Variant report

Variant	nsv533846
Chromosome Location	chr4:94264488-94462921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:94379637..94382212-chr4:94394360..94396152,2	K562	blood:
2	chr4:94316647..94319679-chr4:94319993..94322842,3	K562	blood:
3	chr4:94316647..94319679-chr4:94319993..94322842,3	K562	blood:
4	chr4:94259967..94262049-chr4:94263845..94266211,2	K562	blood:
5	chr4:94379637..94382212-chr4:94394360..94396152,2	K562	blood:

Extended variants
information (count: 5210 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:5210 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530643162	chr4:94273210-94273211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373223246	chr4:94273231-94273232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76917358	chr4:94273263-94273264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181092896	chr4:94273271-94273272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185747880	chr4:94273272-94273273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75465270	chr4:94273308-94273309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2870699	chr4:94273330-94273331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs534675349	chr4:94273347-94273348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554566140	chr4:94273348-94273349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79704323	chr4:94273354-94273355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189822293	chr4:94273405-94273406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183043830	chr4:94273406-94273407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557074877	chr4:94273440-94273441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577365115	chr4:94273456-94273457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546383741	chr4:94273459-94273460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571887405	chr4:94273483-94273484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568811551	chr4:94273494-94273495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1368715	chr4:94273505-94273506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62307824	chr4:94273528-94273529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187117707	chr4:94273529-94273530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554385510	chr4:94273536-94273537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72876971	chr4:94273569-94273570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572941211	chr4:94273585-94273586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561644469	chr4:94273657-94273658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532008905	chr4:94273704-94273705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554434537	chr4:94273716-94273717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572958226	chr4:94273772-94273773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544313208	chr4:94273775-94273776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114204960	chr4:94273778-94273779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17020487	chr4:94273787-94273788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs546783118	chr4:94273791-94273792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376992465	chr4:94273802-94273803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566627228	chr4:94273822-94273823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1433659	chr4:94273831-94273832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548901352	chr4:94273883-94273884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112344193	chr4:94273901-94273902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373034781	chr4:94273962-94273963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550172764	chr4:94273963-94273964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62307825	chr4:94274097-94274098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77636098	chr4:94274112-94274113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570936286	chr4:94274118-94274119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539609594	chr4:94274133-94274134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553550105	chr4:94274199-94274200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573383734	chr4:94274207-94274208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562406891	chr4:94274313-94274314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192430499	chr4:94274326-94274327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376690958	chr4:94274337-94274338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556135108	chr4:94274351-94274352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17020492	chr4:94274393-94274394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544230554	chr4:94274395-94274396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
lymphocytic leukemia	21291569	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	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
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94273200-94274000	Enhancers	Fetal Intestine Large	intestine
2	chr4:94274000-94276400	Weak transcription	Fetal Intestine Large	intestine
3	chr4:94274200-94275000	Enhancers	Fetal Intestine Small	intestine
4	chr4:94275000-94276400	Weak transcription	Fetal Intestine Small	intestine
5	chr4:94276200-94277200	Enhancers	Stomach Mucosa	stomach
6	chr4:94276400-94276800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:94276400-94277200	Enhancers	Fetal Intestine Large	intestine
8	chr4:94276400-94277200	Enhancers	Fetal Intestine Small	intestine
9	chr4:94276600-94276800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:94277200-94280400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:94280000-94281000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:94280400-94280600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:94280600-94280800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:94280600-94285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:94280800-94282000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:94282000-94284000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:94283400-94283600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:94283600-94283800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:94283800-94284000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:94284000-94285600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:94285400-94286800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:94285600-94285800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:94285800-94286000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr4:94285800-94286600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
25	chr4:94285800-94286800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr4:94286000-94286400	Enhancers	Hela-S3	cervix
27	chr4:94286000-94286800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:94286000-94287000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:94286200-94286800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr4:94286600-94286800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:94286600-94287000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:94286800-94287000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:94286800-94287000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:94286800-94288200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:94286800-94288800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:94287000-94287400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:94287000-94287800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr4:94287000-94288000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr4:94287000-94288600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:94287200-94287600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:94287400-94287600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr4:94287400-94288000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:94287600-94288200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:94287600-94290400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:94287800-94289000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:94288000-94288600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr4:94288000-94290600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:94288200-94289000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr4:94288200-94290200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:94288600-94290200	Enhancers	HUES6 Cell Line	embryonic stem cell

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