Variant report

Variant	esv14635
Chromosome Location	chr7:7045396-7053980
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	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:
2	chr7:7039931..7042582-chr7:7043359..7045821,2	K562	blood:

Extended variants
information (count: 555 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572160570	chr7:7045408-7045409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545941067	chr7:7045428-7045429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57986125	chr7:7045433-7045434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140287317	chr7:7045439-7045440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114802899	chr7:7045443-7045444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10225391	chr7:7045461-7045462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565017113	chr7:7045471-7045472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190124344	chr7:7045480-7045481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10269063	chr7:7045487-7045488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559957202	chr7:7045502-7045503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375095374	chr7:7045568-7045569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551949075	chr7:7045579-7045580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71533339	chr7:7045586-7045587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537526000	chr7:7045589-7045590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549424781	chr7:7045594-7045595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188394715	chr7:7045604-7045605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570318703	chr7:7045611-7045612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145129411	chr7:7045635-7045636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572255005	chr7:7045648-7045649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192882581	chr7:7045664-7045665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557922203	chr7:7045669-7045670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576086273	chr7:7045691-7045692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183844679	chr7:7045700-7045701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148339953	chr7:7045705-7045706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573313407	chr7:7045706-7045707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188588023	chr7:7045724-7045725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559842693	chr7:7045725-7045726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368398986	chr7:7045749-7045750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573469298	chr7:7045753-7045754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113544971	chr7:7045759-7045760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563883706	chr7:7045774-7045775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531097823	chr7:7045799-7045800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549514842	chr7:7045810-7045811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567718907	chr7:7045811-7045812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371957076	chr7:7045820-7045821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547068502	chr7:7045845-7045846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565874052	chr7:7045854-7045855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199604024	chr7:7045876-7045877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557742090	chr7:7045878-7045879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200159480	chr7:7045897-7045898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376127770	chr7:7045898-7045899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200575203	chr7:7045900-7045901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569533120	chr7:7045919-7045920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536813403	chr7:7045934-7045935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555048176	chr7:7045943-7045944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375299008	chr7:7045945-7045946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540667985	chr7:7045950-7045951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552918480	chr7:7045979-7045980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs578207701	chr7:7045984-7045985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545704148	chr7:7046020-7046021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7032400-7051800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:7039600-7053800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:7040200-7050800	Weak transcription	Fetal Intestine Small	intestine
4	chr7:7043200-7051200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:7045000-7045400	Enhancers	K562	blood
6	chr7:7050000-7051600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:7050000-7053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:7050800-7051800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr7:7050800-7052200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:7050800-7052600	Strong transcription	Fetal Intestine Small	intestine
11	chr7:7051200-7052400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr7:7051600-7051800	Bivalent/Poised TSS	A549	lung
13	chr7:7051600-7052200	Strong transcription	Fetal Intestine Large	intestine
14	chr7:7051600-7053800	Enhancers	K562	blood
15	chr7:7051800-7052600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr7:7052200-7052600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:7052200-7053800	Weak transcription	Fetal Intestine Large	intestine
18	chr7:7052400-7060600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:7052600-7052800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:7052600-7054200	Weak transcription	Fetal Intestine Small	intestine
21	chr7:7052600-7058200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:7052800-7055000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:7053200-7053600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:7053400-7055600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:7053600-7055000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:7053800-7055000	Enhancers	Brain Germinal Matrix	brain

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