Variant report

Variant	nsv437408
Chromosome Location	chr4:104200229-104254009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104181685..104183408-chr4:104209717..104212156,2	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	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:
6	chr4:104250850..104252961-chr4:104254841..104257774,2	K562	blood:
7	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:

Extended variants
information (count: 1351 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1351 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6533076	chr4:104200229-104200230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531809711	chr4:104200241-104200242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78228995	chr4:104200248-104200249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575940804	chr4:104200291-104200292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529335166	chr4:104200292-104200293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111280530	chr4:104200310-104200311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536743333	chr4:104200328-104200329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535969629	chr4:104200329-104200330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555052211	chr4:104200335-104200336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558057301	chr4:104200345-104200346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183279441	chr4:104200402-104200403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149030881	chr4:104200418-104200419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143838854	chr4:104200454-104200455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573828803	chr4:104200493-104200494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541106681	chr4:104200504-104200505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552729122	chr4:104200540-104200541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577582313	chr4:104200617-104200618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544649829	chr4:104200664-104200665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564804200	chr4:104200681-104200682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201244910	chr4:104200686-104200687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189059689	chr4:104200717-104200718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543648352	chr4:104200745-104200746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191410227	chr4:104200761-104200762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539644088	chr4:104200771-104200772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529373792	chr4:104200776-104200777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547851564	chr4:104200795-104200796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183812167	chr4:104200825-104200826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187978555	chr4:104200844-104200845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551449562	chr4:104200878-104200879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570008485	chr4:104200897-104200898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537342398	chr4:104200901-104200902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10028477	chr4:104200933-104200934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567455028	chr4:104200937-104200938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374811666	chr4:104200955-104200956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534485452	chr4:104201079-104201080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553055251	chr4:104201094-104201095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191812262	chr4:104201118-104201119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141083917	chr4:104201121-104201122	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs556673658	chr4:104201130-104201131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145112892	chr4:104201164-104201165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55677840	chr4:104201168-104201169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397700669	chr4:104201169-104201170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543683182	chr4:104201190-104201191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561977779	chr4:104201195-104201196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182155270	chr4:104201273-104201274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541221926	chr4:104201276-104201277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559808927	chr4:104201280-104201281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186549486	chr4:104201296-104201297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554965086	chr4:104201337-104201338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563651947	chr4:104201374-104201375	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:146 , 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	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
4	chr4:104210200-104210600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:104213400-104214400	Enhancers	HMEC	breast
6	chr4:104213600-104213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:104214200-104214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:104215000-104216800	Enhancers	HepG2	liver
11	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:104224000-104224800	Enhancers	HMEC	breast
26	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:104224200-104224400	Enhancers	HepG2	liver
29	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:104224400-104226600	Weak transcription	HepG2	liver
31	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:104224800-104226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:104224800-104227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:104224800-104227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:104224800-104227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:104225000-104227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:104225800-104228800	Enhancers	Placenta	Placenta
43	chr4:104226200-104226600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:104226400-104228600	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:104226600-104227000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:104226600-104227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:104226600-104227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:104226600-104227600	Enhancers	HepG2	liver
49	chr4:104226600-104229000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:104226600-104229000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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