Variant report

Variant	nsv595693
Chromosome Location	chr4:151879709-151882844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:151877350..151879470-chr4:151882177..151883692,2	K562	blood:
2	chr4:151881996..151883643-chr4:151936470..151938067,2	MCF-7	breast:
3	chr4:151881135..151883794-chr4:151886997..151888968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198589	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1212120	chr4:151879709-151879710	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554610601	chr4:151879718-151879719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200409022	chr4:151879723-151879724	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144030020	chr4:151879734-151879735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570867376	chr4:151879738-151879739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539403054	chr4:151879740-151879741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201725198	chr4:151879742-151879743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187960601	chr4:151879779-151879780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573018511	chr4:151879812-151879813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113529764	chr4:151879857-151879858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190402534	chr4:151879915-151879916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563332349	chr4:151879924-151879925	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556372586	chr4:151880129-151880130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79191663	chr4:151880143-151880144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182234369	chr4:151880145-151880146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543894167	chr4:151880159-151880160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563801086	chr4:151880164-151880165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532948216	chr4:151880207-151880208	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539821756	chr4:151880250-151880251	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560013339	chr4:151880259-151880260	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541824443	chr4:151880267-151880268	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528757572	chr4:151880277-151880278	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548845932	chr4:151880315-151880316	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371961708	chr4:151880339-151880340	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568658629	chr4:151880355-151880356	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1201206	chr4:151880377-151880378	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146280334	chr4:151880382-151880383	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369904778	chr4:151880587-151880588	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375381954	chr4:151880662-151880663	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9992474	chr4:151880765-151880766	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540105729	chr4:151880800-151880801	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1201205	chr4:151880801-151880802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs542953854	chr4:151880909-151880910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112743344	chr4:151880931-151880932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535382467	chr4:151880947-151880948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555183927	chr4:151881142-151881143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139480902	chr4:151881178-151881179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369626584	chr4:151881203-151881204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55752281	chr4:151881250-151881251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183448627	chr4:151881301-151881302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544336649	chr4:151881368-151881369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540248726	chr4:151881401-151881402	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373184598	chr4:151881428-151881429	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188501408	chr4:151881447-151881448	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573518399	chr4:151881455-151881456	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542546268	chr4:151881494-151881495	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562442849	chr4:151881520-151881521	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73859297	chr4:151881528-151881529	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531150621	chr4:151881535-151881536	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551160276	chr4:151881550-151881551	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151796400-151886600	Weak transcription	Pancreas	Pancrea
2	chr4:151859800-151882200	Weak transcription	Aorta	Aorta
3	chr4:151865200-151882000	Weak transcription	Ovary	ovary
4	chr4:151865200-151883400	Weak transcription	Gastric	stomach
5	chr4:151872000-151888400	Weak transcription	Fetal Lung	lung
6	chr4:151872400-151882400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:151874600-151882200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:151876200-151880800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:151876800-151902000	Weak transcription	Esophagus	oesophagus
10	chr4:151877200-151880000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr4:151877200-151880200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:151877800-151880600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr4:151878000-151880400	ZNF genes & repeats	Primary B cells from cord blood	blood
14	chr4:151878000-151880600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:151878200-151880200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:151878200-151880600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr4:151878200-151882800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:151878800-151880400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr4:151878800-151880400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr4:151878800-151880400	ZNF genes & repeats	Thymus	Thymus
21	chr4:151878800-151880600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr4:151879000-151880000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:151879000-151880000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:151879000-151880200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:151879000-151880200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
26	chr4:151879000-151880600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:151879200-151880400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr4:151879200-151880400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:151879200-151880600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr4:151879400-151883400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:151879600-151882000	Weak transcription	Left Ventricle	heart
32	chr4:151879600-151882200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:151879600-151882800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:151879600-151883000	Weak transcription	NHEK	skin
35	chr4:151879600-151884800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:151879600-151884800	Weak transcription	Fetal Stomach	stomach
37	chr4:151879600-151885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:151879600-151892400	Weak transcription	Primary T cells from cord blood	blood
39	chr4:151879600-151893800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:151879600-151895200	Weak transcription	Stomach Mucosa	stomach
41	chr4:151880000-151880400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
42	chr4:151880000-151880600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
43	chr4:151880000-151882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:151880000-151883400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:151880200-151880400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr4:151880200-151880400	Enhancers	Right Ventricle	heart
47	chr4:151880200-151880800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr4:151880200-151880800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:151880200-151880800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:151880400-151883400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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