Variant report

Variant	esv3403505
Chromosome Location	chr4:69269657-69273955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545019840	chr4:69269667-69269668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575857126	chr4:69269670-69269671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544543145	chr4:69269681-69269682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4058193	chr4:69269738-69269739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142641541	chr4:69269754-69269755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564135391	chr4:69269757-69269758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577641080	chr4:69269758-69269759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4058194	chr4:69269785-69269786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368244417	chr4:69269786-69269787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530873166	chr4:69269806-69269807	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190939788	chr4:69269883-69269884	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565003973	chr4:69269902-69269903	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs62317488	chr4:69269904-69269905	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560395320	chr4:69269935-69269936	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs139913554	chr4:69270039-69270040	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs375020247	chr4:69270090-69270091	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182755764	chr4:69270128-69270129	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562765179	chr4:69270195-69270196	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550896864	chr4:69270212-69270213	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143729874	chr4:69270219-69270220	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188224896	chr4:69270223-69270224	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192724611	chr4:69270224-69270225	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35516362	chr4:69270233-69270234	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs529914185	chr4:69270245-69270246	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139264295	chr4:69270281-69270282	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184170025	chr4:69270316-69270317	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149973790	chr4:69270319-69270320	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145410851	chr4:69270348-69270349	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149231732	chr4:69270349-69270350	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546750934	chr4:69270393-69270394	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369729482	chr4:69270404-69270405	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146902506	chr4:69270443-69270444	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147939818	chr4:69270449-69270450	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141729907	chr4:69270469-69270470	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538640642	chr4:69270475-69270476	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577579034	chr4:69270476-69270477	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145894076	chr4:69270491-69270492	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554194720	chr4:69270555-69270556	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574063761	chr4:69270565-69270566	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148211341	chr4:69270578-69270579	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562541483	chr4:69270632-69270633	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140102879	chr4:69270646-69270647	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377429150	chr4:69270665-69270666	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369905097	chr4:69270703-69270704	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545308711	chr4:69270717-69270718	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187444463	chr4:69270725-69270726	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62317489	chr4:69270740-69270741	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547086341	chr4:69270745-69270746	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567294757	chr4:69270835-69270836	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569207686	chr4:69270915-69270916	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:70 , 50 per page) page: 1 2

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	chr4:69264600-69270200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:69265000-69270200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:69269000-69270200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:69269000-69271000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:69269200-69271800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:69269400-69269800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:69269400-69270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:69269600-69269800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:69269600-69270000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:69269800-69270200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:69269800-69271800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:69270000-69270200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:69270000-69270200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:69270200-69271000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr4:69270200-69271200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:69270200-69271400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr4:69270200-69271400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:69270200-69271400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:69270200-69271600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:69270200-69271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:69270200-69271600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:69270200-69271800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:69270200-69273200	Weak transcription	Right Atrium	heart
26	chr4:69270200-69273400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:69270800-69271000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr4:69271000-69271200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:69271000-69271400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:69271200-69271800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:69271200-69272000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:69271200-69272000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:69271400-69271800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:69271400-69272000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:69271400-69272200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:69271400-69274400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:69271400-69274400	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr4:69271600-69272800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:69271600-69274200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr4:69271600-69274200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr4:69271800-69272000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr4:69271800-69272400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:69271800-69272400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:69271800-69272600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr4:69271800-69272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:69272000-69272400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:69272000-69272600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr4:69272000-69273000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:69272000-69273800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:69272000-69275000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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