Variant report

Variant	esv2760915
Chromosome Location	chr4:104195451-104249405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:
2	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
3	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
4	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
5	chr4:104181685..104183408-chr4:104209717..104212156,2	K562	blood:
6	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:

Extended variants
information (count: 1583 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1583 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576255184	chr4:104195462-104195463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543251916	chr4:104195473-104195474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561914903	chr4:104195532-104195533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6833125	chr4:104195534-104195535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541110530	chr4:104195567-104195568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559417810	chr4:104195638-104195639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532978652	chr4:104195641-104195642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551321651	chr4:104195655-104195656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7675930	chr4:104195678-104195679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531986528	chr4:104195701-104195702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550155348	chr4:104195716-104195717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6833011	chr4:104195731-104195732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535589261	chr4:104195744-104195745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375323209	chr4:104195779-104195780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62329008	chr4:104195799-104195800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547466400	chr4:104195826-104195827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565811117	chr4:104195844-104195845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539468171	chr4:104195852-104195853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558082150	chr4:104195856-104195857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184941402	chr4:104195861-104195862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189052939	chr4:104195908-104195909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377072022	chr4:104195936-104195937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555304888	chr4:104195987-104195988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386677965	chr4:104195995-104195996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184541486	chr4:104195996-104195997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189494378	chr4:104196017-104196018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12498203	chr4:104196035-104196036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544682408	chr4:104196036-104196037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7681410	chr4:104196037-104196038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531953544	chr4:104196095-104196096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9683416	chr4:104196139-104196140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs561975549	chr4:104196182-104196183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181552539	chr4:104196185-104196186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575070514	chr4:104196189-104196190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547983127	chr4:104196198-104196199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149028498	chr4:104196202-104196203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185983790	chr4:104196221-104196222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368196187	chr4:104196225-104196226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565849213	chr4:104196234-104196235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6816334	chr4:104196247-104196248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370422297	chr4:104196251-104196252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6839026	chr4:104196278-104196279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs570015383	chr4:104196318-104196319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536971785	chr4:104196320-104196321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72666848	chr4:104196322-104196323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563889505	chr4:104196351-104196352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181157027	chr4:104196352-104196353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72950043	chr4:104196361-104196362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546269811	chr4:104196362-104196363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186654356	chr4:104196365-104196366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104192800-104200800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:104194600-104202600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:104197800-104198200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:104197800-104198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:104198000-104198200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
7	chr4:104210200-104210600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:104213400-104214400	Enhancers	HMEC	breast
9	chr4:104213600-104213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:104214200-104214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:104215000-104216800	Enhancers	HepG2	liver
14	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:104224000-104224800	Enhancers	HMEC	breast
29	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:104224200-104224400	Enhancers	HepG2	liver
32	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:104224400-104226600	Weak transcription	HepG2	liver
34	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:104224800-104226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:104224800-104227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:104224800-104227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:104224800-104227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:104225000-104227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr4:104225800-104228800	Enhancers	Placenta	Placenta
46	chr4:104226200-104226600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:104226400-104228600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr4:104226600-104227000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:104226600-104227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:104226600-104227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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