Variant report

Variant	nsv1020378
Chromosome Location	chr7:26679880-26733872
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:70)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:26624734..26625596-chr7:26706998..26707945,8	MCF-7	breast:
2	chr7:26725689..26726610-chr7:27200641..27201297,2	MCF-7	breast:
3	chr7:26720859..26722433-chr7:27183062..27183923,9	MCF-7	breast:
4	chr7:26681710..26684332-chr7:26686798..26688531,2	K562	blood:
5	chr7:26624703..26625648-chr7:26708386..26709262,2	MCF-7	breast:
6	chr7:26547193..26547730-chr7:26706946..26707534,2	MCF-7	breast:
7	chr7:26692261..26694629-chr7:26701079..26703481,2	K562	blood:
8	chr7:26725771..26726610-chr7:27176008..27176865,3	MCF-7	breast:
9	chr7:26584727..26586296-chr7:26690615..26692609,2	MCF-7	breast:
10	chr7:26407824..26409906-chr7:26706446..26707818,12	MCF-7	breast:
11	chr7:26548205..26550770-chr7:26678348..26680933,2	K562	blood:
12	chr7:26721413..26722057-chr7:27200291..27201200,4	MCF-7	breast:
13	chr7:26679414..26681978-chr7:26683606..26686442,2	MCF-7	breast:
14	chr7:26681710..26684208-chr7:26686394..26688298,2	K562	blood:
15	chr7:26684344..26686336-chr7:26690650..26693486,2	K562	blood:
16	chr7:26540332..26541062-chr7:26707307..26707867,3	MCF-7	breast:
17	chr6:100785464..100787327-chr7:26711243..26713423,2	MCF-7	breast:
18	chr7:26679414..26681978-chr7:26683606..26686442,2	MCF-7	breast:
19	chr7:26725724..26726744-chr7:27200278..27201244,5	K562	blood:
20	chr7:26681710..26684208-chr7:26686394..26688298,2	K562	blood:
21	chr7:26721088..26721712-chr7:27175807..27176765,2	MCF-7	breast:
22	chr7:26686597..26689327-chr7:26690764..26692323,2	MCF-7	breast:
23	chr7:26721606..26723393-chr7:27184950..27187202,2	MCF-7	breast:
24	chr7:26684344..26686336-chr7:26690650..26693486,2	K562	blood:
25	chr7:26407947..26408736-chr7:26721513..26722078,2	MCF-7	breast:
26	chr7:26710914..26713828-chr7:26716140..26720303,3	K562	blood:
27	chr7:26436167..26439021-chr7:26691644..26694496,3	MCF-7	breast:
28	chr7:25932106..25933106-chr7:26707000..26708058,3	K562	blood:
29	chr7:26723927..26726163-chr7:26727475..26729887,2	K562	blood:
30	chr7:26692261..26694629-chr7:26701079..26703481,2	K562	blood:
31	chr7:26588899..26589576-chr7:26706937..26707768,2	MCF-7	breast:
32	chr7:26721156..26722065-chr7:27200580..27201256,2	K562	blood:
33	chr7:26721768..26723951-chr7:27183878..27185970,2	MCF-7	breast:
34	chr7:26705980..26708801-chr7:26709438..26711204,2	K562	blood:
35	chr7:26692789..26695247-chr7:26695644..26699450,4	MCF-7	breast:
36	chr1:60507629..60508330-chr7:26711560..26712546,2	MCF-7	breast:
37	chr7:26407856..26408734-chr7:26707178..26708194,3	MCF-7	breast:
38	chr7:26705980..26708801-chr7:26709230..26711204,3	K562	blood:
39	chr7:26664430..26667382-chr7:26681275..26683540,2	K562	blood:
40	chr7:26710914..26713828-chr7:26716140..26720303,3	K562	blood:
41	chr7:26472363..26474501-chr7:26678553..26680517,2	K562	blood:
42	chr7:26724644..26726693-chr7:27189270..27190835,2	MCF-7	breast:
43	chr7:26705980..26708801-chr7:26709438..26711204,2	K562	blood:
44	chr7:26416040..26417569-chr7:26706693..26708540,2	MCF-7	breast:
45	chr7:26730354..26732072-chr7:26734389..26737232,2	MCF-7	breast:
46	chr7:26437229..26438858-chr7:26692047..26693654,2	MCF-7	breast:
47	chr7:26677985..26680771-chr7:26686507..26688099,2	K562	blood:
48	chr7:26692789..26695247-chr7:26695644..26699450,4	MCF-7	breast:
49	chr7:26714359..26717101-chr7:26719941..26722136,2	K562	blood:
50	chr7:26694010..26696341-chr7:27199658..27201244,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf71-4	chr7:26708036-26708086	NONHSAT119656
2	lnc-SKAP2-2	chr7:26695997-26696287	uc_211_-
3	lnc-SKAP2-3	chr7:26694838-26695378	NONHSAT119655
4	lnc-C7orf71-2	chr7:26695997-26696287	uc_211_+
5	lnc-C7orf71-4	chr7:26707003-26707486	NONHSAT119656

No data

Variant related genes	Relation type
ENSG00000106006	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000086300	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000122565	chromatin interactions
ENSG00000214870	chromatin interactions
ENSG00000225792	chromatin interactions

Extended variants
information (count: 1834 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145175453	chr7:26679888-26679889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544358315	chr7:26679920-26679921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59304553	chr7:26679938-26679939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs59641892	chr7:26679964-26679965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370691298	chr7:26679975-26679976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578096009	chr7:26680017-26680018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189362269	chr7:26680100-26680101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180860577	chr7:26680118-26680119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529255556	chr7:26680145-26680146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139005047	chr7:26680177-26680178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376388030	chr7:26680232-26680233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554043799	chr7:26680246-26680247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547894078	chr7:26680248-26680249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531648425	chr7:26680299-26680300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185838548	chr7:26680317-26680318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571445802	chr7:26680324-26680325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372022220	chr7:26680344-26680345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188758140	chr7:26680359-26680360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541900304	chr7:26680397-26680398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577370491	chr7:26680417-26680418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546138493	chr7:26680431-26680432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35853059	chr7:26680461-26680462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141987185	chr7:26680694-26680695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562883646	chr7:26680703-26680704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79219339	chr7:26680722-26680723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535795363	chr7:26680757-26680758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6964574	chr7:26680800-26680801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs6964496	chr7:26681021-26681022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538195933	chr7:26681051-26681052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111707690	chr7:26681058-26681059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149588942	chr7:26681064-26681065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540488457	chr7:26681083-26681084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554211215	chr7:26681092-26681093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574184739	chr7:26681093-26681094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201694555	chr7:26681152-26681153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543004724	chr7:26681169-26681170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112684079	chr7:26681175-26681176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62447660	chr7:26681180-26681181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547892802	chr7:26681195-26681196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564081215	chr7:26681203-26681204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531613551	chr7:26681211-26681212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545320171	chr7:26681239-26681240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181134953	chr7:26681273-26681274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199700736	chr7:26681286-26681287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527453967	chr7:26681287-26681288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186130194	chr7:26681294-26681295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6965011	chr7:26681315-26681316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371746663	chr7:26681340-26681341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369348291	chr7:26681342-26681343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28627225	chr7:26681343-26681344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:801 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26671200-26693200	Weak transcription	Spleen	Spleen
2	chr7:26678400-26693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:26678800-26715400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:26679400-26710000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:26679600-26682000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:26679600-26682000	Weak transcription	Pancreas	Pancrea
7	chr7:26679600-26682000	Weak transcription	K562	blood
8	chr7:26679800-26682000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:26679800-26682000	Weak transcription	Fetal Kidney	kidney
10	chr7:26680400-26704400	Weak transcription	Primary B cells from cord blood	blood
11	chr7:26681200-26682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:26681400-26682800	Weak transcription	Gastric	stomach
13	chr7:26681600-26684600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:26682000-26682200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:26682000-26682200	Enhancers	Pancreas	Pancrea
16	chr7:26682000-26682400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:26682000-26682400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:26682000-26682400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr7:26682000-26682400	ZNF genes & repeats	Fetal Kidney	kidney
20	chr7:26682200-26682400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:26682200-26682400	Active TSS	Fetal Lung	lung
22	chr7:26682200-26682400	ZNF genes & repeats	Pancreas	Pancrea
23	chr7:26682400-26682800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:26682400-26687200	Weak transcription	Fetal Kidney	kidney
25	chr7:26682400-26692200	Weak transcription	Pancreas	Pancrea
26	chr7:26682800-26683000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:26683800-26686200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:26683800-26686600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:26684400-26686400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:26684600-26685600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:26684600-26686400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr7:26685000-26686200	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:26685000-26688200	Enhancers	Placenta	Placenta
34	chr7:26685600-26704400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:26686200-26686400	Enhancers	Hela-S3	cervix
36	chr7:26686200-26693000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:26686400-26687000	Weak transcription	Hela-S3	cervix
38	chr7:26686400-26701600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr7:26686600-26687400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:26687000-26689400	Enhancers	Hela-S3	cervix
41	chr7:26687200-26688800	Enhancers	Fetal Kidney	kidney
42	chr7:26687400-26687600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:26687600-26689000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:26687600-26689000	Enhancers	NHEK	skin
45	chr7:26687600-26692400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:26687800-26688400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:26687800-26688400	Enhancers	HMEC	breast
48	chr7:26687800-26688400	Enhancers	NHDF-Ad	bronchial
49	chr7:26687800-26688800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:26687800-26688800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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