Variant report

Variant	esv3347800
Chromosome Location	chr2:178717656-178719704
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	chr2:178692507..178694140-chr2:178718717..178720458,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76049286	chr2:178717672-178717673	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs550022173	chr2:178717679-178717680	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs570107842	chr2:178717714-178717715	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs184028648	chr2:178717718-178717719	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs188716884	chr2:178717720-178717721	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs16865848	chr2:178717731-178717732	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs180683655	chr2:178717748-178717749	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs62183367	chr2:178717761-178717762	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs16865850	chr2:178717776-178717777	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs577243293	chr2:178717828-178717829	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs539381933	chr2:178717830-178717831	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs1898588	chr2:178717838-178717839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149921477	chr2:178717841-178717842	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs541552658	chr2:178717843-178717844	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs80156197	chr2:178717862-178717863	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs386391943	chr2:178717863-178717864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs373119384	chr2:178717868-178717869	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs386355425	chr2:178717869-178717870	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs183720706	chr2:178717872-178717873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs555192053	chr2:178717950-178717951	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs183966518	chr2:178717992-178717993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs540964814	chr2:178718034-178718035	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs190603605	chr2:178718058-178718059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs73038297	chr2:178718059-178718060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540804896	chr2:178718060-178718061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs16865852	chr2:178718072-178718073	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs79236562	chr2:178718101-178718102	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs529428099	chr2:178718120-178718121	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs144951350	chr2:178718132-178718133	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs116189739	chr2:178718170-178718171	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs540647075	chr2:178718244-178718245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139839100	chr2:178718285-178718286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542878589	chr2:178718296-178718297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369574264	chr2:178718298-178718299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552115601	chr2:178718308-178718309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377688444	chr2:178718311-178718312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377377224	chr2:178718363-178718364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182267941	chr2:178718366-178718367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372551861	chr2:178718398-178718399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7605985	chr2:178718407-178718408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10930815	chr2:178718409-178718410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541097637	chr2:178718411-178718412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200275089	chr2:178718431-178718432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369742870	chr2:178718433-178718434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201564363	chr2:178718436-178718437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10209852	chr2:178718437-178718438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71010825	chr2:178718439-178718440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10175142	chr2:178718441-178718442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112252727	chr2:178718446-178718447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145422480	chr2:178718451-178718452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178716600-178717800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:178716600-178718200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:178716800-178718000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:178717000-178720600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:178717000-178720800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:178717400-178719400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:178717600-178718200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr2:178717800-178718200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:178718200-178718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:178718600-178719200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:178719200-178720000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:178719400-178719600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:178719400-178721000	Enhancers	Adipose Nuclei	Adipose
14	chr2:178719600-178721000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:178719600-178721000	Enhancers	Liver	Liver

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