Variant report

Variant	esv3376890
Chromosome Location	chr7:15148761-15171673
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	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:
2	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:

Extended variants
information (count: 519 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574003494	chr7:15159220-15159221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143027334	chr7:15159222-15159223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575818595	chr7:15159299-15159300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189334469	chr7:15159300-15159301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371098271	chr7:15159349-15159350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551269430	chr7:15159397-15159398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565353195	chr7:15159411-15159412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372518850	chr7:15159420-15159421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574029658	chr7:15159442-15159443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375550864	chr7:15159446-15159447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145253410	chr7:15159448-15159449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113155933	chr7:15159466-15159467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551013247	chr7:15159482-15159483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1547963	chr7:15159483-15159484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530020969	chr7:15159504-15159505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369956580	chr7:15159557-15159558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77420188	chr7:15159567-15159568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75200614	chr7:15159568-15159569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78868924	chr7:15159571-15159572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373198480	chr7:15159572-15159573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191766810	chr7:15159574-15159575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566591944	chr7:15159651-15159652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538812481	chr7:15159696-15159697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552014082	chr7:15159697-15159698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367932211	chr7:15159702-15159703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184185306	chr7:15159717-15159718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537506925	chr7:15159733-15159734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79562804	chr7:15159736-15159737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574090064	chr7:15159744-15159745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372154819	chr7:15159768-15159769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553613052	chr7:15159769-15159770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573381970	chr7:15159788-15159789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545608044	chr7:15159803-15159804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188903314	chr7:15159804-15159805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575819829	chr7:15159837-15159838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2109948	chr7:15159841-15159842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561313754	chr7:15159843-15159844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530097259	chr7:15159877-15159878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565211447	chr7:15159901-15159902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534221886	chr7:15159962-15159963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546613897	chr7:15159963-15159964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367782926	chr7:15159964-15159965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532272634	chr7:15160025-15160026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552358646	chr7:15160035-15160036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568663347	chr7:15160047-15160048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531350509	chr7:15160055-15160056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142351968	chr7:15160064-15160065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547871012	chr7:15160066-15160067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2109949	chr7:15160072-15160073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533758268	chr7:15160107-15160108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15159200-15160000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr7:15160000-15164000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:15162400-15163800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:15162800-15163800	Enhancers	HUVEC	blood vessel
5	chr7:15163000-15163400	Enhancers	Fetal Heart	heart
6	chr7:15163400-15169400	Weak transcription	Fetal Heart	heart
7	chr7:15163600-15164000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:15163800-15164000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:15163800-15164800	Weak transcription	HUVEC	blood vessel
10	chr7:15164000-15164400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:15164000-15164400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:15164000-15166000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:15164000-15167800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:15164400-15167000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:15164400-15169200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:15164800-15165000	Enhancers	HUVEC	blood vessel
17	chr7:15165000-15165400	Weak transcription	HUVEC	blood vessel
18	chr7:15165400-15167200	Enhancers	HUVEC	blood vessel
19	chr7:15166000-15166200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:15166200-15167600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:15167000-15167800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:15167200-15168400	Weak transcription	HUVEC	blood vessel
23	chr7:15167600-15167800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:15167600-15168800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:15167800-15168600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:15167800-15168600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:15167800-15168800	Enhancers	Brain Germinal Matrix	brain
28	chr7:15167800-15171400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:15168400-15169000	Enhancers	Fetal Brain Male	brain
30	chr7:15168400-15171800	Enhancers	HUVEC	blood vessel
31	chr7:15168600-15170000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:15169200-15169400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:15169200-15169400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr7:15169200-15171600	Enhancers	NHEK	skin
35	chr7:15169400-15169600	Enhancers	Fetal Heart	heart
36	chr7:15169400-15170000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:15169400-15170200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:15169400-15171000	Enhancers	Hela-S3	cervix
39	chr7:15169400-15171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:15169400-15171200	Enhancers	HMEC	breast
41	chr7:15169600-15170400	Weak transcription	Fetal Heart	heart
42	chr7:15169800-15171600	Enhancers	NH-A	brain
43	chr7:15170000-15170200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr7:15170000-15171000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:15170000-15171200	Enhancers	Osteobl	bone
46	chr7:15170000-15171800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:15170000-15171800	Enhancers	NHDF-Ad	bronchial
48	chr7:15170200-15171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:15170400-15170800	Enhancers	Fetal Heart	heart
50	chr7:15170600-15171200	Enhancers	HSMM	muscle

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