Variant report

Variant	nsv516102
Chromosome Location	chr7:26617594-26619480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26619340..26622122-chr7:26627173..26629926,2	K562	blood:
2	chr7:26606033..26608543-chr7:26616098..26618406,2	K562	blood:
3	chr7:26613829..26615976-chr7:26617749..26620740,2	MCF-7	breast:
4	chr7:26617740..26620643-chr7:26621419..26623804,2	MCF-7	breast:
5	chr7:26618639..26620455-chr7:27197856..27200640,2	K562	blood:

Variant related genes	Relation type
ENSG00000270182	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2893255	chr7:26617594-26617595	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs185954649	chr7:26617596-26617597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188810601	chr7:26617630-26617631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549586374	chr7:26617642-26617643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569503638	chr7:26617710-26617711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538465137	chr7:26617720-26617721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551815801	chr7:26617747-26617748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571658112	chr7:26617751-26617752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181907543	chr7:26617752-26617753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553923192	chr7:26617761-26617762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144576208	chr7:26617768-26617769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187208518	chr7:26617770-26617771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559253855	chr7:26617780-26617781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4557597	chr7:26617908-26617909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs575802988	chr7:26617911-26617912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139101025	chr7:26617925-26617926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115807630	chr7:26618003-26618004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572093178	chr7:26618045-26618046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4722615	chr7:26618062-26618063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560759546	chr7:26618097-26618098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77184479	chr7:26618109-26618110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190977871	chr7:26618114-26618115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117081141	chr7:26618120-26618121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563189319	chr7:26618143-26618144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182823755	chr7:26618206-26618207	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552614386	chr7:26618237-26618238	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78502733	chr7:26618240-26618241	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571707903	chr7:26618245-26618246	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs58177156	chr7:26618248-26618249	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554266219	chr7:26618260-26618261	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534073943	chr7:26618264-26618265	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371861921	chr7:26618269-26618270	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576920152	chr7:26618286-26618287	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3068708	chr7:26618287-26618288	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397838158	chr7:26618302-26618303	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377442741	chr7:26618310-26618311	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201196585	chr7:26618314-26618315	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145432258	chr7:26618317-26618318	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4996666	chr7:26618342-26618343	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59123722	chr7:26618347-26618348	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537813717	chr7:26618349-26618350	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3068710	chr7:26618351-26618352	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57264841	chr7:26618352-26618353	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12533637	chr7:26618357-26618358	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150800494	chr7:26618360-26618361	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3068712	chr7:26618361-26618362	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376284425	chr7:26618362-26618363	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200638056	chr7:26618363-26618364	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67220181	chr7:26618365-26618366	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61376431	chr7:26618367-26618368	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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 cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26617200-26618200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:26617600-26618200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:26617800-26618400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:26618200-26618400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:26618200-26618600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:26618200-26619400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:26618400-26618600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
8	chr7:26618400-26620000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:26618600-26627200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:26618800-26620400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:26619000-26619400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:26619400-26620600	Enhancers	Fetal Brain Male	brain
13	chr7:26619400-26621200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:26619400-26627000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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