Variant report

Variant	esv1823727
Chromosome Location	chr4:8621452-8639758
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: 131 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527569972	chr4:8621467-8621468	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6816032	chr4:8621480-8621481	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567253848	chr4:8621483-8621484	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386671399	chr4:8621489-8621490	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182517105	chr4:8621494-8621495	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571331501	chr4:8621499-8621500	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539258907	chr4:8621519-8621520	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114614716	chr4:8621524-8621525	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188311196	chr4:8621534-8621535	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536941649	chr4:8621535-8621536	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57995089	chr4:8621566-8621567	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554712450	chr4:8621582-8621583	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	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
14	rs566474265	chr4:8621598-8621599	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565051030	chr4:8621623-8621624	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576896978	chr4:8621633-8621634	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76516579	chr4:8621649-8621650	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560287811	chr4:8621650-8621651	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372300532	chr4:8621652-8621653	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190732485	chr4:8621663-8621664	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549266028	chr4:8621694-8621695	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192792211	chr4:8621710-8621711	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143215272	chr4:8621715-8621716	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531349839	chr4:8621732-8621733	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116156695	chr4:8621738-8621739	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571394717	chr4:8621739-8621740	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538721505	chr4:8621744-8621745	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76560003	chr4:8621747-8621748	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547714656	chr4:8621749-8621750	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182736771	chr4:8621753-8621754	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373355140	chr4:8621779-8621780	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376835545	chr4:8621784-8621785	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115997046	chr4:8621787-8621788	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535552517	chr4:8621800-8621801	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557444111	chr4:8621805-8621806	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576623897	chr4:8621816-8621817	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537609072	chr4:8621825-8621826	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148377241	chr4:8621851-8621852	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576966167	chr4:8621854-8621855	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541126288	chr4:8621861-8621862	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575534963	chr4:8621866-8621867	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73215205	chr4:8621867-8621868	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141600312	chr4:8621869-8621870	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150480358	chr4:8621874-8621875	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542423619	chr4:8621884-8621885	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564768685	chr4:8621887-8621888	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561257952	chr4:8621891-8621892	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373153823	chr4:8621894-8621895	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138441619	chr4:8621905-8621906	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529911019	chr4:8621906-8621907	Weak transcription Genic enhancers Strong 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:34 , 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	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
13	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr4:8619800-8622000	Strong transcription	Ovary	ovary
17	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
19	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
30	chr4:8622000-8623800	Weak transcription	Ovary	ovary
31	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:8639400-8639600	Enhancers	Ovary	ovary
34	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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