Variant report

Variant	esv3467565
Chromosome Location	chr4:21367454-21373252
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	chr4:21372485..21375089-chr4:21376184..21378296,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533069160	chr4:21367470-21367471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551451047	chr4:21367472-21367473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563394430	chr4:21367504-21367505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540934505	chr4:21367559-21367560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530658019	chr4:21367627-21367628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369375428	chr4:21367638-21367639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549143782	chr4:21367658-21367659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73802588	chr4:21367669-21367670	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534575644	chr4:21367688-21367689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189692698	chr4:21367703-21367704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111290299	chr4:21367708-21367709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182926344	chr4:21367727-21367728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539547382	chr4:21367792-21367793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369587350	chr4:21367841-21367842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150915629	chr4:21367896-21367897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547947022	chr4:21367901-21367902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1390259	chr4:21367902-21367903	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377544422	chr4:21367931-21367932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139415578	chr4:21367962-21367963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528402113	chr4:21367993-21367994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559394994	chr4:21368001-21368002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547776494	chr4:21368002-21368003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142670615	chr4:21368018-21368019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545010916	chr4:21368035-21368036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563272220	chr4:21368108-21368109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59708864	chr4:21368139-21368140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369850058	chr4:21368159-21368160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373190271	chr4:21368210-21368211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561101208	chr4:21368284-21368285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560574977	chr4:21368301-21368302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2323001	chr4:21368339-21368340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs571204217	chr4:21368437-21368438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187880612	chr4:21368440-21368441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530478924	chr4:21368451-21368452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73802589	chr4:21368474-21368475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75979557	chr4:21368510-21368511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139522190	chr4:21368515-21368516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35540426	chr4:21368537-21368538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540061128	chr4:21368552-21368553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145164689	chr4:21368603-21368604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192871132	chr4:21368631-21368632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535229335	chr4:21368641-21368642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547244769	chr4:21368667-21368668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553744303	chr4:21368687-21368688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566340180	chr4:21368711-21368712	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21363400-21367600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:21364000-21368400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:21364200-21368000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:21365000-21367600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:21367200-21368800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:21367400-21368600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:21367400-21368800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:21367600-21368400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:21367600-21368600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:21367600-21368600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:21367800-21368000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:21367800-21368600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:21368000-21368400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:21368000-21368400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:21368400-21368800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:21368600-21368800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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