Variant report

Variant	esv1791735
Chromosome Location	chr7:13277948-13280579
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	chr7:13277363..13280042-chr7:13283075..13284729,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7780526	chr7:13277948-13277949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549404272	chr7:13277963-13277964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144135065	chr7:13277983-13277984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548341160	chr7:13277999-13278000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528762018	chr7:13278039-13278040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146519590	chr7:13278080-13278081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554884639	chr7:13278101-13278102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376199406	chr7:13278112-13278113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568412199	chr7:13278116-13278117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148701073	chr7:13278126-13278127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12699462	chr7:13278144-13278145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs556597436	chr7:13278147-13278148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534006568	chr7:13278212-13278213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567024534	chr7:13278281-13278282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192722945	chr7:13278355-13278356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552540794	chr7:13278356-13278357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547882850	chr7:13278402-13278403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572831001	chr7:13278423-13278424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56258192	chr7:13278455-13278456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184162113	chr7:13278496-13278497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190714615	chr7:13278516-13278517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544430262	chr7:13278541-13278542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563727700	chr7:13278572-13278573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529405832	chr7:13278589-13278590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192611386	chr7:13278614-13278615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559464096	chr7:13278670-13278671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528505466	chr7:13278671-13278672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551750853	chr7:13278674-13278675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571917148	chr7:13278703-13278704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569745401	chr7:13278705-13278706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4721198	chr7:13278706-13278707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567560198	chr7:13278759-13278760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556636315	chr7:13278766-13278767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552679581	chr7:13278778-13278779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566316953	chr7:13278782-13278783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538645615	chr7:13278803-13278804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4719357	chr7:13278812-13278813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575500740	chr7:13278845-13278846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55881270	chr7:13278847-13278848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554786360	chr7:13278878-13278879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199986566	chr7:13278904-13278905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11975372	chr7:13278907-13278908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71030567	chr7:13278923-13278924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79528337	chr7:13278925-13278926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147065563	chr7:13278985-13278986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200198216	chr7:13278990-13278991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147711790	chr7:13279012-13279013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559774348	chr7:13279022-13279023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34282271	chr7:13279032-13279033	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142538870	chr7:13279039-13279040	Weak transcription Enhancers	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13276200-13279800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13276200-13279800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:13279000-13279800	Enhancers	A549	lung
4	chr7:13279800-13280200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:13279800-13280200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:13279800-13280200	Enhancers	NH-A	brain
7	chr7:13279800-13280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:13279800-13280400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:13279800-13280400	Flanking Active TSS	A549	lung
10	chr7:13279800-13280600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:13280000-13280400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:13280000-13280400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:13280000-13280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:13280000-13280400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:13280400-13280600	Enhancers	A549	lung

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