Variant report

Variant	esv3349271
Chromosome Location	chr4:8620852-8639650
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:
2	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540063642	chr4:8620854-8620855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147068997	chr4:8620856-8620857	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534272497	chr4:8620867-8620868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13132404	chr4:8620873-8620874	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529434430	chr4:8620884-8620885	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79904859	chr4:8620916-8620917	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76323741	chr4:8620935-8620936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111387731	chr4:8620944-8620945	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116242881	chr4:8620954-8620955	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186142009	chr4:8620956-8620957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557309600	chr4:8620966-8620967	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115406813	chr4:8620981-8620982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539941540	chr4:8620984-8620985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201449741	chr4:8620991-8620992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574152804	chr4:8620999-8621000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201311801	chr4:8621010-8621011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372593429	chr4:8621028-8621029	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563199677	chr4:8621048-8621049	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148286815	chr4:8621055-8621056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373726794	chr4:8621056-8621057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142996350	chr4:8621059-8621060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112947342	chr4:8621060-8621061	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201254824	chr4:8621063-8621064	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367660703	chr4:8621064-8621065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34198410	chr4:8621065-8621066	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527836142	chr4:8621084-8621085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34486568	chr4:8621089-8621090	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200426751	chr4:8621090-8621091	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113699437	chr4:8621094-8621095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147183461	chr4:8621111-8621112	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139520158	chr4:8621112-8621113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563491247	chr4:8621118-8621119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149680311	chr4:8621123-8621124	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144492587	chr4:8621127-8621128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375592984	chr4:8621132-8621133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550722890	chr4:8621135-8621136	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61734019	chr4:8621137-8621138	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201198309	chr4:8621138-8621139	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376041091	chr4:8621139-8621140	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370761733	chr4:8621146-8621147	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs267600282	chr4:8621152-8621153	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9342	chr4:8621167-8621168	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566126418	chr4:8621168-8621169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143979607	chr4:8621171-8621172	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61734020	chr4:8621172-8621173	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568910839	chr4:8621174-8621175	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140703146	chr4:8621179-8621180	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144420459	chr4:8621188-8621189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151079768	chr4:8621189-8621190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140991725	chr4:8621193-8621194	Strong transcription Weak transcription	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:38 , 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	chr4:8618000-8621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:8619000-8621200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr4:8619800-8622000	Strong transcription	Ovary	ovary
20	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
22	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:8621200-8621400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
34	chr4:8622000-8623800	Weak transcription	Ovary	ovary
35	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:8639400-8639600	Enhancers	Ovary	ovary
38	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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