Variant report

Variant	nsv966219
Chromosome Location	chr4:129125374-129127535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129117953..129120073-chr4:129123550..129125408,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575685259	chr4:129125377-129125378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200561594	chr4:129125418-129125419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77980066	chr4:129125420-129125421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568874196	chr4:129125452-129125453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12502412	chr4:129125483-129125484	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565079335	chr4:129125504-129125505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554747903	chr4:129125536-129125537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192137071	chr4:129125575-129125576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184629728	chr4:129125610-129125611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572295560	chr4:129125627-129125628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558736860	chr4:129125638-129125639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190561254	chr4:129125655-129125656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146497544	chr4:129125759-129125760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562394658	chr4:129125764-129125765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555752712	chr4:129125822-129125823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201720748	chr4:129125832-129125833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6818207	chr4:129125864-129125865	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113791145	chr4:129125959-129125960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542600868	chr4:129125962-129125963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181967053	chr4:129125968-129125969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28472721	chr4:129126015-129126016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75489612	chr4:129126020-129126021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75241399	chr4:129126022-129126023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386401450	chr4:129126023-129126024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371525921	chr4:129126031-129126032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61601350	chr4:129126092-129126093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185770757	chr4:129126262-129126263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72683936	chr4:129126302-129126303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139606273	chr4:129126325-129126326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115893493	chr4:129126343-129126344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532552315	chr4:129126422-129126423	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551343144	chr4:129126435-129126436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547511654	chr4:129126463-129126464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77341110	chr4:129126560-129126561	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188981434	chr4:129126569-129126570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531826121	chr4:129126698-129126699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180869277	chr4:129126726-129126727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111260060	chr4:129126761-129126762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533900847	chr4:129126769-129126770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185463537	chr4:129126823-129126824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576969057	chr4:129126841-129126842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537638522	chr4:129126843-129126844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11312750	chr4:129126846-129126847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556078594	chr4:129126878-129126879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149745391	chr4:129126883-129126884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190218933	chr4:129126914-129126915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542639657	chr4:129126915-129126916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35405002	chr4:129126939-129126940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181488759	chr4:129127023-129127024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566074555	chr4:129127031-129127032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	20459617	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
Developmental delay	21147756	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
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129094600-129131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:129100200-129129400	Weak transcription	HepG2	liver
4	chr4:129103600-129129800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:129103800-129131600	Weak transcription	NHLF	lung
6	chr4:129106600-129131000	Weak transcription	Colonic Mucosa	Colon
7	chr4:129108200-129149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:129108400-129136000	Weak transcription	Lung	lung
9	chr4:129108600-129129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:129108600-129132800	Weak transcription	Fetal Brain Female	brain
11	chr4:129108600-129133600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:129110400-129134200	Weak transcription	Small Intestine	intestine
13	chr4:129112600-129133600	Weak transcription	Fetal Kidney	kidney
14	chr4:129112800-129127800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:129112800-129128000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:129113000-129129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:129113000-129131200	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:129113000-129141400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:129113200-129132600	Weak transcription	GM12878-XiMat	blood
20	chr4:129113200-129141400	Weak transcription	A549	lung
21	chr4:129113400-129128000	Weak transcription	Fetal Heart	heart
22	chr4:129113400-129129600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:129115800-129133200	Weak transcription	Fetal Intestine Small	intestine
24	chr4:129119200-129126600	Weak transcription	Brain Germinal Matrix	brain
25	chr4:129119200-129129800	Weak transcription	Primary B cells from cord blood	blood
26	chr4:129119200-129134800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:129119200-129134800	Weak transcription	Spleen	Spleen
28	chr4:129119600-129135000	Strong transcription	Liver	Liver
29	chr4:129120000-129141800	Weak transcription	HMEC	breast
30	chr4:129120200-129133200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:129120400-129129200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:129120600-129126400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:129120600-129126600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr4:129120800-129130000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:129121600-129127800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:129121600-129128200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:129122400-129127800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:129122400-129133000	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:129122400-129134000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:129122400-129134600	Weak transcription	Right Atrium	heart
41	chr4:129122600-129132200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:129122600-129133400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:129122600-129134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:129122600-129135800	Weak transcription	Right Ventricle	heart
45	chr4:129122800-129127800	Weak transcription	Aorta	Aorta
46	chr4:129122800-129131000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:129122800-129132400	Weak transcription	Primary T cells from cord blood	blood
48	chr4:129122800-129132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:129122800-129135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:129122800-129135200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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