Variant report

Variant	nsv887356
Chromosome Location	chr7:4321571-4359054
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
2	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
3	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
4	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
5	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
6	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
7	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
8	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
9	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
10	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
11	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
12	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:

No data

Extended variants
information (count: 615 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10259929	chr7:4321571-4321572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572983200	chr7:4321621-4321622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539692199	chr7:4321640-4321641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541946992	chr7:4321653-4321654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78812016	chr7:4321671-4321672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575199071	chr7:4321736-4321737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144512439	chr7:4321781-4321782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564359064	chr7:4321785-4321786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10260179	chr7:4321786-4321787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546764863	chr7:4321787-4321788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560425199	chr7:4321788-4321789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1201852	chr7:4321792-4321793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570233426	chr7:4321800-4321801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11505513	chr7:4321865-4321866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371713273	chr7:4321916-4321917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568991608	chr7:4321920-4321921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537811014	chr7:4321928-4321929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551095986	chr7:4321973-4321974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537655528	chr7:4321983-4321984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571113789	chr7:4321990-4321991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35793537	chr7:4321991-4321992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369040476	chr7:4322007-4322008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553127296	chr7:4322041-4322042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570745443	chr7:4322059-4322060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376024165	chr7:4322070-4322071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573808497	chr7:4322071-4322072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535666615	chr7:4322082-4322083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554994277	chr7:4322104-4322105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373692282	chr7:4322110-4322111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377683147	chr7:4322117-4322118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557852671	chr7:4322120-4322121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145071479	chr7:4322130-4322131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573394829	chr7:4322145-4322146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544590905	chr7:4322149-4322150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564363936	chr7:4322213-4322214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369700517	chr7:4322248-4322249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540188143	chr7:4322258-4322259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560471305	chr7:4322260-4322261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534608145	chr7:4322272-4322273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529066530	chr7:4322292-4322293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566826677	chr7:4322337-4322338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552733359	chr7:4322343-4322344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117658019	chr7:4322376-4322377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185690418	chr7:4322380-4322381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571180840	chr7:4322384-4322385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10277408	chr7:4322395-4322396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575769977	chr7:4322399-4322400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377446903	chr7:4322448-4322449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563265225	chr7:4322526-4322527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370280386	chr7:4322530-4322531	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4314400-4322200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:4321000-4322600	Enhancers	HSMMtube	muscle
3	chr7:4321200-4321600	Enhancers	Fetal Brain Female	brain
4	chr7:4321200-4321600	Enhancers	Fetal Intestine Small	intestine
5	chr7:4321200-4322600	Enhancers	Fetal Brain Male	brain
6	chr7:4321400-4321600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:4321400-4322600	Enhancers	A549	lung
8	chr7:4322200-4322600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:4322200-4322600	Enhancers	Gastric	stomach
10	chr7:4322200-4322800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:4322400-4322800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:4322400-4322800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:4322400-4322800	Enhancers	NHEK	skin
14	chr7:4322600-4325800	Weak transcription	Fetal Brain Male	brain
15	chr7:4324400-4324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:4324800-4325800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:4325600-4326000	Enhancers	Fetal Lung	lung
18	chr7:4325600-4326400	Enhancers	Fetal Stomach	stomach
19	chr7:4325800-4326400	ZNF genes & repeats	Fetal Brain Male	brain
20	chr7:4326000-4326400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr7:4326000-4326400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:4326000-4326400	Flanking Active TSS	Fetal Lung	lung
23	chr7:4326200-4326400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:4326200-4326600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr7:4326400-4326600	Active TSS	Fetal Lung	lung
26	chr7:4336800-4338200	Enhancers	Fetal Brain Male	brain
27	chr7:4342600-4343200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:4346000-4346600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:4346200-4346400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr7:4346200-4347400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr7:4346400-4347600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:4346600-4347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:4347000-4347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr7:4347000-4347800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:4347200-4347400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
36	chr7:4347200-4347800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr7:4347400-4347600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
38	chr7:4347400-4347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:4347400-4348200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:4347600-4347800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr7:4347800-4348000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:4347800-4348000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:4348000-4349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:4348200-4349200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:4349200-4349400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:4349200-4349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:4349600-4349800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:4349800-4350000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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