Variant report

Variant	esv12889
Chromosome Location	chr7:26654807-26655980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26647030..26650543-chr7:26652888..26655926,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77895560	chr7:26654808-26654809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181904614	chr7:26654811-26654812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550121364	chr7:26654812-26654813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560747676	chr7:26654830-26654831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78155537	chr7:26654838-26654839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75440977	chr7:26654846-26654847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558931722	chr7:26654893-26654894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572264108	chr7:26654926-26654927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200816968	chr7:26654961-26654962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186240984	chr7:26654969-26654970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76337918	chr7:26654980-26654981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374225934	chr7:26654981-26654982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147032325	chr7:26655076-26655077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190941703	chr7:26655080-26655081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138431986	chr7:26655142-26655143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180825693	chr7:26655162-26655163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548267558	chr7:26655163-26655164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576471472	chr7:26655216-26655217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545295511	chr7:26655222-26655223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143711421	chr7:26655277-26655278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565266016	chr7:26655306-26655307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs80302873	chr7:26655307-26655308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547935713	chr7:26655313-26655314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12700753	chr7:26655314-26655315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545910003	chr7:26655333-26655334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143913986	chr7:26655357-26655358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75916239	chr7:26655360-26655361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60723135	chr7:26655362-26655363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs77663915	chr7:26655372-26655373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186476233	chr7:26655373-26655374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146468346	chr7:26655398-26655399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534636188	chr7:26655403-26655404	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191498946	chr7:26655428-26655429	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568172806	chr7:26655439-26655440	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80329430	chr7:26655527-26655528	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1557989	chr7:26655560-26655561	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148037236	chr7:26655630-26655631	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs1557990	chr7:26655681-26655682	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7786522	chr7:26655718-26655719	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141718588	chr7:26655728-26655729	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1557991	chr7:26655734-26655735	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541364377	chr7:26655743-26655744	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs115895780	chr7:26655753-26655754	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530268913	chr7:26655763-26655764	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575534965	chr7:26655764-26655765	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs543928528	chr7:26655765-26655766	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs182823148	chr7:26655776-26655777	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs1557992	chr7:26655789-26655790	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552579488	chr7:26655801-26655802	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs565946256	chr7:26655843-26655844	Strong transcription Enhancers Weak transcription ZNF genes & repeats	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26634400-26656600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:26649400-26658200	Weak transcription	Spleen	Spleen
3	chr7:26650000-26655600	Weak transcription	Lung	lung
4	chr7:26652800-26664400	Weak transcription	Pancreas	Pancrea
5	chr7:26653000-26656400	Weak transcription	Fetal Brain Male	brain
6	chr7:26653200-26658200	Weak transcription	Primary B cells from cord blood	blood
7	chr7:26653400-26655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:26654200-26655000	Enhancers	Fetal Heart	heart
9	chr7:26655400-26656200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:26655400-26656400	Enhancers	HMEC	breast
11	chr7:26655600-26656200	ZNF genes & repeats	Lung	lung
12	chr7:26655600-26656400	Enhancers	NHEK	skin
13	chr7:26655600-26658400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:26655800-26656200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:26655800-26656400	Enhancers	Hela-S3	cervix
16	chr7:26655800-26656400	Enhancers	K562	blood

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