Variant report

Variant	esv3426199
Chromosome Location	chr3:20504997-20522354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20514130..20516158-chr3:20517415..20519398,2	K562	blood:
2	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:
3	chr3:20514130..20516158-chr3:20517415..20519398,2	K562	blood:

Extended variants
information (count: 453 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554215239	chr3:20505022-20505023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572419618	chr3:20505024-20505025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6808851	chr3:20505047-20505048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs17193870	chr3:20505085-20505086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150352187	chr3:20505088-20505089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144982033	chr3:20505147-20505148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181517736	chr3:20505149-20505150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6808959	chr3:20505156-20505157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551216781	chr3:20505170-20505171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191208495	chr3:20508009-20508010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140046464	chr3:20508012-20508013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535468500	chr3:20508013-20508014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6804217	chr3:20508031-20508032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs73187199	chr3:20508047-20508048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6768144	chr3:20508064-20508065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143590914	chr3:20508069-20508070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572976466	chr3:20508089-20508090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114625284	chr3:20508131-20508132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73819567	chr3:20508133-20508134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529313561	chr3:20508189-20508190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545406290	chr3:20508667-20508668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560863488	chr3:20508686-20508687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75980101	chr3:20508717-20508718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs398091337	chr3:20508718-20508719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs77145484	chr3:20508742-20508743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139424705	chr3:20508753-20508754	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs529037158	chr3:20508796-20508797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565470376	chr3:20508798-20508799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6550535	chr3:20512413-20512414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546564149	chr3:20512424-20512425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146782477	chr3:20512439-20512440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58969202	chr3:20512440-20512441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6775230	chr3:20512533-20512534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529505393	chr3:20512559-20512560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550934786	chr3:20512563-20512564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6550536	chr3:20512564-20512565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142004409	chr3:20512619-20512620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6775324	chr3:20512623-20512624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146309063	chr3:20512627-20512628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534622992	chr3:20512663-20512664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556286449	chr3:20512711-20512712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1523347	chr3:20512768-20512769	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs562209318	chr3:20512782-20512783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575652407	chr3:20512816-20512817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181645639	chr3:20512826-20512827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6550537	chr3:20512867-20512868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6769567	chr3:20512961-20512962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs117280106	chr3:20513002-20513003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80027138	chr3:20513013-20513014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60487127	chr3:20513022-20513023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20503600-20505200	Enhancers	HUVEC	blood vessel
2	chr3:20508000-20508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:20508600-20508800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr3:20512400-20523200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:20516400-20522600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:20519800-20520200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:20519800-20520400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:20519800-20523400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr3:20520000-20520200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:20520000-20520800	Enhancers	Fetal Intestine Large	intestine
11	chr3:20520000-20521000	Enhancers	Fetal Lung	lung
12	chr3:20520200-20521200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:20520400-20521400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:20520400-20521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:20520400-20521400	Enhancers	HUVEC	blood vessel
16	chr3:20520600-20522200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:20521000-20522400	Weak transcription	Fetal Lung	lung
18	chr3:20521200-20522800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:20521200-20523000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:20521400-20521600	Flanking Active TSS	HUVEC	blood vessel
21	chr3:20521400-20522200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:20521400-20522200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:20521400-20522800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:20521400-20523000	Enhancers	NH-A	brain
25	chr3:20521600-20522000	Enhancers	HUVEC	blood vessel
26	chr3:20522000-20522600	Flanking Active TSS	HUVEC	blood vessel
27	chr3:20522000-20522800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:20522200-20522400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr3:20522200-20522600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr3:20522200-20522800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:20522200-20523000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:20522200-20523400	Enhancers	H1 Cell Line	embryonic stem cell

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