Variant report

Variant	nsv879574
Chromosome Location	chr4:92304224-92429961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
2	chr4:92313682..92316029-chr4:92318721..92321306,2	MCF-7	breast:
3	chr4:92034306..92035417-chr4:92423226..92424074,5	MCF-7	breast:
4	chr17:56708841..56709425-chr4:92369580..92370294,2	Hela-S3	cervix:
5	chr4:92341986..92344370-chr4:92347861..92350317,2	MCF-7	breast:
6	chr12:30949150..30949851-chr4:92369989..92370606,2	Hela-S3	cervix:
7	chr4:92341986..92344370-chr4:92347861..92350317,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212195	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567374046	chr4:92326804-92326805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs139005770	chr4:92326826-92326827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190848921	chr4:92326869-92326870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141535227	chr4:92326870-92326871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs533886594	chr4:92326879-92326880	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576710506	chr4:92326890-92326891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs182764232	chr4:92326892-92326893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs555918500	chr4:92326903-92326904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116170730	chr4:92326913-92326914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150883332	chr4:92326959-92326960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373436077	chr4:92326960-92326961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138252113	chr4:92326968-92326969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553915853	chr4:92326987-92326988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs376004401	chr4:92326997-92326998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs573773639	chr4:92327000-92327001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562595630	chr4:92333611-92333612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs144696948	chr4:92333655-92333656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs138710654	chr4:92333668-92333669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs551280016	chr4:92333671-92333672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571457415	chr4:92333697-92333698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs76890934	chr4:92333704-92333705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147356851	chr4:92333738-92333739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs138995548	chr4:92333786-92333787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs142639815	chr4:92348028-92348029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540181407	chr4:92348091-92348092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370909196	chr4:92348109-92348110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553986024	chr4:92348153-92348154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112570491	chr4:92348155-92348156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547354229	chr4:92348202-92348203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573764553	chr4:92348216-92348217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372727004	chr4:92348273-92348274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542410065	chr4:92348277-92348278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562670410	chr4:92348296-92348297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144054821	chr4:92348336-92348337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72880869	chr4:92348431-92348432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565155755	chr4:92348450-92348451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527635689	chr4:92348452-92348453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148236000	chr4:92348530-92348531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545630198	chr4:92348554-92348555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72656188	chr4:92348604-92348605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530366526	chr4:92348610-92348611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550379027	chr4:92348628-92348629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369913546	chr4:92348690-92348691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554570904	chr4:92369675-92369676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62309588	chr4:92369698-92369699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554259062	chr4:92369735-92369736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186385773	chr4:92369775-92369776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115480739	chr4:92369776-92369777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148311280	chr4:92369820-92369821	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545967193	chr4:92369852-92369853	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:92326800-92327000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:92333600-92333800	ZNF genes & repeats	Pancreas	Pancrea
3	chr4:92348000-92348400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:92348000-92348600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:92348200-92348600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:92348200-92348600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:92348200-92348600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:92348200-92348800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr4:92348200-92348800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:92369800-92372000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:92370000-92370600	Enhancers	NH-A	brain
12	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:92370000-92370800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:92370200-92370400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:92370200-92370600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:92370400-92371200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:92370400-92371600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:92370600-92375200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:92371200-92371400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:92371400-92375000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:92372000-92375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:92373800-92374200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:92375000-92375400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:92375000-92375400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:92375000-92375400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:92375000-92375800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:92375200-92375600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:92408000-92408800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:92408200-92408600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:92408200-92408600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:92408200-92408800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:92408400-92408600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:92408400-92408800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:92408600-92409600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:92408600-92409600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:92408800-92410000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:92408800-92410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:92409600-92410000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:92409800-92410000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:92410000-92410400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:92410200-92410400	Enhancers	HUES64 Cell Line	embryonic stem cell

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