Variant report

Variant	nsv971154
Chromosome Location	chr7:27390702-27397127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:27396620-27396770	GM12801	blood:	n/a	n/a
2	NFIC	chr7:27391819-27392188	ECC-1	luminal epithelium:	n/a	n/a
3	NRF1	chr7:27394978-27395000	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:27395585-27395659	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:27395706-27395726	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:27390735-27391149	H1-neurons	neurons:	n/a	n/a
7	REST	chr7:27394741-27395477	H1-neurons	neurons:	n/a	n/a
8	REST	chr7:27394916-27395423	H1-neurons	neurons:	n/a	n/a
9	SPI1	chr7:27391395-27391728	HL-60	blood:	n/a	n/a
10	SPI1	chr7:27391369-27391712	HL-60	blood:	n/a	n/a
11	USF1	chr7:27393022-27393203	SK-N-SH_RA	brain:	n/a	n/a
12	USF2	chr7:27393043-27393303	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:27391102..27394660-chr7:27401412..27404075,3	MCF-7	breast:
2	chr7:27385251..27387696-chr7:27388686..27392238,3	K562	blood:
3	chr7:27389345..27391208-chr7:27395433..27397427,2	MCF-7	breast:
4	chr7:27385251..27387696-chr7:27388686..27391421,2	K562	blood:
5	chr7:27396809..27399657-chr7:27404477..27407398,2	MCF-7	breast:
6	chr7:27396768..27399494-chr7:27410784..27413777,2	MCF-7	breast:
7	chr7:27393165..27395076-chr7:27476139..27478551,2	K562	blood:
8	chr7:27389345..27391208-chr7:27395433..27397427,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224322	TF binding region
ENSG00000224322	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183748713	chr7:27390734-27390735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578184698	chr7:27390754-27390755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545322771	chr7:27390850-27390851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563735944	chr7:27390861-27390862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4722691	chr7:27390865-27390866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188076527	chr7:27390894-27390895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181360689	chr7:27390901-27390902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529048740	chr7:27390929-27390930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6462010	chr7:27390953-27390954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11563983	chr7:27390956-27390957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369023393	chr7:27390979-27390980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559316984	chr7:27390992-27390993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372261231	chr7:27391004-27391005	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs145332835	chr7:27391100-27391101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184858450	chr7:27391103-27391104	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570028018	chr7:27391112-27391113	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530934113	chr7:27391121-27391122	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549183832	chr7:27391171-27391172	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs722562	chr7:27391186-27391187	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189409910	chr7:27391198-27391199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368688089	chr7:27391242-27391243	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377057532	chr7:27391243-27391244	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs28398483	chr7:27391258-27391259	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75435028	chr7:27391278-27391279	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564810779	chr7:27391283-27391284	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575584866	chr7:27391284-27391285	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150379229	chr7:27391331-27391332	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs564196229	chr7:27391421-27391422	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117982236	chr7:27391432-27391433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181935388	chr7:27391462-27391463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560873328	chr7:27391494-27391495	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs186639452	chr7:27391550-27391551	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560593714	chr7:27391563-27391564	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs722563	chr7:27391569-27391570	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4722692	chr7:27391584-27391585	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs4719890	chr7:27391639-27391640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs375720280	chr7:27391684-27391685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10266399	chr7:27391685-27391686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563599647	chr7:27391712-27391713	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs530893998	chr7:27391719-27391720	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs7777464	chr7:27391727-27391728	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536612944	chr7:27391766-27391767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs567582183	chr7:27391771-27391772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374133086	chr7:27391799-27391800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73282158	chr7:27391833-27391834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571465689	chr7:27391964-27391965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538850486	chr7:27391993-27391994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs181845700	chr7:27392001-27392002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557022523	chr7:27392016-27392017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10282366	chr7:27392031-27392032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27390200-27391000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:27390200-27396000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:27390800-27392200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:27391000-27391600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:27391600-27392000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:27393400-27394200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:27394200-27403400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:27396000-27396200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:27396200-27396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:27396600-27397800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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