Variant report

Variant	esv3406124
Chromosome Location	chr7:12878220-12878545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534173613	chr7:12878266-12878267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568620197	chr7:12878277-12878278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74557900	chr7:12878314-12878315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76757108	chr7:12878318-12878319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7806247	chr7:12878326-12878327	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540090445	chr7:12878363-12878364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556610844	chr7:12878364-12878365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7456842	chr7:12878408-12878409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10247964	chr7:12878419-12878420	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560260316	chr7:12878425-12878426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188703671	chr7:12878464-12878465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374202906	chr7:12878490-12878491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80145804	chr7:12878508-12878509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147222156	chr7:12878529-12878530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75702140	chr7:12878533-12878534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572858190	chr7:12878535-12878536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368716739	chr7:12878537-12878538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	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
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12872600-12879200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:12873600-12879400	Weak transcription	Pancreas	Pancrea
3	chr7:12878000-12878400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:12878000-12878400	Enhancers	K562	blood
5	chr7:12878200-12878600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:12878200-12878600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:12878200-12878600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:12878200-12880000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:12878400-12878800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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