Variant report

Variant	nsv818455
Chromosome Location	chr6:132694751-132702249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:132701614-132701856	IMR90	lung:	n/a	n/a
2	CTCF	chr6:132699166-132699207	ProgFib	skin:	n/a	n/a
3	CTCF	chr6:132699165-132699232	GM10248	blood:	n/a	n/a
4	EP300	chr6:132699930-132699950	GM12878	blood:	n/a	n/a
5	FOS	chr6:132694664-132694884	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr6:132694731-132694875	MCF10A-Er-Src	breast:	n/a	n/a
7	JUN	chr6:132696954-132697000	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFIC	chr6:132699648-132700154	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr6:132695006-132695194	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr6:132701920-132701949	MCF10A-Er-Src	breast:	n/a	n/a
11	SETDB1	chr6:132701349-132701538	U2OS	brain:	n/a	n/a
12	SPI1	chr6:132699807-132700168	GM12878	blood:	n/a	n/a
13	SPI1	chr6:132699722-132700295	GM12878	blood:	n/a	n/a
14	SPI1	chr6:132699875-132700051	K562	blood:	n/a	n/a
15	SPI1	chr6:132699701-132700257	HL-60	blood:	n/a	n/a
16	SPI1	chr6:132699799-132700128	GM12878	blood:	n/a	n/a
17	SPI1	chr6:132699770-132700215	GM12891	blood:	n/a	n/a
18	SPI1	chr6:132699719-132700163	HL-60	blood:	n/a	n/a
19	SPI1	chr6:132699724-132700203	GM12891	blood:	n/a	n/a
20	STAT3	chr6:132694674-132694848	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr6:132696933-132697411	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr6:132694524-132694829	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr6:132694635-132694848	MCF10A-Er-Src	breast:	n/a	n/a
24	TCF7L2	chr6:132695242-132695488	HepG2	liver:	n/a	n/a
25	ZNF384	chr6:132699786-132700281	GM12878	blood:	n/a	n/a
26	ZNF384	chr6:132699922-132700146	K562	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132696379-132696429	GM12878	blood:	n/a
2	chr6:132696379-132696429	GM12878	blood:	n/a
3	chr6:132697112-132697162	GM12891	blood:	n/a
4	chr6:132697112-132697162	HRCEpiC	kidney:	n/a
5	chr6:132696379-132696429	HMEC	breast:	n/a
6	chr6:132696379-132696429	T-47D	breast:	n/a
7	chr6:132696379-132696429	HCPEpiC	choroid plexus:	n/a
8	chr6:132696379-132696429	HepG2	liver:	n/a
9	chr6:132696379-132696429	PFSK-1	brain:	n/a
10	chr6:132696379-132696429	HEK293	kidney:	embryo
11	chr6:132696379-132696429	A549	lung:	n/a
12	chr6:132696379-132696429	IMR90	lung:	fetal
13	chr6:132697112-132697162	HEK293	kidney:	embryo
14	chr6:132696379-132696429	SAEC	small airway:	n/a
15	chr6:132696379-132696429	HPAEpiC	pulmonary alveolar:	n/a
16	chr6:132697112-132697162	NT2-D1	testis:	n/a
17	chr6:132696379-132696429	SK-N-SH	brain:	n/a
18	chr6:132697112-132697162	AG09309	skin:	n/a
19	chr6:132696379-132696429	Hela-S3	cervix:	n/a
20	chr6:132696379-132696429	SKMC	muscle:	n/a
21	chr6:132696379-132696429	BJ	skin:	n/a
22	chr6:132696379-132696429	Hepatocyte	liver:	n/a
23	chr6:132697112-132697162	Jurkat	blood:	n/a
24	chr6:132697112-132697162	CMK	blood:	n/a
25	chr6:132696379-132696429	ECC-1	luminal epithelium:	n/a
26	chr6:132697112-132697162	GM19239	blood:	n/a
27	chr6:132696379-132696429	HRCEpiC	kidney:	n/a
28	chr6:132697112-132697162	NB4	blood:	n/a
29	chr6:132697112-132697162	Hepatocyte	liver:	n/a
30	chr6:132697112-132697162	Hela-S3	cervix:	n/a
31	chr6:132697112-132697162	SK-N-SH	brain:	n/a
32	chr6:132697112-132697162	NHDF-neo	bronchial:	n/a
33	chr6:132696379-132696429	U87	brain:	n/a
34	chr6:132696379-132696429	Caco-2	colon:	n/a
35	chr6:132697112-132697162	AoSMC	blood vessel:	n/a
36	chr6:132697112-132697162	GM06990	blood:	n/a
37	chr6:132696379-132696429	HUVEC	blood vessel:	n/a
38	chr6:132697112-132697162	HCM	heart:	n/a
39	chr6:132696379-132696429	SK-N-MC	brain:	n/a
40	chr6:132697112-132697162	ECC-1	luminal epithelium:	n/a
41	chr6:132696379-132696429	HNPCEpiC	eye:	n/a
42	chr6:132697112-132697162	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:132696379-132696429	MCF-7	breast:	n/a
44	chr6:132696379-132696429	HAEpiC	amniotic membrane:	n/a
45	chr6:132696379-132696429	NH-A	brain:	n/a
46	chr6:132697112-132697162	AG04450	lung:	fetal
47	chr6:132696379-132696429	K562	blood:	n/a
48	chr6:132696379-132696429	Jurkat	blood:	n/a
49	chr6:132696379-132696429	GM19239	blood:	n/a
50	chr6:132696379-132696429	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
MOXD1	TF binding region
MOXD1	CpG island

Extended variants
information (count: 280 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6569792	chr6:132694751-132694752	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73546094	chr6:132694814-132694815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540879579	chr6:132694860-132694861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560780301	chr6:132694925-132694926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528082340	chr6:132694931-132694932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572778719	chr6:132694936-132694937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144478193	chr6:132694952-132694953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80226452	chr6:132694958-132694959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530555516	chr6:132694968-132694969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73546095	chr6:132695005-132695006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561352747	chr6:132695014-132695015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568973930	chr6:132695061-132695062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75189589	chr6:132695074-132695075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184445493	chr6:132695098-132695099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543780693	chr6:132695124-132695125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566699894	chr6:132695140-132695141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538999915	chr6:132695175-132695176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558714882	chr6:132695216-132695217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575607960	chr6:132695257-132695258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113279928	chr6:132695282-132695283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6937164	chr6:132695312-132695313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs117648836	chr6:132695316-132695317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114225347	chr6:132695319-132695320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540871668	chr6:132695388-132695389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376306915	chr6:132695438-132695439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560838819	chr6:132695442-132695443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577497349	chr6:132695445-132695446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544975328	chr6:132695502-132695503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189199236	chr6:132695517-132695518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9493297	chr6:132695565-132695566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550215029	chr6:132695569-132695570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560689751	chr6:132695571-132695572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529835124	chr6:132695580-132695581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565492082	chr6:132695590-132695591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11154677	chr6:132695616-132695617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201765942	chr6:132695617-132695618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11345825	chr6:132695618-132695619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397799359	chr6:132695623-132695624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199966459	chr6:132695624-132695625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201910462	chr6:132695625-132695626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201648146	chr6:132695626-132695627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554623762	chr6:132695627-132695628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111851501	chr6:132695633-132695634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397806920	chr6:132695634-132695635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201819887	chr6:132695646-132695647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566742029	chr6:132695677-132695678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538521712	chr6:132695680-132695681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552465014	chr6:132695713-132695714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374526450	chr6:132695737-132695738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371161254	chr6:132695747-132695748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132677400-132701200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:132682200-132705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:132692000-132701200	Weak transcription	Osteobl	bone
4	chr6:132692200-132698400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:132692600-132709200	Weak transcription	Fetal Kidney	kidney
6	chr6:132692800-132694800	Strong transcription	NHDF-Ad	bronchial
7	chr6:132693200-132709400	Weak transcription	Fetal Lung	lung
8	chr6:132693400-132697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:132694200-132699600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:132694400-132705400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:132694600-132705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:132694800-132699200	Weak transcription	NHDF-Ad	bronchial
13	chr6:132698400-132699200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:132699200-132699800	Enhancers	Primary B cells from peripheral blood	blood
15	chr6:132699200-132700000	Strong transcription	NHDF-Ad	bronchial
16	chr6:132699200-132700600	Enhancers	Primary B cells from cord blood	blood
17	chr6:132699600-132700400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:132699800-132700400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:132699800-132700400	Enhancers	Primary hematopoietic stem cells	blood
20	chr6:132700000-132702400	Weak transcription	NHDF-Ad	bronchial
21	chr6:132700400-132700600	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:132700600-132701200	Weak transcription	Primary B cells from cord blood	blood
23	chr6:132701000-132701600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:132701200-132701600	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr6:132701200-132701600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:132701200-132702000	Enhancers	Osteobl	bone
27	chr6:132701600-132709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:132701600-132709400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:132701600-132713200	Weak transcription	Primary B cells from cord blood	blood
30	chr6:132702000-132709400	Weak transcription	Osteobl	bone

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