Variant report

Variant	esv3342109
Chromosome Location	chr3:163973299-164005532
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:
2	chr3:163968485..163970197-chr3:163971709..163973734,2	MCF-7	breast:
3	chr3:163995585..163997750-chr3:164093655..164096327,2	K562	blood:
4	chr3:163988892..163990964-chr3:163991912..163993953,2	K562	blood:

Extended variants
information (count: 1195 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1575153	chr3:163973316-163973317	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144839005	chr3:163973350-163973351	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116682195	chr3:163973382-163973383	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371500787	chr3:163973394-163973395	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145640003	chr3:163973398-163973399	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529137188	chr3:163973401-163973402	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549027151	chr3:163973452-163973453	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568408016	chr3:163973465-163973466	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74943727	chr3:163973480-163973481	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80252317	chr3:163973507-163973508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114644802	chr3:163973537-163973538	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201400610	chr3:163973612-163973613	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71302219	chr3:163973613-163973614	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188474422	chr3:163973614-163973615	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs398071995	chr3:163973623-163973624	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536520679	chr3:163973665-163973666	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553564981	chr3:163973669-163973670	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180691244	chr3:163973699-163973700	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536120077	chr3:163973710-163973711	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555803072	chr3:163973723-163973724	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184218162	chr3:163973736-163973737	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6773738	chr3:163973738-163973739	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149130132	chr3:163973755-163973756	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563837882	chr3:163973766-163973767	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577275278	chr3:163973767-163973768	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539940406	chr3:163973795-163973796	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57168127	chr3:163973804-163973805	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148321525	chr3:163973810-163973811	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549243586	chr3:163973824-163973825	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6786438	chr3:163973825-163973826	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189446988	chr3:163973839-163973840	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181191209	chr3:163973845-163973846	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570869049	chr3:163973852-163973853	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539895360	chr3:163973884-163973885	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547138547	chr3:163973885-163973886	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567021447	chr3:163973904-163973905	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535706735	chr3:163973905-163973906	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556005384	chr3:163973930-163973931	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371968006	chr3:163973944-163973945	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs789317	chr3:163973952-163973953	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537441932	chr3:163973966-163973967	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577225139	chr3:163973973-163973974	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538039184	chr3:163973981-163973982	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557281398	chr3:163973983-163973984	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368664441	chr3:163973984-163973985	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577237786	chr3:163974005-163974006	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13094145	chr3:163974014-163974015	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559849380	chr3:163974022-163974023	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530408447	chr3:163974026-163974027	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72054108	chr3:163974027-163974028	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Autism	19287141	CNVD
Incontinentia Pigmenti	22033527	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:163963200-163995200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:163979000-163996200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:163982400-163983200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:163990800-163993200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:163994400-163995200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:163995200-164000600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:163996200-163997000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:164000600-164002200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:164002200-164003000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:164003000-164005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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