Variant report

Variant	nsv879609
Chromosome Location	chr4:93489287-93596167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:93539970..93542462-chr4:93545753..93548309,2	K562	blood:
2	chr4:93539970..93542462-chr4:93545753..93548309,2	K562	blood:
3	chr4:93230221..93231021-chr4:93539897..93540682,3	MCF-7	breast:
4	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:
5	chr4:93577929..93580454-chr4:93584774..93587320,2	K562	blood:

Extended variants
information (count: 4312 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:4312 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7682842	chr4:93489287-93489288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144168692	chr4:93489312-93489313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572619753	chr4:93489326-93489327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145079677	chr4:93489376-93489377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555070291	chr4:93489408-93489409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575890487	chr4:93489489-93489490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188481410	chr4:93489492-93489493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564653108	chr4:93489501-93489502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191656829	chr4:93489520-93489521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371301013	chr4:93489556-93489557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184123645	chr4:93489565-93489566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560534563	chr4:93489567-93489568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149097414	chr4:93489609-93489610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143131447	chr4:93489649-93489650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569199287	chr4:93489651-93489652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530820517	chr4:93489655-93489656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79401691	chr4:93489672-93489673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527758603	chr4:93489676-93489677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570437223	chr4:93489710-93489711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539212478	chr4:93489720-93489721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552758944	chr4:93489737-93489738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566183700	chr4:93489745-93489746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188000874	chr4:93489757-93489758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62307852	chr4:93489758-93489759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575164726	chr4:93489759-93489760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544866335	chr4:93489822-93489823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372462375	chr4:93489859-93489860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578253236	chr4:93489883-93489884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563353653	chr4:93489972-93489973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375411285	chr4:93489986-93489987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560717131	chr4:93489993-93489994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148235168	chr4:93490046-93490047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs377115897	chr4:93490076-93490077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542789953	chr4:93490092-93490093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562880815	chr4:93490117-93490118	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531579643	chr4:93490128-93490129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575788132	chr4:93490163-93490164	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114888119	chr4:93490164-93490165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142450005	chr4:93490181-93490182	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62307853	chr4:93490184-93490185	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566590170	chr4:93490188-93490189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs117983098	chr4:93490196-93490197	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146496612	chr4:93490201-93490202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113238713	chr4:93490234-93490235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568953851	chr4:93490235-93490236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113547988	chr4:93490260-93490261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139065567	chr4:93490300-93490301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570273387	chr4:93490330-93490331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142982494	chr4:93490345-93490346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534541638	chr4:93490351-93490352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Chronic lymphocytic leukemia	18922857	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93478000-93493600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:93488200-93490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:93488800-93497400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:93489400-93489600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:93489800-93490200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:93490000-93490600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:93490200-93490400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr4:93490400-93493800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:93490600-93490800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr4:93490600-93494000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:93493600-93494200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr4:93493800-93494800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr4:93494000-93494600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:93494800-93497200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:93495400-93497400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:93495400-93497400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:93495600-93511400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:93495600-93535600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:93496200-93496400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr4:93496400-93540200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:93497000-93498000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:93497200-93497800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:93497400-93497600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:93497400-93497800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:93497600-93498000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:93497800-93511200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:93497800-93524200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:93498000-93521800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:93500600-93500800	Enhancers	Brain Angular Gyrus	brain
30	chr4:93500600-93500800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr4:93501000-93502600	Weak transcription	Brain Angular Gyrus	brain
32	chr4:93501200-93502600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:93501600-93501800	Enhancers	Brain Anterior Caudate	brain
34	chr4:93501800-93504200	Weak transcription	Brain Anterior Caudate	brain
35	chr4:93502400-93502600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:93502600-93502800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:93502600-93502800	Enhancers	Brain Angular Gyrus	brain
38	chr4:93502600-93503200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr4:93502800-93531400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:93503000-93504800	Enhancers	Brain Substantia Nigra	brain
41	chr4:93503200-93503600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:93503600-93505400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr4:93504200-93504600	Enhancers	Brain Anterior Caudate	brain
44	chr4:93504400-93504600	Enhancers	Brain Angular Gyrus	brain
45	chr4:93507000-93510800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:93509600-93521600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:93510000-93510400	Enhancers	Pancreas	Pancrea
48	chr4:93510400-93512200	Weak transcription	Pancreas	Pancrea
49	chr4:93510400-93523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:93510800-93519000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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