Variant report

Variant	nsv887355
Chromosome Location	chr7:4318408-4401148
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:0)
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	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
2	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
3	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
4	chr7:4332008..4333742-chr7:4348172..4350936,2	K562	blood:
5	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
6	chr7:4345022..4347307-chr7:4350173..4352798,2	K562	blood:
7	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
8	chr7:4343570..4345157-chr7:4346370..4348768,2	MCF-7	breast:
9	chr7:4340856..4343188-chr7:4346327..4349028,2	MCF-7	breast:
10	chr7:4398858..4401827-chr7:4402346..4405270,2	MCF-7	breast:
11	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:
12	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:
13	chr7:4343233..4346008-chr7:4359016..4361324,2	MCF-7	breast:

No data

Extended variants
information (count: 1073 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1073 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10247325	chr7:4318408-4318409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561061582	chr7:4318428-4318429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201734634	chr7:4318431-4318432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386709566	chr7:4318433-4318434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529609147	chr7:4318434-4318435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs118142495	chr7:4318438-4318439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569161598	chr7:4318442-4318443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10260721	chr7:4318444-4318445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190388839	chr7:4318460-4318461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115363197	chr7:4318461-4318462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565820926	chr7:4318465-4318466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553939672	chr7:4318481-4318482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79823316	chr7:4318485-4318486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145010529	chr7:4318487-4318488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147653986	chr7:4318497-4318498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542079902	chr7:4318504-4318505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545009559	chr7:4318553-4318554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376799674	chr7:4318559-4318560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558694186	chr7:4318569-4318570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572116818	chr7:4318656-4318657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533002521	chr7:4318693-4318694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6956151	chr7:4318705-4318706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs187145481	chr7:4318746-4318747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146071832	chr7:4318755-4318756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543011563	chr7:4318820-4318821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376180547	chr7:4318825-4318826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6970574	chr7:4318841-4318842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531870849	chr7:4318843-4318844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148869997	chr7:4318863-4318864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537824132	chr7:4318870-4318871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571931808	chr7:4318889-4318890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75512349	chr7:4318935-4318936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559212649	chr7:4318943-4318944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143298960	chr7:4319016-4319017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567756683	chr7:4319079-4319080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536781045	chr7:4319106-4319107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192009971	chr7:4319117-4319118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570093797	chr7:4319118-4319119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539044621	chr7:4319135-4319136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6952832	chr7:4319172-4319173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572316269	chr7:4319226-4319227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6970099	chr7:4319227-4319228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574188505	chr7:4319313-4319314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386709567	chr7:4319318-4319319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13229501	chr7:4319319-4319320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs562925061	chr7:4319320-4319321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572575310	chr7:4319323-4319324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576738839	chr7:4319329-4319330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13232307	chr7:4319334-4319335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs181449172	chr7:4319341-4319342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4314400-4321200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:4314400-4322200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:4318200-4321000	Weak transcription	HSMMtube	muscle
4	chr7:4318400-4319200	Enhancers	HepG2	liver
5	chr7:4321000-4322600	Enhancers	HSMMtube	muscle
6	chr7:4321200-4321600	Enhancers	Fetal Brain Female	brain
7	chr7:4321200-4321600	Enhancers	Fetal Intestine Small	intestine
8	chr7:4321200-4322600	Enhancers	Fetal Brain Male	brain
9	chr7:4321400-4321600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:4321400-4322600	Enhancers	A549	lung
11	chr7:4322200-4322600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:4322200-4322600	Enhancers	Gastric	stomach
13	chr7:4322200-4322800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:4322400-4322800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:4322400-4322800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:4322400-4322800	Enhancers	NHEK	skin
17	chr7:4322600-4325800	Weak transcription	Fetal Brain Male	brain
18	chr7:4324400-4324800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:4324800-4325800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:4325600-4326000	Enhancers	Fetal Lung	lung
21	chr7:4325600-4326400	Enhancers	Fetal Stomach	stomach
22	chr7:4325800-4326400	ZNF genes & repeats	Fetal Brain Male	brain
23	chr7:4326000-4326400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:4326000-4326400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:4326000-4326400	Flanking Active TSS	Fetal Lung	lung
26	chr7:4326200-4326400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:4326200-4326600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:4326400-4326600	Active TSS	Fetal Lung	lung
29	chr7:4336800-4338200	Enhancers	Fetal Brain Male	brain
30	chr7:4342600-4343200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:4346000-4346600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:4346200-4346400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr7:4346200-4347400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr7:4346400-4347600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:4346600-4347000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:4347000-4347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
37	chr7:4347000-4347800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:4347200-4347400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr7:4347200-4347800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr7:4347400-4347600	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
41	chr7:4347400-4347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:4347400-4348200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:4347600-4347800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr7:4347800-4348000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:4347800-4348000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:4348000-4349200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:4348200-4349200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:4349200-4349400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:4349200-4349600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:4349600-4349800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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