Variant report

Variant	nsv967032
Chromosome Location	chr3:81661006-81667515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr3:81662571-81662721	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr3:81663929-81664069	MCF-7	breast:	n/a	n/a
3	POLR2A	chr3:81661781-81662180	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:81663241-81663276	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:81665002-81665074	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:81663794-81663823	A549	lung:	n/a	n/a
7	POLR2A	chr3:81664450-81665051	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:81660001..81661927-chr3:81662830..81664385,2	K562	blood:
2	chr3:81660001..81661927-chr3:81662830..81664385,2	K562	blood:
3	chr17:56735051..56736577-chr3:81662286..81664124,2	MCF-7	breast:

Variant related genes	Relation type
SETP6	TF binding region
ENSG00000240404	TF binding region

Extended variants
information (count: 249 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76081659	chr3:81661007-81661008	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568013995	chr3:81661052-81661053	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536957470	chr3:81661088-81661089	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13090543	chr3:81661094-81661095	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141782930	chr3:81661192-81661193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570413177	chr3:81661219-81661220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181064041	chr3:81661243-81661244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571652273	chr3:81661250-81661251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539287042	chr3:81661292-81661293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6548771	chr3:81661306-81661307	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533635839	chr3:81661321-81661322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185154281	chr3:81661325-81661326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11404629	chr3:81661372-81661373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113274496	chr3:81661391-81661392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147094634	chr3:81661412-81661413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574732895	chr3:81661419-81661420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570187094	chr3:81661436-81661437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138451045	chr3:81661450-81661451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564016985	chr3:81661456-81661457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532841467	chr3:81661467-81661468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144107974	chr3:81661484-81661485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75879296	chr3:81661487-81661488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146870952	chr3:81661500-81661501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548228640	chr3:81661513-81661514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7617859	chr3:81661526-81661527	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530471539	chr3:81661549-81661550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550151997	chr3:81661556-81661557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570445717	chr3:81661559-81661560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539325633	chr3:81661609-81661610	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546499489	chr3:81661615-81661616	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565384506	chr3:81661632-81661633	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs566625696	chr3:81661663-81661664	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs534814897	chr3:81661688-81661689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138414105	chr3:81661704-81661705	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574981226	chr3:81661727-81661728	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537480635	chr3:81661784-81661785	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs369068985	chr3:81661786-81661787	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs538339989	chr3:81661829-81661830	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs534298479	chr3:81661835-81661836	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546488825	chr3:81661847-81661848	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144511616	chr3:81661852-81661853	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs189664426	chr3:81661873-81661874	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs62265450	chr3:81661898-81661899	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs573340405	chr3:81661907-81661908	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369691751	chr3:81661913-81661914	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs542055132	chr3:81661941-81661942	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs148423288	chr3:81661952-81661953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142427516	chr3:81661971-81661972	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550188512	chr3:81661996-81661997	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs563709786	chr3:81662004-81662005	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81603600-81726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:81613600-81699200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:81614000-81693600	Weak transcription	Aorta	Aorta
4	chr3:81614400-81688800	Weak transcription	Right Ventricle	heart
5	chr3:81626200-81671000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:81626400-81671800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:81627400-81666800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:81627400-81755000	Weak transcription	Primary B cells from cord blood	blood
9	chr3:81633000-81661400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:81635000-81700800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:81642000-81665600	Weak transcription	HepG2	liver
12	chr3:81642000-81671200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:81642000-81753000	Weak transcription	HUVEC	blood vessel
14	chr3:81642200-81661400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr3:81642200-81661600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:81642200-81661600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:81642200-81677000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:81642200-81712200	Weak transcription	Ovary	ovary
19	chr3:81643200-81661400	Weak transcription	HSMM	muscle
20	chr3:81650600-81674600	Weak transcription	Left Ventricle	heart
21	chr3:81651800-81662800	Weak transcription	Lung	lung
22	chr3:81652400-81661600	Weak transcription	Liver	Liver
23	chr3:81652600-81670600	Weak transcription	Osteobl	bone
24	chr3:81655400-81661600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:81655600-81663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:81656000-81661600	Weak transcription	Psoas Muscle	Psoas
27	chr3:81657600-81665000	Weak transcription	NHDF-Ad	bronchial
28	chr3:81658000-81662000	Weak transcription	HSMMtube	muscle
29	chr3:81658400-81661800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:81658600-81665000	Weak transcription	Fetal Heart	heart
31	chr3:81659200-81667600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:81659800-81661800	Weak transcription	Adipose Nuclei	Adipose
33	chr3:81660000-81669800	Weak transcription	NHLF	lung
34	chr3:81660600-81664600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr3:81660800-81661200	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr3:81660800-81661600	Weak transcription	Dnd41	blood
37	chr3:81660800-81663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:81660800-81665600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:81660800-81668000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:81661200-81661800	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr3:81661400-81662200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:81661400-81662200	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr3:81661400-81663000	Strong transcription	HSMM	muscle
44	chr3:81661400-81673200	Weak transcription	HMEC	breast
45	chr3:81661600-81662000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr3:81661600-81662000	ZNF genes & repeats	Liver	Liver
47	chr3:81661600-81662200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr3:81661600-81662600	Strong transcription	Psoas Muscle	Psoas
49	chr3:81661600-81662800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:81661600-81662800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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