Variant report

Variant	esv1809673
Chromosome Location	chr4:69260061-69304927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
2	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
3	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:

Extended variants
information (count: 1821 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1821 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144489092	chr4:69260063-69260064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543265872	chr4:69260064-69260065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146107671	chr4:69260078-69260079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4860939	chr4:69260094-69260095	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545740858	chr4:69260100-69260101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549405638	chr4:69260106-69260107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559075045	chr4:69260142-69260143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144023589	chr4:69260149-69260150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144958649	chr4:69260194-69260195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148606067	chr4:69260286-69260287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530204764	chr4:69260306-69260307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550110459	chr4:69260337-69260338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570291148	chr4:69260346-69260347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569611121	chr4:69260437-69260438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142079827	chr4:69260451-69260452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151219880	chr4:69260453-69260454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566060734	chr4:69260459-69260460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535055788	chr4:69260493-69260494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187012005	chr4:69260509-69260510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112934653	chr4:69260544-69260545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560160854	chr4:69260545-69260546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554746805	chr4:69260552-69260553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543555244	chr4:69260600-69260601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190203376	chr4:69260637-69260638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182472065	chr4:69260640-69260641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185810070	chr4:69260658-69260659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374843372	chr4:69260662-69260663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147011410	chr4:69260683-69260684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528062017	chr4:69260692-69260693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541447396	chr4:69260820-69260821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572995886	chr4:69260872-69260873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112987451	chr4:69260896-69260897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142188203	chr4:69260903-69260904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113302240	chr4:69260906-69260907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550692448	chr4:69260919-69260920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570149568	chr4:69260920-69260921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532770767	chr4:69260956-69260957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138837015	chr4:69261003-69261004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566393588	chr4:69261011-69261012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534985770	chr4:69261043-69261044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534538882	chr4:69261058-69261059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1919899	chr4:69261067-69261068	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568523934	chr4:69261129-69261130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537137683	chr4:69261146-69261147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557474950	chr4:69261147-69261148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189651773	chr4:69261154-69261155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539654083	chr4:69261155-69261156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552813921	chr4:69261203-69261204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572805677	chr4:69261223-69261224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541384153	chr4:69261232-69261233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69255600-69260600	Weak transcription	Fetal Intestine Small	intestine
2	chr4:69255800-69270200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:69256200-69260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:69256400-69261600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:69257400-69263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:69257400-69272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:69258000-69269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:69260000-69260200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:69260200-69260400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:69260200-69263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:69260400-69261200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:69260600-69265200	Enhancers	Fetal Intestine Small	intestine
13	chr4:69261600-69265400	Enhancers	Fetal Intestine Large	intestine
14	chr4:69262200-69264000	Enhancers	Placenta	Placenta
15	chr4:69263600-69265000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:69263800-69264400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:69263800-69264600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:69264000-69264400	Weak transcription	Placenta	Placenta
19	chr4:69264200-69264600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:69264400-69265400	Enhancers	Placenta	Placenta
21	chr4:69264400-69269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:69264600-69269000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:69264600-69270200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:69265000-69270200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:69265400-69267400	Weak transcription	Placenta	Placenta
26	chr4:69266600-69267800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:69267400-69268200	Enhancers	Placenta	Placenta
28	chr4:69269000-69269600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:69269000-69270200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:69269000-69271000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:69269200-69269400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:69269200-69269400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:69269200-69269600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr4:69269200-69271800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:69269400-69269800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:69269400-69270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:69269600-69269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:69269600-69270000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:69269800-69270200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:69269800-69271800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:69270000-69270200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:69270000-69270200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:69270200-69271000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr4:69270200-69271200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:69270200-69271400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr4:69270200-69271400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:69270200-69271400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:69270200-69271600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:69270200-69271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:69270200-69271600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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