Variant report

Variant	nsv594867
Chromosome Location	chr4:92855968-92883857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:92862741..92865102-chr4:92873846..92875562,2	MCF-7	breast:
2	chr4:92852985..92854522-chr4:92856972..92859223,2	K562	blood:
3	chr4:92862741..92865102-chr4:92873846..92875562,2	MCF-7	breast:

Extended variants
information (count: 291 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs321717	chr4:92855968-92855969	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570606128	chr4:92855971-92855972	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572990160	chr4:92856003-92856004	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs76584950	chr4:92856158-92856159	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs528059234	chr4:92856249-92856250	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs533740420	chr4:92856351-92856352	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs145979776	chr4:92856406-92856407	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs555338318	chr4:92856414-92856415	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs139873603	chr4:92856455-92856456	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs78716325	chr4:92856480-92856481	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs558095935	chr4:92856511-92856512	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs62311136	chr4:92856517-92856518	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142098115	chr4:92856531-92856532	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs113073874	chr4:92856536-92856537	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs573700488	chr4:92856620-92856621	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs188956251	chr4:92856621-92856622	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs78502389	chr4:92856622-92856623	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs531744264	chr4:92856627-92856628	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs138991778	chr4:92856663-92856664	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs28368962	chr4:92856748-92856749	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533120558	chr4:92856758-92856759	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs192034226	chr4:92856769-92856770	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs377081694	chr4:92856852-92856853	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs566820217	chr4:92856898-92856899	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs183536823	chr4:92856933-92856934	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs187540688	chr4:92857019-92857020	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs568812176	chr4:92857031-92857032	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs149967367	chr4:92857036-92857037	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs560180865	chr4:92857039-92857040	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs147641062	chr4:92857061-92857062	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs571514110	chr4:92857067-92857068	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs200255422	chr4:92857142-92857143	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs534078546	chr4:92857168-92857169	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs578069284	chr4:92857177-92857178	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs191620894	chr4:92857178-92857179	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs574030352	chr4:92857186-92857187	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs321716	chr4:92857203-92857204	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs1586340	chr4:92857255-92857256	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184143570	chr4:92857270-92857271	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs546741883	chr4:92857277-92857278	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs574280930	chr4:92857297-92857298	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs187305733	chr4:92857301-92857302	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs377624793	chr4:92857331-92857332	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs540472387	chr4:92857379-92857380	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs142198918	chr4:92857403-92857404	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs529231562	chr4:92857405-92857406	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs549231487	chr4:92857513-92857514	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs568773435	chr4:92857521-92857522	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs192648030	chr4:92857543-92857544	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs551188227	chr4:92857563-92857564	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92854400-92859000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:92855200-92856200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:92856000-92856200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr4:92856000-92857800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:92856200-92856400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr4:92856200-92856600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:92856200-92857800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:92856400-92858800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr4:92856600-92857000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:92857000-92857600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:92857400-92857800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:92878800-92879400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:92879000-92879400	Enhancers	Fetal Brain Female	brain
14	chr4:92879000-92879800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:92879000-92880200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:92879000-92880600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:92879000-92880800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:92879000-92881000	Enhancers	Brain Germinal Matrix	brain
19	chr4:92879200-92879400	Enhancers	Fetal Muscle Leg	muscle
20	chr4:92879200-92879800	Enhancers	Fetal Brain Male	brain
21	chr4:92879400-92880000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:92879400-92880000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:92879600-92880200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:92879600-92880200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:92879600-92884800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:92879800-92880200	Weak transcription	Fetal Brain Male	brain
27	chr4:92880000-92880200	Enhancers	Fetal Muscle Leg	muscle
28	chr4:92880200-92880400	Enhancers	Fetal Brain Male	brain
29	chr4:92880200-92884600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:92880400-92884200	Weak transcription	Fetal Brain Male	brain
31	chr4:92882800-92883200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:92882800-92883400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:92883000-92883200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:92883000-92883400	Enhancers	Ovary	ovary
35	chr4:92883000-92883800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:92883200-92884200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:92883600-92884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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