Variant report

Variant	nsv595417
Chromosome Location	chr4:131175071-131253173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:131242207..131244895-chr4:131247047..131249107,2	K562	blood:
2	chr4:131242207..131244895-chr4:131247047..131249107,2	K562	blood:
3	chr4:131153992..131157908-chr4:131192612..131195351,3	K562	blood:

Extended variants
information (count: 1009 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1009 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6833836	chr4:131175071-131175072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545868993	chr4:131175091-131175092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140846891	chr4:131175134-131175135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531719063	chr4:131175225-131175226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77550667	chr4:131175268-131175269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6834422	chr4:131175275-131175276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs568297002	chr4:131175298-131175299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529182994	chr4:131175394-131175395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572731131	chr4:131175464-131175465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114022790	chr4:131175469-131175470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539680701	chr4:131175517-131175518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76357488	chr4:131175569-131175570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535765027	chr4:131175600-131175601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142316484	chr4:131175611-131175612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561192221	chr4:131175649-131175650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530233524	chr4:131175734-131175735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150882040	chr4:131175737-131175738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111436897	chr4:131175774-131175775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373358414	chr4:131175794-131175795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555080321	chr4:131175799-131175800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181523562	chr4:131175864-131175865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60915255	chr4:131175866-131175867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186362468	chr4:131175875-131175876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563412574	chr4:131175884-131175885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72938589	chr4:131175939-131175940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531984164	chr4:131175974-131175975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34568441	chr4:131175979-131175980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114946270	chr4:131176008-131176009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139337362	chr4:131176076-131176077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189439424	chr4:131176107-131176108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181834712	chr4:131176138-131176139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75437517	chr4:131176141-131176142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545424108	chr4:131176155-131176156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185238389	chr4:131176198-131176199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547691483	chr4:131176260-131176261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559726431	chr4:131176311-131176312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75135394	chr4:131176326-131176327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372541354	chr4:131176330-131176331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533160325	chr4:131176340-131176341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377083515	chr4:131176347-131176348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189712490	chr4:131176407-131176408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565826921	chr4:131176481-131176482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534966184	chr4:131176542-131176543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57488478	chr4:131176548-131176549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150062209	chr4:131176595-131176596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112905465	chr4:131176670-131176671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72422450	chr4:131176671-131176672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60284168	chr4:131176672-131176673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146648694	chr4:131176705-131176706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373368868	chr4:131176722-131176723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131172600-131178200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:131177800-131180600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:131178200-131179000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:131178200-131179000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:131178200-131179000	Enhancers	NHDF-Ad	bronchial
6	chr4:131178200-131179200	Enhancers	NHEK	skin
7	chr4:131178200-131179400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:131178400-131179000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:131178400-131179000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:131178400-131179000	Enhancers	HUVEC	blood vessel
11	chr4:131178400-131179000	Enhancers	NH-A	brain
12	chr4:131178400-131179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:131178800-131179400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:131178800-131180000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:131179000-131179800	Weak transcription	NHDF-Ad	bronchial
16	chr4:131179400-131179800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:131179400-131180200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:131179800-131180200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:131180000-131180200	Enhancers	NHDF-Ad	bronchial
20	chr4:131187800-131188600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr4:131191400-131191800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:131191400-131192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:131191400-131192600	Enhancers	Dnd41	blood
24	chr4:131197600-131198200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:131198200-131199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:131199000-131199600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:131199600-131200000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:131199800-131200000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:131208600-131209400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:131209400-131209800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:131209600-131210400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:131209800-131210000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:131210000-131210200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:131210000-131210600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:131210000-131210600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:131210200-131210400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:131210200-131210600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr4:131210400-131210800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:131210600-131215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:131210600-131215200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr4:131215000-131215600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:131215000-131215800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:131215200-131215800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:131219800-131220000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:131220600-131220800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:131229400-131229600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:131229400-131230600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:131230000-131232000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:131232800-131233000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr4:131233000-131236200	Weak transcription	H1 Cell Line	embryonic stem cell

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