Variant report

Variant	nsv886308
Chromosome Location	chr6:80734870-80765111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:80739154-80739511	GM12878	blood:	n/a	n/a
2	BCLAF1	chr6:80739065-80739571	GM12878	blood:	n/a	n/a
3	CEBPB	chr6:80748846-80749099	K562	blood:	n/a	chr6:80749021-80749032 chr6:80749019-80749032
4	CTCF	chr6:80762160-80762276	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr6:80754440-80754590	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr6:80756600-80756750	HPF	lung:	n/a	n/a
7	CTCF	chr6:80758416-80758445	GM13976	blood:	n/a	n/a
8	CTCF	chr6:80756756-80756842	ProgFib	skin:	n/a	n/a
9	CUX1	chr6:80745040-80745074	K562	blood:	n/a	n/a
10	E2F4	chr6:80741785-80741959	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr6:80754785-80754787	MCF10A-Er-Src	breast:	n/a	n/a
12	FOXA2	chr6:80763454-80764075	A549	lung:	n/a	n/a
13	GATA3	chr6:80743625-80743847	SH-SY5Y	brain:	n/a	n/a
14	JUN	chr6:80750626-80750681	K562	blood:	n/a	n/a
15	MAFF	chr6:80738328-80738705	HepG2	liver:	n/a	chr6:80738494-80738512
16	MAFF	chr6:80738324-80738691	K562	blood:	n/a	chr6:80738494-80738512
17	MAFK	chr6:80738326-80738688	HepG2	liver:	n/a	chr6:80738496-80738511
18	MAFK	chr6:80738263-80738742	GM12878	blood:	n/a	chr6:80738496-80738511
19	MAFK	chr6:80738327-80738684	H1-hESC	embryonic stem cell:	n/a	chr6:80738496-80738511
20	MAFK	chr6:80738321-80738695	HepG2	liver:	n/a	chr6:80738496-80738511
21	MAFK	chr6:80738327-80738682	Hela-S3	cervix:	n/a	chr6:80738496-80738511
22	MAFK	chr6:80738320-80738700	IMR90	lung:	n/a	chr6:80738496-80738511
23	MAFK	chr6:80738327-80738686	K562	blood:	n/a	chr6:80738496-80738511
24	MTA3	chr6:80739054-80739539	GM12878	blood:	n/a	n/a
25	MYC	chr6:80756853-80756950	GM12878	blood:	n/a	n/a
26	POLR2A	chr6:80740672-80740796	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:80752778-80755751	K562	blood:	n/a	n/a
28	POLR2A	chr6:80756867-80756941	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:80748916-80748947	K562	blood:	n/a	n/a
30	POLR2A	chr6:80757042-80757125	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:80746224-80746314	ProgFib	skin:	n/a	n/a
32	POLR2A	chr6:80742649-80742706	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr6:80735112-80735189	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:80756960-80757137	MCF-7	breast:	n/a	n/a
35	POLR2A	chr6:80756838-80756857	MCF-7	breast:	n/a	n/a
36	POLR2A	chr6:80764036-80764091	MCF-7	breast:	n/a	n/a
37	POLR2A	chr6:80742787-80743018	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr6:80757209-80757280	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr6:80743016-80743045	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:80742635-80743379	K562	blood:	n/a	n/a
41	POLR2A	chr6:80743077-80743255	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:80747617-80748072	K562	blood:	n/a	n/a
43	POLR2A	chr6:80744973-80745332	MCF10A-Er-Src	breast:	n/a	n/a
44	RCOR1	chr6:80746991-80747116	GM12878	blood:	n/a	n/a
45	RUNX3	chr6:80739168-80739708	GM12878	blood:	n/a	n/a
46	RUNX3	chr6:80739158-80739657	GM12878	blood:	n/a	n/a
47	SPI1	chr6:80739165-80739546	GM12891	blood:	n/a	n/a
48	SPI1	chr6:80759683-80759828	K562	blood:	n/a	n/a
49	SPI1	chr6:80742775-80743115	GM12891	blood:	n/a	n/a
50	SPI1	chr6:80759660-80759848	GM12891	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80729038..80731808-chr6:80734179..80735842,2	K562	blood:
2	chr6:80717310..80719454-chr6:80764068..80766246,2	K562	blood:
3	chr6:80717535..80719093-chr6:80734932..80736458,2	K562	blood:
4	chr6:80712691..80715749-chr6:80750056..80753128,3	K562	blood:
5	chr6:80731473..80734540-chr6:80736888..80739701,3	K562	blood:
6	chr6:80725547..80727630-chr6:80735210..80737325,2	K562	blood:
7	chr6:80742236..80743849-chr6:80785962..80787542,2	K562	blood:
8	chr6:80733040..80735460-chr6:80736846..80739439,3	K562	blood:
9	chr6:80722394..80725312-chr6:80736793..80739743,2	MCF-7	breast:
10	chr6:80713136..80715748-chr6:80737826..80739442,2	K562	blood:
11	chr6:80715006..80717903-chr6:80744998..80747221,3	K562	blood:
12	chr6:80730895..80732973-chr6:80736170..80739701,4	K562	blood:
13	chr6:80745121..80747021-chr6:80747136..80749141,2	MCF-7	breast:
14	chr6:80719003..80721359-chr6:80737643..80739358,2	K562	blood:
15	chr6:80733040..80735460-chr6:80736846..80739439,3	K562	blood:
16	chr6:80744876..80746467-chr6:80815463..80817793,2	K562	blood:
17	chr6:80743018..80745261-chr6:80747268..80749028,2	MCF-7	breast:
18	chr6:80717752..80719460-chr6:80749306..80750878,2	K562	blood:

No data

Variant related genes	Relation type
TTK	TF binding region
ENSG00000112742	chromatin interactions
ENSG00000083123	chromatin interactions

Extended variants
information (count: 1294 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1294 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs239580	chr6:80734870-80734871	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144503599	chr6:80734879-80734880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552318292	chr6:80734933-80734934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80335897	chr6:80734943-80734944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144022800	chr6:80734961-80734962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192145874	chr6:80734977-80734978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147321538	chr6:80734979-80734980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550793734	chr6:80735093-80735094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567461931	chr6:80735110-80735111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9352789	chr6:80735165-80735166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113557127	chr6:80735235-80735236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142992451	chr6:80735291-80735292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183302101	chr6:80735322-80735323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558065531	chr6:80735329-80735330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577738705	chr6:80735352-80735353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543646669	chr6:80735536-80735537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368885595	chr6:80735576-80735577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs58191302	chr6:80735577-80735578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188077486	chr6:80735587-80735588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397773091	chr6:80735592-80735593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62405971	chr6:80735595-80735596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141445257	chr6:80735614-80735615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373153139	chr6:80735615-80735616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192125052	chr6:80735653-80735654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573737563	chr6:80735676-80735677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200136313	chr6:80735709-80735710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78210489	chr6:80735711-80735712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556582979	chr6:80735712-80735713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183070391	chr6:80735722-80735723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559362804	chr6:80735762-80735763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531315541	chr6:80735775-80735776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545356417	chr6:80735778-80735779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373832651	chr6:80735793-80735794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565618733	chr6:80735805-80735806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150811766	chr6:80735853-80735854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3799495	chr6:80735994-80735995	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs188084564	chr6:80735997-80735998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369500750	chr6:80736083-80736084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139578466	chr6:80736106-80736107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112148341	chr6:80736121-80736122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74677005	chr6:80736135-80736136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2230510	chr6:80736148-80736149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373723443	chr6:80736154-80736155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567403155	chr6:80736162-80736163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144749454	chr6:80736185-80736186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376931234	chr6:80736202-80736203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370218926	chr6:80736209-80736210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112880049	chr6:80736227-80736228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374930453	chr6:80736245-80736246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536793848	chr6:80736325-80736326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80714800-80738800	Weak transcription	Small Intestine	intestine
2	chr6:80715000-80748000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:80715000-80752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:80715000-80752400	Weak transcription	Placenta	Placenta
5	chr6:80715200-80739200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:80715200-80749600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:80715200-80752000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:80715200-80752200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:80715400-80742200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:80715400-80743200	Weak transcription	Brain Germinal Matrix	brain
11	chr6:80715400-80745400	Weak transcription	Fetal Lung	lung
12	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:80715600-80739200	Weak transcription	Fetal Stomach	stomach
15	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:80715800-80753600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:80715800-80753800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:80716000-80739200	Weak transcription	NHEK	skin
21	chr6:80716000-80743600	Weak transcription	Fetal Heart	heart
22	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:80716800-80753600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:80717400-80739200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
26	chr6:80721800-80736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:80721800-80742000	Weak transcription	A549	lung
28	chr6:80722200-80755400	Strong transcription	Dnd41	blood
29	chr6:80722400-80741400	Weak transcription	NHDF-Ad	bronchial
30	chr6:80723600-80752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr6:80724000-80749600	Weak transcription	NHLF	lung
32	chr6:80724800-80741600	Weak transcription	Hela-S3	cervix
33	chr6:80727000-80738800	Weak transcription	GM12878-XiMat	blood
34	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
35	chr6:80727400-80738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:80730200-80749000	Strong transcription	Fetal Thymus	thymus
37	chr6:80730200-80752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:80730400-80748200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:80730400-80753600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr6:80730400-80753600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:80730600-80739200	Weak transcription	Fetal Intestine Large	intestine
42	chr6:80730600-80753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:80730800-80735800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:80731200-80740200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:80731400-80738000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:80732000-80738000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:80732000-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:80732000-80749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:80732800-80738800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:80732800-80739200	Weak transcription	H9 Cell Line	embryonic stem cell

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