Variant report

Variant	esv3398658
Chromosome Location	chr6:167798262-167803160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:167801477-167801674	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:167799353-167799569	GM12878	blood:	n/a	n/a
3	BCL11A	chr6:167801917-167802109	GM12878	blood:	n/a	n/a
4	BCL11A	chr6:167800632-167800815	GM12878	blood:	n/a	n/a
5	BCL11A	chr6:167801472-167801775	GM12878	blood:	n/a	n/a
6	BCL11A	chr6:167801474-167801790	GM12878	blood:	n/a	n/a
7	CBX3	chr6:167800537-167800803	K562	blood:	n/a	n/a
8	CTCF	chr6:167802765-167802797	Lung_OC	lung:	n/a	n/a
9	EBF1	chr6:167799317-167799670	GM12878	blood:	n/a	n/a
10	EBF1	chr6:167800374-167800567	GM12878	blood:	n/a	n/a
11	EBF1	chr6:167801477-167801660	GM12878	blood:	n/a	n/a
12	EBF1	chr6:167800633-167800823	GM12878	blood:	n/a	n/a
13	EP300	chr6:167801483-167801753	GM12878	blood:	n/a	n/a
14	EP300	chr6:167801907-167802072	GM12878	blood:	n/a	n/a
15	EP300	chr6:167799221-167799724	GM12878	blood:	n/a	n/a
16	EP300	chr6:167799436-167799593	GM12878	blood:	n/a	n/a
17	EP300	chr6:167800291-167802181	GM12878	blood:	n/a	n/a
18	FOSL2	chr6:167799343-167799781	HepG2	liver:	n/a	n/a
19	FOSL2	chr6:167799990-167802190	HepG2	liver:	n/a	n/a
20	FOSL2	chr6:167801435-167801780	HepG2	liver:	n/a	n/a
21	FOSL2	chr6:167799201-167799903	HepG2	liver:	n/a	n/a
22	GATA2	chr6:167801829-167802081	K562	blood:	n/a	n/a
23	GATA2	chr6:167799305-167799604	K562	blood:	n/a	n/a
24	GATA2	chr6:167801141-167801746	K562	blood:	n/a	n/a
25	GATA2	chr6:167800336-167801088	K562	blood:	n/a	n/a
26	IRF4	chr6:167799155-167799811	GM12878	blood:	n/a	n/a
27	IRF4	chr6:167800248-167802238	GM12878	blood:	n/a	n/a
28	IRF4	chr6:167801363-167802115	GM12878	blood:	n/a	n/a
29	IRF4	chr6:167800250-167801181	GM12878	blood:	n/a	n/a
30	IRF4	chr6:167799180-167799764	GM12878	blood:	n/a	n/a
31	JUND	chr6:167799232-167799833	HepG2	liver:	n/a	n/a
32	JUND	chr6:167800594-167800754	HepG2	liver:	n/a	n/a
33	JUND	chr6:167800001-167800165	HepG2	liver:	n/a	n/a
34	JUND	chr6:167801970-167802128	HepG2	liver:	n/a	n/a
35	JUND	chr6:167799388-167799609	HepG2	liver:	n/a	n/a
36	JUND	chr6:167800308-167802241	HepG2	liver:	n/a	n/a
37	PAX5	chr6:167799206-167799795	GM12878	blood:	n/a	n/a
38	PAX5	chr6:167800036-167800225	GM12878	blood:	n/a	n/a
39	PAX5	chr6:167799951-167802295	GM12878	blood:	n/a	n/a
40	PAX5	chr6:167799252-167799665	GM12878	blood:	n/a	n/a
41	PAX5	chr6:167800291-167802345	GM12878	blood:	n/a	n/a
42	PAX5	chr6:167801337-167801759	GM12878	blood:	n/a	n/a
43	PAX5	chr6:167799251-167799671	GM12878	blood:	n/a	n/a
44	PAX5	chr6:167800294-167800874	GM12878	blood:	n/a	n/a
45	PBX3	chr6:167800594-167800714	GM12878	blood:	n/a	n/a
46	POLR2A	chr6:167803107-167803184	Gliobla	brain:	n/a	n/a
47	POLR2A	chr6:167802967-167803055	GM12878	blood:	n/a	n/a
48	POU2F2	chr6:167799990-167802490	GM12878	blood:	n/a	n/a
49	POU2F2	chr6:167799173-167799870	GM12878	blood:	n/a	n/a
50	RXRA	chr6:167799277-167799573	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167798410-167798460	HAEpiC	amniotic membrane:	n/a
2	chr6:167798410-167798460	AoSMC	blood vessel:	n/a
3	chr6:167798410-167798460	ovcar-3	ovarian:	n/a
4	chr6:167798410-167798460	IMR90	lung:	fetal
5	chr6:167798410-167798460	HEK293	kidney:	embryo
6	chr6:167798410-167798460	GM19239	blood:	n/a
7	chr6:167798410-167798460	HL-60	blood:	n/a
8	chr6:167798410-167798460	HIPEpiC	eye:	n/a
9	chr6:167798410-167798460	GM12878	blood:	n/a
10	chr6:167798410-167798460	HRE	kidney:	n/a
11	chr6:167798410-167798460	NH-A	brain:	n/a
12	chr6:167798410-167798460	GM06990	blood:	n/a
13	chr6:167798410-167798460	HRCEpiC	kidney:	n/a
14	chr6:167798410-167798460	T-47D	breast:	n/a
15	chr6:167798410-167798460	GM12892	blood:	n/a
16	chr6:167798410-167798460	PFSK-1	brain:	n/a
17	chr6:167798410-167798460	Jurkat	blood:	n/a
18	chr6:167798410-167798460	SK-N-SH_RA	brain:	n/a
19	chr6:167798410-167798460	HUVEC	blood vessel:	n/a
20	chr6:167798410-167798460	GM12891	blood:	n/a
21	chr6:167798410-167798460	K562	blood:	n/a
22	chr6:167798410-167798460	ECC-1	luminal epithelium:	n/a
23	chr6:167798410-167798460	AG04450	lung:	fetal
24	chr6:167798410-167798460	NT2-D1	testis:	n/a
25	chr6:167798410-167798460	H1-hESC	embryonic stem cell:	embryo
26	chr6:167798410-167798460	HCF	heart:	n/a
27	chr6:167798410-167798460	HMEC	breast:	n/a
28	chr6:167798410-167798460	AG09309	skin:	n/a
29	chr6:167798410-167798460	HRPEpiC	eye:	n/a
30	chr6:167798410-167798460	MCF10A-Er-Src	breast:	n/a
31	chr6:167798410-167798460	Hela-S3	cervix:	n/a
32	chr6:167798410-167798460	HepG2	liver:	n/a
33	chr6:167798410-167798460	RPTEC	kidney:	n/a
34	chr6:167798410-167798460	SAEC	small airway:	n/a
35	chr6:167798410-167798460	BJ	skin:	n/a
36	chr6:167798410-167798460	HPAEpiC	pulmonary alveolar:	n/a
37	chr6:167798410-167798460	Caco-2	colon:	n/a
38	chr6:167798410-167798460	BE2_C	brain:	n/a
39	chr6:167798410-167798460	HCM	heart:	n/a
40	chr6:167798410-167798460	HCT-116	colon:	n/a
41	chr6:167798410-167798460	SK-N-SH	brain:	n/a
42	chr6:167798410-167798460	AG04449	skin:	fetal
43	chr6:167798410-167798460	NHDF-neo	bronchial:	n/a
44	chr6:167798410-167798460	SK-N-MC	brain:	n/a
45	chr6:167798410-167798460	CMK	blood:	n/a
46	chr6:167798410-167798460	A549	lung:	n/a
47	chr6:167798410-167798460	PrEC	prostate:	n/a
48	chr6:167798410-167798460	HNPCEpiC	eye:	n/a
49	chr6:167798410-167798460	AG09319	gingival:	n/a
50	chr6:167798410-167798460	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
TCP10	TF binding region
TCP10	CpG island

Extended variants
information (count: 299 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:299 , 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	rs116835190	chr6:167798410-167798411	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs183757827	chr6:167798416-167798417	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs201043341	chr6:167798420-167798421	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs553738544	chr6:167798468-167798469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368663159	chr6:167798694-167798695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs572318392	chr6:167798706-167798707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs535026507	chr6:167798709-167798710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs112810276	chr6:167798716-167798717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs2989533	chr6:167798724-167798725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs28504172	chr6:167798726-167798727	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs199527103	chr6:167798734-167798735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs575390576	chr6:167798737-167798738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143478123	chr6:167798745-167798746	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs142007483	chr6:167799121-167799122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs368180587	chr6:167799131-167799132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547392081	chr6:167799132-167799133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201012264	chr6:167799133-167799134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566209066	chr6:167799146-167799147	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs142053059	chr6:167799161-167799162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374081027	chr6:167799197-167799198	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548473682	chr6:167799216-167799217	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs528572288	chr6:167799247-167799248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181994829	chr6:167799266-167799267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs370689273	chr6:167799273-167799274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs201895122	chr6:167799281-167799282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200098248	chr6:167799299-167799300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62647357	chr6:167799307-167799308	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs368512627	chr6:167799328-167799329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs535463450	chr6:167799336-167799337	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372749560	chr6:167799341-167799342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537141358	chr6:167799352-167799353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs552214630	chr6:167799365-167799366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs570617382	chr6:167799383-167799384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375768494	chr6:167799398-167799399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs62647358	chr6:167799401-167799402	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs184097163	chr6:167799427-167799428	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62647359	chr6:167799431-167799432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534673159	chr6:167799435-167799436	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369193937	chr6:167799482-167799483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs188979651	chr6:167799500-167799501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs372685678	chr6:167799505-167799506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs372781802	chr6:167799519-167799520	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202152754	chr6:167799527-167799528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs557905194	chr6:167799534-167799535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375797469	chr6:167799535-167799536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs62647860	chr6:167799536-167799537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201073344	chr6:167799537-167799538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs553365695	chr6:167799543-167799544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201567053	chr6:167799549-167799550	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572221968	chr6:167799556-167799557	Inactive region	TF binding region	1 gene(s)	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
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
Non-syndromic sensorineural hearing loss	21293372	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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