Variant report

Variant	nsv5384
Chromosome Location	chr6:86684041-86727924
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	BHLHE40	chr6:86700819-86701140	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:86685736-86685780	GM12878	blood:	n/a	n/a
3	CHD2	chr6:86685802-86685933	GM12878	blood:	n/a	n/a
4	CTCF	chr6:86726980-86727130	GM06990	blood:	n/a	n/a
5	CTCF	chr6:86727100-86727250	GM06990	blood:	n/a	n/a
6	CTCF	chr6:86727118-86727193	GM19238	blood:	n/a	n/a
7	CTCF	chr6:86727060-86727210	GM12872	blood:	n/a	n/a
8	CTCF	chr6:86727120-86727270	GM12871	blood:	n/a	n/a
9	CTCF	chr6:86727000-86727150	GM12872	blood:	n/a	n/a
10	CTCF	chr6:86698742-86698743	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:86727000-86727150	GM12873	blood:	n/a	n/a
12	CTCF	chr6:86698672-86698751	MCF-7	breast:	n/a	chr6:86698714-86698721
13	CTCF	chr6:86727040-86727190	GM12873	blood:	n/a	n/a
14	CTCF	chr6:86686060-86686210	GM12872	blood:	n/a	n/a
15	CTCF	chr6:86727076-86727226	GM19239	blood:	n/a	n/a
16	CTCF	chr6:86727080-86727230	GM12872	blood:	n/a	n/a
17	CTCF	chr6:86698696-86698738	MCF-7	breast:	n/a	chr6:86698714-86698721
18	CTCF	chr6:86685940-86686090	GM06990	blood:	n/a	n/a
19	CTCF	chr6:86692418-86692483	Kidney_OC	kidney:	n/a	n/a
20	CUX1	chr6:86685666-86685728	GM12878	blood:	n/a	n/a
21	EP300	chr6:86685829-86685980	GM12878	blood:	n/a	chr6:86685903-86685917 chr6:86685873-86685887
22	EP300	chr6:86685735-86685775	GM12878	blood:	n/a	n/a
23	FOS	chr6:86706882-86707111	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr6:86706795-86707134	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:86706794-86707196	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr6:86706801-86707141	MCF10A-Er-Src	breast:	n/a	n/a
27	FOXA1	chr6:86687430-86687671	T-47D	breast:	n/a	n/a
28	FOXA1	chr6:86686042-86686295	T-47D	breast:	n/a	chr6:86686207-86686219
29	FOXA1	chr6:86687439-86687730	T-47D	breast:	n/a	n/a
30	FOXA2	chr6:86713970-86714705	A549	lung:	n/a	n/a
31	FOXA2	chr6:86714045-86714610	A549	lung:	n/a	n/a
32	GATA2	chr6:86686029-86686296	SH-SY5Y	brain:	n/a	chr6:86686165-86686176
33	GATA3	chr6:86685981-86686356	T-47D	breast:	n/a	chr6:86686165-86686176
34	GATA3	chr6:86685952-86686339	T-47D	breast:	n/a	chr6:86686165-86686176
35	GATA3	chr6:86687429-86687659	T-47D	breast:	n/a	n/a
36	GATA3	chr6:86720936-86721135	SH-SY5Y	brain:	n/a	n/a
37	KAP1	chr6:86696895-86697269	K562	blood:	n/a	n/a
38	KAP1	chr6:86696509-86696816	HEK293	kidney:	n/a	n/a
39	MAFF	chr6:86700593-86700815	HepG2	liver:	n/a	chr6:86700671-86700689
40	MAFF	chr6:86685926-86685936	HepG2	liver:	n/a	n/a
41	MAFK	chr6:86727061-86727123	HepG2	liver:	n/a	n/a
42	MAFK	chr6:86694305-86694363	HepG2	liver:	n/a	n/a
43	MAFK	chr6:86700667-86700750	H1-hESC	embryonic stem cell:	n/a	chr6:86700677-86700688 chr6:86700675-86700689 chr6:86700672-86700688 chr6:86700677-86700688
44	MAFK	chr6:86685813-86686018	HepG2	liver:	n/a	n/a
45	MAFK	chr6:86700549-86700838	HepG2	liver:	n/a	chr6:86700677-86700688 chr6:86700675-86700689 chr6:86700672-86700688 chr6:86700677-86700688
46	MAFK	chr6:86721788-86721798	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAFK	chr6:86685783-86685813	HepG2	liver:	n/a	n/a
48	MAZ	chr6:86685809-86685849	GM12878	blood:	n/a	n/a
49	MYC	chr6:86719652-86719666	MCF10A-Er-Src	breast:	n/a	n/a
50	MYC	chr6:86706884-86707197	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:2172562..2173427-chr6:86699284..86699804,2	K562	blood:
2	chr6:86679171..86681936-chr6:86686395..86689125,2	K562	blood:
3	chr6:86722649..86724742-chr6:86768609..86770800,2	MCF-7	breast:

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

Extended variants
information (count: 1195 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1195 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187019739	chr6:86685208-86685209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568011518	chr6:86685287-86685288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528997033	chr6:86685288-86685289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550625223	chr6:86685299-86685300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192819193	chr6:86685303-86685304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572258389	chr6:86685318-86685319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141509448	chr6:86685324-86685325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566869817	chr6:86685341-86685342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75817455	chr6:86685356-86685357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146404040	chr6:86685364-86685365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117394320	chr6:86685461-86685462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10944170	chr6:86685469-86685470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs369823111	chr6:86685489-86685490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115835605	chr6:86685495-86685496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185457749	chr6:86685559-86685560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546064891	chr6:86685581-86685582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188770760	chr6:86685631-86685632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564224951	chr6:86685639-86685640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573181429	chr6:86685693-86685694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540489708	chr6:86685740-86685741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73493288	chr6:86685767-86685768	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs528913869	chr6:86685800-86685801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550291997	chr6:86685801-86685802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562645192	chr6:86685832-86685833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148584149	chr6:86685835-86685836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374540224	chr6:86685846-86685847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111948734	chr6:86685900-86685901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566684919	chr6:86685919-86685920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78399231	chr6:86685925-86685926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534243251	chr6:86685932-86685933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554151043	chr6:86685933-86685934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75090748	chr6:86685969-86685970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35500719	chr6:86685980-86685981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563862075	chr6:86686036-86686037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376616602	chr6:86686051-86686052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12190598	chr6:86686074-86686075	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs556278489	chr6:86686080-86686081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193283662	chr6:86686090-86686091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150654284	chr6:86686158-86686159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139782661	chr6:86686202-86686203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375745207	chr6:86686227-86686228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184296147	chr6:86686258-86686259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540033074	chr6:86686264-86686265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543253184	chr6:86686315-86686316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562052271	chr6:86686316-86686317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144683805	chr6:86686319-86686320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77096708	chr6:86686339-86686340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147882001	chr6:86686369-86686370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532873398	chr6:86686379-86686380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528804936	chr6:86686386-86686387	Weak 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
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

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86685200-86686200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:86686200-86687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:86687200-86687800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:86691000-86691400	ZNF genes & repeats	Ovary	ovary
5	chr6:86691400-86693000	Weak transcription	Ovary	ovary
6	chr6:86693000-86693200	ZNF genes & repeats	Psoas Muscle	Psoas
7	chr6:86693000-86694000	ZNF genes & repeats	Ovary	ovary
8	chr6:86693200-86697400	Weak transcription	Psoas Muscle	Psoas
9	chr6:86697600-86698000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr6:86697600-86698000	Weak transcription	Psoas Muscle	Psoas
11	chr6:86697600-86698200	ZNF genes & repeats	Gastric	stomach
12	chr6:86702200-86702400	Enhancers	Ovary	ovary
13	chr6:86702400-86712800	Weak transcription	Ovary	ovary
14	chr6:86704400-86705200	Weak transcription	Psoas Muscle	Psoas
15	chr6:86704600-86705600	Enhancers	Liver	Liver
16	chr6:86705600-86705800	Flanking Active TSS	Liver	Liver
17	chr6:86705800-86706600	Enhancers	Liver	Liver
18	chr6:86706600-86707600	Enhancers	Dnd41	blood
19	chr6:86720000-86720600	Enhancers	Liver	Liver
20	chr6:86720800-86721600	Enhancers	Fetal Lung	lung
21	chr6:86721000-86721400	Enhancers	Ovary	ovary
22	chr6:86721400-86726200	Weak transcription	Ovary	ovary
23	chr6:86726000-86726200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:86726000-86726400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:86726000-86726400	Enhancers	Gastric	stomach
26	chr6:86726200-86727200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:86726200-86727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:86726200-86727400	Enhancers	Ovary	ovary
29	chr6:86726200-86727600	Enhancers	GM12878-XiMat	blood
30	chr6:86727200-86727800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:86727800-86728200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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