4383379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553785599	chr7:4383399-4383400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573853417	chr7:4383438-4383439	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369419983	chr7:4383444-4383445	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201751839	chr7:4383450-4383451	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562274677	chr7:4383455-4383456	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149291776	chr7:4383465-4383466	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567168609	chr7:4383483-4383484	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138594820	chr7:4383485-4383486	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143314113	chr7:4383495-4383496	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531479794	chr7:4383499-4383500	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139129719	chr7:4383546-4383547	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192926826	chr7:4383548-4383549	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564856535	chr7:4383550-4383551	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527289079	chr7:4383552-4383553	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547241537	chr7:4383598-4383599	Active TSS Flanking Active TSS 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:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4382800-4384400	Enhancers	HepG2	liver
2	chr7:4383200-4383400	Enhancers	Fetal Intestine Small	intestine
3	chr7:4383400-4383600	Flanking Active TSS	Fetal Intestine Small	intestine
4	chr7:4383400-4384000	Active TSS	Fetal Intestine Large	intestine
5	chr7:4383600-4384000	Active TSS	Fetal Intestine Small	intestine
6	chr7:4384000-4384200	Enhancers	Fetal Intestine Large	intestine
7	chr7:4384400-4384800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:4397600-4398000	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:4397600-4398200	Enhancers	Fetal Muscle Leg	muscle
10	chr7:4397800-4398000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:4403000-4403600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:4403600-4404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:4404400-4406600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:4406600-4407200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:4408000-4410200	Weak transcription	Aorta	Aorta
16	chr7:4410200-4410800	ZNF genes & repeats	Aorta	Aorta
17	chr7:4410400-4410800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:4425800-4426200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:4442800-4443200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:4442800-4443200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr7:4445600-4446600	Enhancers	HepG2	liver
22	chr7:4446200-4446600	Enhancers	Esophagus	oesophagus
23	chr7:4452400-4452800	Enhancers	Fetal Brain Male	brain
24	chr7:4452800-4456000	Weak transcription	Fetal Brain Male	brain
25	chr7:4455000-4457600	Enhancers	Fetal Intestine Small	intestine
26	chr7:4455400-4455800	Enhancers	Duodenum Mucosa	Duodenum
27	chr7:4455600-4455800	Enhancers	Brain Substantia Nigra	brain
28	chr7:4455600-4455800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:4455600-4455800	Enhancers	Fetal Intestine Large	intestine
30	chr7:4455600-4456600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:4455800-4456000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:4455800-4456000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr7:4455800-4456000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:4455800-4456000	Active TSS	Adipose Nuclei	Adipose
35	chr7:4455800-4456000	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr7:4455800-4456000	Active TSS	Fetal Brain Female	brain
37	chr7:4455800-4456000	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr7:4455800-4456000	Enhancers	Fetal Stomach	stomach
39	chr7:4455800-4456000	Enhancers	HepG2	liver
40	chr7:4455800-4456200	Active TSS	Aorta	Aorta
41	chr7:4455800-4456200	Active TSS	Brain Germinal Matrix	brain
42	chr7:4455800-4456200	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr7:4455800-4456200	Active TSS	Fetal Lung	lung
44	chr7:4455800-4456400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:4455800-4456400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr7:4455800-4456400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:4455800-4456400	Active TSS	Brain Hippocampus Middle	brain
48	chr7:4455800-4456400	Active TSS	Colon Smooth Muscle	Colon
49	chr7:4455800-4456400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr7:4455800-4456400	Active TSS	A549	lung

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