Variant report

Variant	nsv1013419
Chromosome Location	chr4:104220092-104247922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 771 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555548497	chr4:104220096-104220097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112293491	chr4:104220116-104220117	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
3	rs34369910	chr4:104220148-104220149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28837409	chr4:104220155-104220156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs557916207	chr4:104220171-104220172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532144525	chr4:104220184-104220185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543855469	chr4:104220234-104220235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187479057	chr4:104220271-104220272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191107577	chr4:104220281-104220282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7691176	chr4:104220288-104220289	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183657425	chr4:104220298-104220299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114783356	chr4:104220299-104220300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149420421	chr4:104220334-104220335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571637916	chr4:104220383-104220384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78910893	chr4:104220393-104220394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6533079	chr4:104220394-104220395	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs35486832	chr4:104220405-104220406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550681455	chr4:104220465-104220466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568850036	chr4:104220469-104220470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536158686	chr4:104220500-104220501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554417127	chr4:104220517-104220518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549753743	chr4:104220529-104220530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572705308	chr4:104220580-104220581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147511865	chr4:104220583-104220584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77396042	chr4:104220627-104220628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558659987	chr4:104220635-104220636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576863048	chr4:104220644-104220645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544228481	chr4:104220653-104220654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187937722	chr4:104220691-104220692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140070788	chr4:104220694-104220695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543345290	chr4:104220775-104220776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192131130	chr4:104220851-104220852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184715989	chr4:104220854-104220855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546873544	chr4:104220877-104220878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528047597	chr4:104220878-104220879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530311273	chr4:104220883-104220884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565403207	chr4:104220903-104220904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145481382	chr4:104220977-104220978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551021945	chr4:104221136-104221137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111419981	chr4:104221143-104221144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71596394	chr4:104221152-104221153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397706512	chr4:104221160-104221161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568935111	chr4:104221182-104221183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6855786	chr4:104221205-104221206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114814031	chr4:104221303-104221304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572190889	chr4:104221338-104221339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536195053	chr4:104221346-104221347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566421055	chr4:104221376-104221377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534039614	chr4:104221464-104221465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558456834	chr4:104221578-104221579	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:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
2	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:104224000-104224800	Enhancers	HMEC	breast
16	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:104224200-104224400	Enhancers	HepG2	liver
19	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:104224400-104226600	Weak transcription	HepG2	liver
21	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:104224800-104226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:104224800-104227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:104224800-104227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:104224800-104227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr4:104225000-104227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:104225800-104228800	Enhancers	Placenta	Placenta
33	chr4:104226200-104226600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:104226400-104228600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:104226600-104227000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:104226600-104227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:104226600-104227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:104226600-104227600	Enhancers	HepG2	liver
39	chr4:104226600-104229000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:104226600-104229000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:104226600-104229800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:104226800-104227200	Enhancers	Fetal Stomach	stomach
43	chr4:104226800-104227800	Enhancers	Fetal Intestine Small	intestine
44	chr4:104226800-104229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:104226800-104229400	Enhancers	Fetal Muscle Leg	muscle
46	chr4:104226800-104229600	Enhancers	Fetal Muscle Trunk	muscle
47	chr4:104227000-104227200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:104227000-104227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:104227000-104227800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr4:104227000-104228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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