Variant report

Variant	esv3434390
Chromosome Location	chr6:167799512-167801360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr6:167799353-167799569	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:167800632-167800815	GM12878	blood:	n/a	n/a
3	CBX3	chr6:167800537-167800803	K562	blood:	n/a	n/a
4	EBF1	chr6:167800374-167800567	GM12878	blood:	n/a	n/a
5	EBF1	chr6:167800633-167800823	GM12878	blood:	n/a	n/a
6	EBF1	chr6:167799317-167799670	GM12878	blood:	n/a	n/a
7	EP300	chr6:167799436-167799593	GM12878	blood:	n/a	n/a
8	EP300	chr6:167799221-167799724	GM12878	blood:	n/a	n/a
9	EP300	chr6:167800291-167802181	GM12878	blood:	n/a	n/a
10	FOSL2	chr6:167799990-167802190	HepG2	liver:	n/a	n/a
11	FOSL2	chr6:167799343-167799781	HepG2	liver:	n/a	n/a
12	FOSL2	chr6:167799201-167799903	HepG2	liver:	n/a	n/a
13	GATA2	chr6:167800336-167801088	K562	blood:	n/a	n/a
14	GATA2	chr6:167801141-167801746	K562	blood:	n/a	n/a
15	GATA2	chr6:167799305-167799604	K562	blood:	n/a	n/a
16	IRF4	chr6:167799155-167799811	GM12878	blood:	n/a	n/a
17	IRF4	chr6:167800248-167802238	GM12878	blood:	n/a	n/a
18	IRF4	chr6:167800250-167801181	GM12878	blood:	n/a	n/a
19	IRF4	chr6:167799180-167799764	GM12878	blood:	n/a	n/a
20	JUND	chr6:167800001-167800165	HepG2	liver:	n/a	n/a
21	JUND	chr6:167800308-167802241	HepG2	liver:	n/a	n/a
22	JUND	chr6:167799232-167799833	HepG2	liver:	n/a	n/a
23	JUND	chr6:167799388-167799609	HepG2	liver:	n/a	n/a
24	JUND	chr6:167800594-167800754	HepG2	liver:	n/a	n/a
25	PAX5	chr6:167799951-167802295	GM12878	blood:	n/a	n/a
26	PAX5	chr6:167800291-167802345	GM12878	blood:	n/a	n/a
27	PAX5	chr6:167799206-167799795	GM12878	blood:	n/a	n/a
28	PAX5	chr6:167799252-167799665	GM12878	blood:	n/a	n/a
29	PAX5	chr6:167800036-167800225	GM12878	blood:	n/a	n/a
30	PAX5	chr6:167801337-167801759	GM12878	blood:	n/a	n/a
31	PAX5	chr6:167799251-167799671	GM12878	blood:	n/a	n/a
32	PAX5	chr6:167800294-167800874	GM12878	blood:	n/a	n/a
33	PBX3	chr6:167800594-167800714	GM12878	blood:	n/a	n/a
34	POU2F2	chr6:167799173-167799870	GM12878	blood:	n/a	n/a
35	POU2F2	chr6:167799990-167802490	GM12878	blood:	n/a	n/a
36	RXRA	chr6:167800593-167800841	HepG2	liver:	n/a	n/a
37	RXRA	chr6:167799277-167799573	HepG2	liver:	n/a	n/a
38	RXRA	chr6:167800293-167800588	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr6:167799286-167799680	HepG2	liver:	n/a	n/a
40	SIN3AK20	chr6:167799718-167799886	HepG2	liver:	n/a	n/a
41	SIN3AK20	chr6:167800843-167801053	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr6:167801135-167801345	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr6:167800318-167800605	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr6:167800615-167800798	HepG2	liver:	n/a	n/a
45	SIX5	chr6:167800022-167800235	K562	blood:	n/a	n/a
46	SIX5	chr6:167799257-167799929	K562	blood:	n/a	n/a
47	SIX5	chr6:167800026-167800237	K562	blood:	n/a	n/a
48	SIX5	chr6:167800294-167801806	K562	blood:	n/a	n/a
49	SIX5	chr6:167799253-167799595	K562	blood:	n/a	n/a
50	SIX5	chr6:167800324-167801791	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
TCP10	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372781802	chr6:167799519-167799520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs202152754	chr6:167799527-167799528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557905194	chr6:167799534-167799535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375797469	chr6:167799535-167799536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs62647860	chr6:167799536-167799537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201073344	chr6:167799537-167799538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs553365695	chr6:167799543-167799544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs201567053	chr6:167799549-167799550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs572221968	chr6:167799556-167799557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138916878	chr6:167799558-167799559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369373955	chr6:167799566-167799567	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs141288619	chr6:167799577-167799578	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372822300	chr6:167799596-167799597	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536594164	chr6:167799598-167799599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201402529	chr6:167799629-167799630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200102641	chr6:167799653-167799654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376536597	chr6:167799654-167799655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111218730	chr6:167799665-167799666	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371979579	chr6:167799676-167799677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201176525	chr6:167799691-167799692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186343264	chr6:167799703-167799704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554794699	chr6:167799708-167799709	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376246783	chr6:167799727-167799728	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs200351188	chr6:167799747-167799748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs375167791	chr6:167799749-167799750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576263923	chr6:167799795-167799796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs369524509	chr6:167799796-167799797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373016130	chr6:167799808-167799809	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376513563	chr6:167799820-167799821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369879494	chr6:167799838-167799839	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs373585483	chr6:167799850-167799851	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375650543	chr6:167799855-167799856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs564944409	chr6:167799867-167799868	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201287933	chr6:167799879-167799880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs199788681	chr6:167799898-167799899	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539782835	chr6:167799962-167799963	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs576888210	chr6:167799963-167799964	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs202124171	chr6:167799965-167799966	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111218684	chr6:167799977-167799978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs150350725	chr6:167799998-167799999	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372560944	chr6:167800006-167800007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200670426	chr6:167800016-167800017	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs370743998	chr6:167800023-167800024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201878736	chr6:167800033-167800034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373986943	chr6:167800037-167800038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs571907122	chr6:167800053-167800054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs62647861	chr6:167800067-167800068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs200406387	chr6:167800082-167800083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368657961	chr6:167800086-167800087	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs559329098	chr6:167800110-167800111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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