Variant report

Variant	esv3501085
Chromosome Location	chr3:20373148-20378146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
2	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
3	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
4	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
5	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73821620	chr3:20373153-20373154	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574135133	chr3:20373175-20373176	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78633931	chr3:20373331-20373332	Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563089246	chr3:20373333-20373334	Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73821621	chr3:20373335-20373336	Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12639067	chr3:20373355-20373356	Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564075583	chr3:20373384-20373385	Active TSS Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73821623	chr3:20373412-20373413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374367962	chr3:20373467-20373468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546828137	chr3:20373510-20373511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145199975	chr3:20373518-20373519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550794992	chr3:20373520-20373521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556468684	chr3:20373550-20373551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539903814	chr3:20373552-20373553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149129476	chr3:20373554-20373555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557885476	chr3:20373585-20373586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576351778	chr3:20373645-20373646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545342469	chr3:20373675-20373676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112551150	chr3:20373681-20373682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375109269	chr3:20373685-20373686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182686839	chr3:20373703-20373704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576022252	chr3:20373712-20373713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187503607	chr3:20373733-20373734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370091364	chr3:20373738-20373739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556322334	chr3:20373739-20373740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9825734	chr3:20373742-20373743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545855488	chr3:20373751-20373752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190797757	chr3:20373764-20373765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528050384	chr3:20373767-20373768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539840616	chr3:20373773-20373774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9881052	chr3:20373780-20373781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552226799	chr3:20373819-20373820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74798968	chr3:20373838-20373839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569042810	chr3:20373865-20373866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533466500	chr3:20373985-20373986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376246130	chr3:20374020-20374021	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556751002	chr3:20374021-20374022	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551809536	chr3:20374024-20374025	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35782050	chr3:20374064-20374065	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566841469	chr3:20374080-20374081	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146981866	chr3:20374127-20374128	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555453762	chr3:20374154-20374155	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138058334	chr3:20374174-20374175	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188892084	chr3:20374230-20374231	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114506626	chr3:20374280-20374281	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78516234	chr3:20374313-20374314	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77463090	chr3:20374314-20374315	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78560520	chr3:20374315-20374316	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74970867	chr3:20374316-20374317	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193275492	chr3:20374326-20374327	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20354000-20381800	Weak transcription	Aorta	Aorta
2	chr3:20372400-20374000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:20372800-20373400	Enhancers	K562	blood
4	chr3:20373000-20373400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:20373200-20373400	Bivalent Enhancer	A549	lung
6	chr3:20373400-20374000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:20373400-20376600	Weak transcription	K562	blood
8	chr3:20374000-20374200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:20374000-20374400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:20374200-20374400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr3:20374400-20374600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:20374600-20374800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:20374600-20374800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:20374800-20375000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:20375000-20377000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:20376400-20376600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:20376600-20378400	Enhancers	K562	blood
18	chr3:20376600-20380200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:20377000-20377400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:20377400-20378800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:20377600-20378200	Enhancers	Stomach Mucosa	stomach
22	chr3:20378000-20378200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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