Variant report

Variant	nsv963607
Chromosome Location	chr4:69266112-69297555
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	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
2	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:

Extended variants
information (count: 1312 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1312 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567792470	chr4:69266153-69266154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559065148	chr4:69266179-69266180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536637419	chr4:69266213-69266214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77594781	chr4:69266225-69266226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553138240	chr4:69266302-69266303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188090061	chr4:69266325-69266326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572573850	chr4:69266333-69266334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4860295	chr4:69266379-69266380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143411891	chr4:69266388-69266389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368549567	chr4:69266469-69266470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193146382	chr4:69266510-69266511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147127298	chr4:69266514-69266515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140304515	chr4:69266538-69266539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545418055	chr4:69266614-69266615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559219506	chr4:69266623-69266624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372270425	chr4:69266639-69266640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141309242	chr4:69266640-69266641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547922427	chr4:69266643-69266644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150803548	chr4:69266717-69266718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537536297	chr4:69266839-69266840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139135323	chr4:69266861-69266862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544432406	chr4:69266896-69266897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563029091	chr4:69266919-69266920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185318051	chr4:69266928-69266929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528998316	chr4:69267017-69267018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35899469	chr4:69267055-69267056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71671424	chr4:69267056-69267057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201048003	chr4:69267058-69267059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189159578	chr4:69267106-69267107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552611811	chr4:69267141-69267142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566117850	chr4:69267147-69267148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535116611	chr4:69267160-69267161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555070699	chr4:69267172-69267173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559041284	chr4:69267185-69267186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574533295	chr4:69267195-69267196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537268636	chr4:69267221-69267222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556949701	chr4:69267255-69267256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552264550	chr4:69267259-69267260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4860940	chr4:69267269-69267270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545353629	chr4:69267344-69267345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558915678	chr4:69267347-69267348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541432117	chr4:69267405-69267406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146574363	chr4:69267421-69267422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564164240	chr4:69267443-69267444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561836722	chr4:69267444-69267445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181878548	chr4:69267469-69267470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528100603	chr4:69267529-69267530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550351516	chr4:69267546-69267547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563786492	chr4:69267558-69267559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532843645	chr4:69267564-69267565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69255800-69270200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:69257400-69272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:69258000-69269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:69264400-69269200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:69264600-69269000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:69264600-69270200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:69265000-69270200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:69265400-69267400	Weak transcription	Placenta	Placenta
9	chr4:69266600-69267800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:69267400-69268200	Enhancers	Placenta	Placenta
11	chr4:69269000-69269600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:69269000-69270200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:69269000-69271000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:69269200-69269400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:69269200-69269400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:69269200-69269600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:69269200-69271800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:69269400-69269800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:69269400-69270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:69269600-69269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:69269600-69270000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:69269800-69270200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:69269800-69271800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:69270000-69270200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:69270000-69270200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:69270200-69271000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr4:69270200-69271200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:69270200-69271400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:69270200-69271400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr4:69270200-69271400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:69270200-69271600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:69270200-69271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:69270200-69271600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr4:69270200-69271800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:69270200-69273200	Weak transcription	Right Atrium	heart
36	chr4:69270200-69273400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:69270800-69271000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr4:69271000-69271200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr4:69271000-69271400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:69271200-69271800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:69271200-69272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:69271200-69272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:69271400-69271800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:69271400-69272000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:69271400-69272200	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr4:69271400-69274400	Active TSS	H9 Cell Line	embryonic stem cell
47	chr4:69271400-69274400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:69271600-69272800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:69271600-69274200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr4:69271600-69274200	Active TSS	HUES6 Cell Line	embryonic stem cell

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