Variant report

Variant	nsv1019558
Chromosome Location	chr6:143121577-143154554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143139378..143142104-chr6:143146552..143148594,2	K562	blood:
2	chr6:143125446..143128291-chr6:143134651..143136662,2	K562	blood:
3	chr6:143118967..143121950-chr6:143122825..143125475,2	K562	blood:
4	chr6:142795312..142796264-chr6:143143811..143144602,2	MCF-7	breast:
5	chr6:143143462..143146087-chr6:143265614..143267606,3	MCF-7	breast:
6	chr6:143118967..143121950-chr6:143122825..143125475,2	K562	blood:
7	chr6:143125446..143128291-chr6:143134651..143136662,2	K562	blood:
8	chr6:143143766..143144689-chr6:143207796..143208632,2	MCF-7	breast:
9	chr6:143146689..143151970-chr6:143152746..143156314,7	MCF-7	breast:
10	chr6:143148679..143151858-chr6:143163434..143166597,3	K562	blood:
11	chr6:143146689..143151970-chr6:143152746..143156314,7	MCF-7	breast:
12	chr6:143139378..143142104-chr6:143146552..143148594,2	K562	blood:
13	chr6:143152862..143155335-chr6:143156490..143158153,2	MCF-7	breast:
14	chr6:143125289..143128187-chr6:143130624..143132976,2	MCF-7	breast:
15	chr6:143153290..143155432-chr6:143159116..143161535,2	MCF-7	breast:
16	chr6:143122037..143125771-chr6:143264772..143267581,3	MCF-7	breast:
17	chr6:143146184..143148746-chr6:143152245..143154494,2	MCF-7	breast:
18	chr6:143125289..143128187-chr6:143130624..143132976,2	MCF-7	breast:
19	chr6:143144618..143147741-chr6:143149316..143151802,4	MCF-7	breast:
20	chr6:143116694..143119328-chr6:143121007..143124845,4	MCF-7	breast:
21	chr6:143149690..143151365-chr6:143153512..143155954,2	MCF-7	breast:
22	chr6:143016859..143019440-chr6:143145754..143147934,2	K562	blood:
23	chr6:143119457..143121127-chr6:143123528..143126116,2	K562	blood:
24	chr6:143144618..143147741-chr6:143149316..143151802,4	MCF-7	breast:
25	chr6:143149690..143151365-chr6:143153512..143155954,2	MCF-7	breast:
26	chr6:143145676..143148606-chr6:143158405..143160866,2	K562	blood:
27	chr6:143116941..143118890-chr6:143133328..143134995,2	MCF-7	breast:
28	chr6:143142977..143144886-chr6:143184382..143186029,2	MCF-7	breast:
29	chr6:143146184..143148746-chr6:143152245..143154494,2	MCF-7	breast:
30	chr6:143149262..143152050-chr6:143165097..143166681,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000010818	chromatin interactions

Extended variants
information (count: 1233 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1233 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs525928	chr6:143121577-143121578	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144905446	chr6:143121623-143121624	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35574479	chr6:143121655-143121656	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183992547	chr6:143121670-143121671	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537156445	chr6:143121732-143121733	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188773135	chr6:143121750-143121751	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs487754	chr6:143121819-143121820	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs180713834	chr6:143121834-143121835	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540144192	chr6:143121851-143121852	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146744235	chr6:143121860-143121861	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75603838	chr6:143121863-143121864	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540189499	chr6:143121867-143121868	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561506851	chr6:143121868-143121869	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573729260	chr6:143121877-143121878	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73780169	chr6:143121892-143121893	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562355435	chr6:143121946-143121947	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189561950	chr6:143121974-143121975	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148824841	chr6:143121986-143121987	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560362842	chr6:143121995-143121996	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs80170979	chr6:143122021-143122022	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9496466	chr6:143122066-143122067	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1016113	chr6:143122165-143122166	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568358898	chr6:143122176-143122177	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529428349	chr6:143122179-143122180	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs551051890	chr6:143122185-143122186	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111953128	chr6:143122262-143122263	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552339046	chr6:143122282-143122283	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs12662762	chr6:143122324-143122325	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs76433052	chr6:143122328-143122329	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10717703	chr6:143122329-143122330	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77795768	chr6:143122332-143122333	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79832853	chr6:143122346-143122347	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77173773	chr6:143122347-143122348	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71024835	chr6:143122348-143122349	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567184184	chr6:143122350-143122351	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141963904	chr6:143122367-143122368	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534223522	chr6:143122391-143122392	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555383627	chr6:143122405-143122406	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs201300897	chr6:143122419-143122420	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573519295	chr6:143122439-143122440	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543906031	chr6:143122459-143122460	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555813422	chr6:143122464-143122465	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373969531	chr6:143122478-143122479	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs544839408	chr6:143122525-143122526	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527964960	chr6:143122551-143122552	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551382884	chr6:143122570-143122571	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560066989	chr6:143122634-143122635	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182084669	chr6:143122638-143122639	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs516300	chr6:143122671-143122672	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187640923	chr6:143122675-143122676	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143095800-143122200	Weak transcription	NHEK	skin
2	chr6:143096000-143122000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:143096200-143140800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:143103600-143124800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:143103800-143125400	Weak transcription	Fetal Thymus	thymus
6	chr6:143105800-143140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:143106000-143128200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:143106000-143140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:143108800-143123600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:143112200-143139400	Weak transcription	HepG2	liver
11	chr6:143113200-143140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:143114200-143140800	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:143116000-143125400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:143116000-143139600	Weak transcription	Small Intestine	intestine
15	chr6:143116200-143132200	Weak transcription	Fetal Brain Female	brain
16	chr6:143117000-143129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:143117000-143140800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:143117600-143122800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:143118000-143123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:143118000-143126200	Weak transcription	Right Ventricle	heart
21	chr6:143118000-143132200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:143118000-143137600	Weak transcription	Right Atrium	heart
23	chr6:143118200-143122000	Weak transcription	Fetal Lung	lung
24	chr6:143118200-143123200	Weak transcription	Fetal Heart	heart
25	chr6:143118200-143123200	Weak transcription	HSMMtube	muscle
26	chr6:143118600-143123000	Weak transcription	HMEC	breast
27	chr6:143118800-143122200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:143119600-143122600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:143119600-143123200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:143119600-143129600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:143119800-143121600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:143119800-143122800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:143119800-143123200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:143119800-143126200	Weak transcription	Left Ventricle	heart
35	chr6:143119800-143126200	Weak transcription	Thymus	Thymus
36	chr6:143119800-143130000	Weak transcription	Brain Substantia Nigra	brain
37	chr6:143120200-143122600	Weak transcription	Primary B cells from cord blood	blood
38	chr6:143120200-143124200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:143120400-143121600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:143120400-143122000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:143120400-143124400	Enhancers	Osteobl	bone
42	chr6:143120400-143125400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:143120600-143123200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr6:143120800-143121600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr6:143120800-143121600	Enhancers	Brain Anterior Caudate	brain
46	chr6:143120800-143121600	Enhancers	NHLF	lung
47	chr6:143120800-143123600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:143120800-143124000	Enhancers	NHDF-Ad	bronchial
49	chr6:143121000-143122200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:143121000-143122600	Weak transcription	Primary T cells from cord blood	blood

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