Variant report

Variant	esv1800100
Chromosome Location	chr7:14511454-14564068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
2	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
3	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:

Extended variants
information (count: 1794 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1794 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577665475	chr7:14512600-14512601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543393154	chr7:14512613-14512614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs74610149	chr7:14512642-14512643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs529385846	chr7:14512675-14512676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181073748	chr7:14512676-14512677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs540249839	chr7:14512696-14512697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186502593	chr7:14512714-14512715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551740944	chr7:14512729-14512730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs190242118	chr7:14512759-14512760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182810454	chr7:14512763-14512764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs112922733	chr7:14512805-14512806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs550609329	chr7:14512839-14512840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567223464	chr7:14512885-14512886	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535966054	chr7:14512896-14512897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367799766	chr7:14512903-14512904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs114887116	chr7:14512904-14512905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187430960	chr7:14512935-14512936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs558060606	chr7:14512937-14512938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577904072	chr7:14512955-14512956	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs12674261	chr7:14512986-14512987	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557100325	chr7:14512990-14512991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190731830	chr7:14512998-14512999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183241363	chr7:14513042-14513043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs148136458	chr7:14513064-14513065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs528321899	chr7:14513083-14513084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376660364	chr7:14513127-14513128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs75604631	chr7:14513134-14513135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs530846925	chr7:14513135-14513136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550845715	chr7:14513169-14513170	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535051711	chr7:14513188-14513189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558147366	chr7:14513195-14513196	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188955334	chr7:14513226-14513227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529680245	chr7:14513242-14513243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs546421957	chr7:14513250-14513251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs114847351	chr7:14513277-14513278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs577929839	chr7:14513295-14513296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141059416	chr7:14513297-14513298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557947934	chr7:14513365-14513366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375587367	chr7:14513374-14513375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2195751	chr7:14513387-14513388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs12666188	chr7:14513396-14513397	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371796619	chr7:14513423-14513424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12668508	chr7:14513438-14513439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10226249	chr7:14513476-14513477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10255269	chr7:14513505-14513506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372018839	chr7:14513606-14513607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184479473	chr7:14513617-14513618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545489072	chr7:14513652-14513653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139391318	chr7:14513666-14513667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199886224	chr7:14513692-14513693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14512600-14513400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
2	chr7:14512800-14513000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:14513400-14517800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:14517800-14520400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:14518000-14520400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:14518200-14519000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:14518200-14520400	Enhancers	Brain Germinal Matrix	brain
8	chr7:14518400-14518800	Enhancers	Brain Hippocampus Middle	brain
9	chr7:14518600-14518800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:14518600-14519200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:14518800-14519800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:14519000-14520000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:14519800-14520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:14520000-14520200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:14520000-14520200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:14520000-14520400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:14520200-14527600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:14520400-14542400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:14535200-14535600	Enhancers	Liver	Liver
20	chr7:14535200-14535600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:14537000-14537600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:14537200-14537600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:14537200-14537600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:14541200-14541400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:14542400-14543600	Enhancers	Brain Germinal Matrix	brain
26	chr7:14542400-14544800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:14542400-14545400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr7:14542400-14545600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:14542600-14545000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:14543000-14544200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:14543200-14544200	Enhancers	Brain Angular Gyrus	brain
32	chr7:14543200-14544800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:14543400-14543800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:14543400-14543800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:14543400-14544200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:14543400-14544200	Enhancers	Brain Hippocampus Middle	brain
37	chr7:14543400-14544200	Enhancers	Brain Substantia Nigra	brain
38	chr7:14543400-14544400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:14543400-14544800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:14543600-14544000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:14543600-14544000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:14543600-14544200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:14543600-14544200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:14543600-14544400	Weak transcription	Brain Germinal Matrix	brain
45	chr7:14543600-14544800	Enhancers	Fetal Heart	heart
46	chr7:14543800-14544200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:14544200-14544600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:14544200-14545200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:14544400-14544800	Enhancers	Brain Germinal Matrix	brain
50	chr7:14544600-14544800	Enhancers	NHEK	skin

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