Variant report

Variant	esv3467549
Chromosome Location	chr4:8620052-8640450
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	chr4:8639250..8640927-chr4:8642390..8645117,2	K562	blood:
2	chr4:8472717..8474725-chr4:8621251..8624026,2	K562	blood:

Extended variants
information (count: 314 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35247959	chr4:8620053-8620054	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs559434229	chr4:8620058-8620059	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529704711	chr4:8620072-8620073	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs151224820	chr4:8620081-8620082	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs563420975	chr4:8620086-8620087	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs530501799	chr4:8620087-8620088	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs552390249	chr4:8620095-8620096	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs7670383	chr4:8620103-8620104	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528807156	chr4:8620105-8620106	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs79710873	chr4:8620109-8620110	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs375960282	chr4:8620112-8620113	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs552297031	chr4:8620122-8620123	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs115718188	chr4:8620123-8620124	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs368236229	chr4:8620126-8620127	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs201158431	chr4:8620127-8620128	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs370805187	chr4:8620133-8620134	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs541089770	chr4:8620151-8620152	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs12650877	chr4:8620153-8620154	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530014058	chr4:8620154-8620155	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs139176210	chr4:8620163-8620164	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs368940436	chr4:8620165-8620166	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs368747648	chr4:8620167-8620168	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs146874641	chr4:8620172-8620173	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs140681534	chr4:8620192-8620193	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs1804806	chr4:8620194-8620195	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs138232433	chr4:8620195-8620196	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs199625164	chr4:8620201-8620202	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs371380953	chr4:8620204-8620205	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs111747511	chr4:8620212-8620213	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs116114355	chr4:8620218-8620219	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs375974880	chr4:8620233-8620234	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs200918270	chr4:8620237-8620238	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs143243881	chr4:8620238-8620239	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs367705212	chr4:8620245-8620246	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs371901059	chr4:8620263-8620264	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs376882526	chr4:8620264-8620265	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs577106046	chr4:8620274-8620275	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs199936631	chr4:8620275-8620276	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs564001800	chr4:8620276-8620277	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs3214356	chr4:8620285-8620286	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs553249668	chr4:8620287-8620288	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs574620736	chr4:8620312-8620313	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs572427565	chr4:8620313-8620314	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs4696872	chr4:8620325-8620326	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184502022	chr4:8620378-8620379	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs190612360	chr4:8620391-8620392	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs530671902	chr4:8620394-8620395	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs113855221	chr4:8620395-8620396	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs563792664	chr4:8620435-8620436	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs539535743	chr4:8620440-8620441	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:45 , 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	chr4:8601600-8620200	Weak transcription	NHDF-Ad	bronchial
4	chr4:8601800-8622000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:8610400-8620400	Weak transcription	Right Atrium	heart
6	chr4:8610400-8622000	Strong transcription	Placenta	Placenta
7	chr4:8611800-8620400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:8611800-8622000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:8611800-8622800	Weak transcription	Spleen	Spleen
10	chr4:8613000-8623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:8613800-8623000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:8616200-8623200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:8616600-8623000	Weak transcription	Osteobl	bone
14	chr4:8617200-8621400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:8617800-8622400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:8617800-8623200	Weak transcription	HSMMtube	muscle
17	chr4:8618000-8621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:8618400-8620600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:8618600-8620400	Enhancers	Adipose Nuclei	Adipose
20	chr4:8619000-8621200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:8619000-8623600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:8619200-8622000	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr4:8619400-8621800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr4:8619800-8622000	Strong transcription	Ovary	ovary
25	chr4:8620000-8620400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:8620200-8620600	Weak transcription	Fetal Stomach	stomach
27	chr4:8620400-8621600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:8620600-8621600	Strong transcription	Fetal Stomach	stomach
29	chr4:8621000-8621800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:8621200-8621400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:8621400-8621800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:8621400-8623200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:8621600-8621800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:8621800-8622000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:8621800-8623400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:8621800-8623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:8622000-8623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:8622000-8623600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:8622000-8623800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:8622000-8623800	Weak transcription	Placenta	Placenta
41	chr4:8622000-8623800	Weak transcription	Ovary	ovary
42	chr4:8622000-8623800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:8639400-8639600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:8639400-8639600	Enhancers	Ovary	ovary
45	chr4:8639600-8639800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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