Variant report

Variant	esv2554931
Chromosome Location	chr7:27294688-27297872
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	chr7:27287489..27291227-chr7:27295205..27298125,3	K562	blood:
2	chr7:27288720..27291227-chr7:27295247..27298125,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7794193	chr7:27294701-27294702	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191742262	chr7:27294702-27294703	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138155247	chr7:27294772-27294773	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371750152	chr7:27294789-27294790	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571488171	chr7:27294801-27294802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538866429	chr7:27294826-27294827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370688478	chr7:27294829-27294830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557195542	chr7:27294831-27294832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575854949	chr7:27294836-27294837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543357339	chr7:27294839-27294840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115617823	chr7:27294869-27294870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80328314	chr7:27294874-27294875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113243822	chr7:27294893-27294894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34954505	chr7:27295043-27295044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs36041172	chr7:27295083-27295084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183705613	chr7:27295090-27295091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568929777	chr7:27295105-27295106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71539510	chr7:27295244-27295245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs58342196	chr7:27295253-27295254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs80022819	chr7:27295260-27295261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188183605	chr7:27295282-27295283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61129362	chr7:27295287-27295288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567538165	chr7:27295330-27295331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111361779	chr7:27295342-27295343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375780383	chr7:27295377-27295378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201305122	chr7:27295379-27295380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373246942	chr7:27295381-27295382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57113847	chr7:27295397-27295398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374025057	chr7:27295400-27295401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35066924	chr7:27295401-27295402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66655839	chr7:27295402-27295403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56727209	chr7:27295403-27295404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11760569	chr7:27295404-27295405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71910218	chr7:27295412-27295413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs70994636	chr7:27295422-27295423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11760573	chr7:27295440-27295441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528496645	chr7:27295468-27295469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546658224	chr7:27295481-27295482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571420845	chr7:27295486-27295487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538804100	chr7:27295487-27295488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557273828	chr7:27295495-27295496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569481204	chr7:27295497-27295498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183264933	chr7:27295731-27295732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555276902	chr7:27295732-27295733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147201450	chr7:27295802-27295803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541044984	chr7:27295835-27295836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11971251	chr7:27295858-27295859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370762298	chr7:27295877-27295878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577816660	chr7:27295882-27295883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35786897	chr7:27295886-27295887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27294000-27294800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:27294400-27295000	Enhancers	Osteobl	bone
3	chr7:27294600-27294800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:27294800-27296000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27295000-27296000	Weak transcription	Osteobl	bone
6	chr7:27296000-27296200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:27296000-27296400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:27296000-27296600	Enhancers	Osteobl	bone
9	chr7:27296200-27297000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:27296200-27297600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:27296600-27297000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:27296600-27297000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:27297600-27297800	Flanking Bivalent TSS/Enh	ES-WA7 Cell Line	embryonic stem cell
14	chr7:27297600-27298400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:27297800-27298000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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