Variant report

Variant	esv1812274
Chromosome Location	chr4:8621252-8639187
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	chr4:8472717..8474725-chr4:8621251..8624026,2	K562	blood:

Extended variants
information (count: 150 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377021105	chr4:8621257-8621258	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116644918	chr4:8621262-8621263	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148258197	chr4:8621263-8621264	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61734024	chr4:8621269-8621270	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs202089730	chr4:8621270-8621271	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370337185	chr4:8621289-8621290	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150753715	chr4:8621294-8621295	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372696621	chr4:8621297-8621298	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139174553	chr4:8621305-8621306	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1804807	chr4:8621309-8621310	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144001774	chr4:8621310-8621311	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145930254	chr4:8621324-8621325	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139764678	chr4:8621326-8621327	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200993349	chr4:8621328-8621329	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200000482	chr4:8621332-8621333	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201944132	chr4:8621342-8621343	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13101888	chr4:8621348-8621349	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113480722	chr4:8621349-8621350	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112995933	chr4:8621351-8621352	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368313866	chr4:8621353-8621354	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201004473	chr4:8621362-8621363	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572672412	chr4:8621378-8621379	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201287825	chr4:8621379-8621380	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397839518	chr4:8621385-8621386	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1050464	chr4:8621386-8621387	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1050465	chr4:8621392-8621393	Strong transcription Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11522	chr4:8621397-8621398	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543507589	chr4:8621398-8621399	Strong transcription Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61482103	chr4:8621420-8621421	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs568723319	chr4:8621423-8621424	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532967239	chr4:8621425-8621426	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373647438	chr4:8621445-8621446	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190728963	chr4:8621446-8621447	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527569972	chr4:8621467-8621468	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6816032	chr4:8621480-8621481	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567253848	chr4:8621483-8621484	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386671399	chr4:8621489-8621490	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182517105	chr4:8621494-8621495	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571331501	chr4:8621499-8621500	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539258907	chr4:8621519-8621520	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114614716	chr4:8621524-8621525	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188311196	chr4:8621534-8621535	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536941649	chr4:8621535-8621536	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57995089	chr4:8621566-8621567	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554712450	chr4:8621582-8621583	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2241066	chr4:8621590-8621591	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566474265	chr4:8621598-8621599	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565051030	chr4:8621623-8621624	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576896978	chr4:8621633-8621634	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76516579	chr4:8621649-8621650	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Melanoma	20688739	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8596000-8622800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:8596000-8623200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:8601800-8622000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:8610400-8622000	Strong transcription	Placenta	Placenta
5	chr4:8611800-8622000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
7	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:8616600-8623000	Weak transcription	Osteobl	bone
11	chr4:8617200-8621400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
14	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:8619800-8622000	Strong transcription	Ovary	ovary
18	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
20	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:8621200-8621400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
32	chr4:8622000-8623800	Weak transcription	Ovary	ovary
33	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion

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