Variant report

Variant	nsv508420
Chromosome Location	chr6:86701551-86751873
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	CEBPB	chr6:86745797-86746103	MCF-7	breast:	n/a	chr6:86746090-86746101 chr6:86746090-86746101 chr6:86746090-86746103 chr6:86746090-86746103
2	CTCF	chr6:86738700-86738850	GM06990	blood:	n/a	n/a
3	CTCF	chr6:86740403-86740452	GM10266	blood:	n/a	n/a
4	CTCF	chr6:86727120-86727270	GM12871	blood:	n/a	n/a
5	CTCF	chr6:86727080-86727230	GM12872	blood:	n/a	n/a
6	CTCF	chr6:86727040-86727190	GM12873	blood:	n/a	n/a
7	CTCF	chr6:86728582-86728662	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr6:86727000-86727150	GM12873	blood:	n/a	n/a
9	CTCF	chr6:86727100-86727250	GM06990	blood:	n/a	n/a
10	CTCF	chr6:86726980-86727130	GM06990	blood:	n/a	n/a
11	CTCF	chr6:86727118-86727193	GM19238	blood:	n/a	n/a
12	CTCF	chr6:86727076-86727226	GM19239	blood:	n/a	n/a
13	CTCF	chr6:86727000-86727150	GM12872	blood:	n/a	n/a
14	CTCF	chr6:86727060-86727210	GM12872	blood:	n/a	n/a
15	FOS	chr6:86706801-86707141	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr6:86746736-86746790	MCF10A-Er-Src	breast:	n/a	chr6:86746752-86746762 chr6:86746753-86746760 chr6:86746752-86746761 chr6:86746753-86746762
17	FOS	chr6:86706795-86707134	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr6:86706882-86707111	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr6:86746648-86746905	MCF10A-Er-Src	breast:	n/a	chr6:86746752-86746762 chr6:86746753-86746760 chr6:86746752-86746761 chr6:86746753-86746762
20	FOS	chr6:86706794-86707196	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr6:86746736-86746787	MCF10A-Er-Src	breast:	n/a	chr6:86746752-86746762 chr6:86746753-86746760 chr6:86746752-86746761 chr6:86746753-86746762
22	FOS	chr6:86746593-86746918	MCF10A-Er-Src	breast:	n/a	chr6:86746752-86746762 chr6:86746753-86746760 chr6:86746752-86746761 chr6:86746753-86746762
23	FOXA1	chr6:86736531-86736939	HepG2	liver:	n/a	n/a
24	FOXA2	chr6:86736450-86736878	A549	lung:	n/a	n/a
25	FOXA2	chr6:86714045-86714610	A549	lung:	n/a	n/a
26	FOXA2	chr6:86713970-86714705	A549	lung:	n/a	n/a
27	FOXA2	chr6:86736660-86736879	A549	lung:	n/a	n/a
28	GATA3	chr6:86748546-86749429	SH-SY5Y	brain:	n/a	chr6:86749140-86749156 chr6:86749144-86749151 chr6:86749143-86749153 chr6:86749144-86749151 chr6:86749144-86749151 chr6:86749137-86749158 chr6:86749142-86749155
29	GATA3	chr6:86720936-86721135	SH-SY5Y	brain:	n/a	n/a
30	JUND	chr6:86746631-86746891	HepG2	liver:	n/a	chr6:86746752-86746762 chr6:86746753-86746760 chr6:86746752-86746761 chr6:86746753-86746762 chr6:86746751-86746762
31	MAFK	chr6:86737380-86737415	HepG2	liver:	n/a	n/a
32	MAFK	chr6:86734484-86734658	HepG2	liver:	n/a	n/a
33	MAFK	chr6:86721788-86721798	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr6:86727061-86727123	HepG2	liver:	n/a	n/a
35	MAX	chr6:86739098-86739115	HepG2	liver:	n/a	n/a
36	MAX	chr6:86746731-86746833	NB4	blood:	n/a	n/a
37	MYC	chr6:86746757-86746812	NB4	blood:	n/a	n/a
38	MYC	chr6:86719652-86719666	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr6:86706941-86707178	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr6:86706884-86707197	MCF10A-Er-Src	breast:	n/a	n/a
41	NR2F2	chr6:86720796-86721334	MCF-7	breast:	n/a	n/a
42	NR2F2	chr6:86725713-86726199	MCF-7	breast:	n/a	n/a
43	POLR2A	chr6:86720982-86721175	K562	blood:	n/a	n/a
44	POLR2A	chr6:86736833-86736882	MCF-7	breast:	n/a	n/a
45	POLR2A	chr6:86750835-86751059	K562	blood:	n/a	n/a
46	SETDB1	chr6:86736841-86737253	U2OS	brain:	n/a	n/a
47	SIN3AK20	chr6:86736500-86736603	HepG2	liver:	n/a	n/a
48	SPI1	chr6:86706996-86707193	GM12891	blood:	n/a	n/a
49	SPI1	chr6:86706975-86707226	GM12878	blood:	n/a	n/a
50	STAT3	chr6:86719276-86719476	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:86722649..86724742-chr6:86768609..86770800,2	MCF-7	breast:
2	chr6:86741107..86743196-chr6:86766246..86768757,2	MCF-7	breast:

Variant related genes	Relation type
RNU4-12P	TF binding region

Extended variants
information (count: 1109 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1109 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539069839	chr6:86702208-86702209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59028146	chr6:86702239-86702240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150420275	chr6:86702240-86702241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35405493	chr6:86702258-86702259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397966749	chr6:86702260-86702261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193133526	chr6:86702261-86702262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372102742	chr6:86702264-86702265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375127861	chr6:86702267-86702268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369484488	chr6:86702269-86702270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372428691	chr6:86702270-86702271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571094198	chr6:86702271-86702272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572624214	chr6:86702287-86702288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35419329	chr6:86702291-86702292	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs72913463	chr6:86702295-86702296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185741821	chr6:86702328-86702329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34852683	chr6:86702330-86702331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs563044915	chr6:86702331-86702332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533636966	chr6:86702364-86702365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568914374	chr6:86702385-86702386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551816785	chr6:86702458-86702459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547559700	chr6:86702460-86702461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560484129	chr6:86702462-86702463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6915507	chr6:86702482-86702483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549537466	chr6:86702527-86702528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567756888	chr6:86702546-86702547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6936048	chr6:86702608-86702609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs201839044	chr6:86702622-86702623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188164303	chr6:86702625-86702626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10526869	chr6:86702685-86702686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67476311	chr6:86702686-86702687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71006494	chr6:86702707-86702708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569071218	chr6:86702742-86702743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539690226	chr6:86702760-86702761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554522582	chr6:86702865-86702866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566165493	chr6:86702892-86702893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180881615	chr6:86702894-86702895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184006413	chr6:86702899-86702900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117955689	chr6:86702916-86702917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544490359	chr6:86702931-86702932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188834603	chr6:86702959-86702960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578204999	chr6:86702965-86702966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545746581	chr6:86702966-86702967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181853260	chr6:86703026-86703027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527731470	chr6:86703030-86703031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542994607	chr6:86703077-86703078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561232955	chr6:86703101-86703102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531796431	chr6:86703131-86703132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553705909	chr6:86703135-86703136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550522784	chr6:86703165-86703166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148640538	chr6:86703171-86703172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86702200-86702400	Enhancers	Ovary	ovary
2	chr6:86702400-86712800	Weak transcription	Ovary	ovary
3	chr6:86704400-86705200	Weak transcription	Psoas Muscle	Psoas
4	chr6:86704600-86705600	Enhancers	Liver	Liver
5	chr6:86705600-86705800	Flanking Active TSS	Liver	Liver
6	chr6:86705800-86706600	Enhancers	Liver	Liver
7	chr6:86706600-86707600	Enhancers	Dnd41	blood
8	chr6:86720000-86720600	Enhancers	Liver	Liver
9	chr6:86720800-86721600	Enhancers	Fetal Lung	lung
10	chr6:86721000-86721400	Enhancers	Ovary	ovary
11	chr6:86721400-86726200	Weak transcription	Ovary	ovary
12	chr6:86726000-86726200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:86726000-86726400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:86726000-86726400	Enhancers	Gastric	stomach
15	chr6:86726200-86727200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:86726200-86727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:86726200-86727400	Enhancers	Ovary	ovary
18	chr6:86726200-86727600	Enhancers	GM12878-XiMat	blood
19	chr6:86727200-86727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:86727800-86728200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:86728200-86728800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:86736600-86736800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:86736800-86737000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:86736800-86737000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:86736800-86737000	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:86736800-86737200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr6:86736800-86737200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr6:86736800-86737200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:86736800-86737200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:86736800-86737200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:86736800-86737200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:86736800-86737200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr6:86737000-86737200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr6:86737000-86737200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr6:86738000-86739600	Enhancers	Fetal Lung	lung
36	chr6:86739600-86741600	Weak transcription	Fetal Lung	lung
37	chr6:86740200-86742200	Enhancers	Liver	Liver
38	chr6:86740600-86741000	Enhancers	HepG2	liver
39	chr6:86740800-86742000	Enhancers	Stomach Smooth Muscle	stomach
40	chr6:86741600-86742000	Enhancers	Fetal Lung	lung
41	chr6:86741600-86742200	Enhancers	Ovary	ovary
42	chr6:86741800-86742200	Enhancers	Colon Smooth Muscle	Colon

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