Variant report

Variant	esv3474267
Chromosome Location	chr6:133582056-133591170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:133587539-133587628	Lung_OC	lung:	n/a	n/a
2	POLR2A	chr6:133590315-133590367	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:133585777-133585867	A549	lung:	n/a	n/a
4	POLR2A	chr6:133590187-133590274	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:133585662-133585846	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr6:133585184-133585462	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr6:133585803-133585907	Gliobla	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:133584189-133584239	ovcar-3	ovarian:	n/a
2	chr6:133584189-133584239	HL-60	blood:	n/a
3	chr6:133584189-133584239	ECC-1	luminal epithelium:	n/a
4	chr6:133584189-133584239	MCF-7	breast:	n/a
5	chr6:133584189-133584239	HEEpiC	esophagus:	n/a
6	chr6:133584189-133584239	NB4	blood:	n/a
7	chr6:133584189-133584239	BJ	skin:	n/a
8	chr6:133584189-133584239	IMR90	lung:	fetal
9	chr6:133584189-133584239	GM12892	blood:	n/a
10	chr6:133584189-133584239	Hela-S3	cervix:	n/a
11	chr6:133584189-133584239	PrEC	prostate:	n/a
12	chr6:133584189-133584239	MCF10A-Er-Src	breast:	n/a
13	chr6:133584189-133584239	AG04450	lung:	fetal
14	chr6:133584189-133584239	HCT-116	colon:	n/a
15	chr6:133584189-133584239	HRCEpiC	kidney:	n/a
16	chr6:133584189-133584239	HAEpiC	amniotic membrane:	n/a
17	chr6:133584189-133584239	GM19239	blood:	n/a
18	chr6:133584189-133584239	ProgFib	skin:	n/a
19	chr6:133584189-133584239	HepG2	liver:	n/a
20	chr6:133584189-133584239	SKMC	muscle:	n/a
21	chr6:133584189-133584239	CMK	blood:	n/a
22	chr6:133584189-133584239	HNPCEpiC	eye:	n/a
23	chr6:133584189-133584239	SK-N-SH_RA	brain:	n/a
24	chr6:133584189-133584239	T-47D	breast:	n/a
25	chr6:133584189-133584239	HIPEpiC	eye:	n/a
26	chr6:133584189-133584239	NT2-D1	testis:	n/a
27	chr6:133584189-133584239	HCPEpiC	choroid plexus:	n/a
28	chr6:133584189-133584239	NH-A	brain:	n/a
29	chr6:133584189-133584239	NHDF-neo	bronchial:	n/a
30	chr6:133584189-133584239	AoSMC	blood vessel:	n/a
31	chr6:133584189-133584239	GM06990	blood:	n/a
32	chr6:133584189-133584239	SK-N-MC	brain:	n/a
33	chr6:133584189-133584239	U87	brain:	n/a
34	chr6:133584189-133584239	Caco-2	colon:	n/a
35	chr6:133584189-133584239	HRPEpiC	eye:	n/a
36	chr6:133584189-133584239	BE2_C	brain:	n/a
37	chr6:133584189-133584239	SAEC	small airway:	n/a
38	chr6:133584189-133584239	HUVEC	blood vessel:	n/a
39	chr6:133584189-133584239	K562	blood:	n/a
40	chr6:133584189-133584239	HRE	kidney:	n/a
41	chr6:133584189-133584239	AG10803	skin:	n/a
42	chr6:133584189-133584239	HPAEpiC	pulmonary alveolar:	n/a
43	chr6:133584189-133584239	HCF	heart:	n/a
44	chr6:133584189-133584239	GM12891	blood:	n/a
45	chr6:133584189-133584239	Jurkat	blood:	n/a
46	chr6:133584189-133584239	PFSK-1	brain:	n/a
47	chr6:133584189-133584239	Hepatocyte	liver:	n/a
48	chr6:133584189-133584239	LNCaP	prostate:	n/a
49	chr6:133584189-133584239	PANC-1	pancreas:	n/a
50	chr6:133584189-133584239	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133585301..133587177-chr6:133589198..133590844,2	K562	blood:
2	chr6:133585301..133587177-chr6:133589198..133590844,2	K562	blood:

No data

Variant related genes	Relation type
EYA4	TF binding region
EYA4	CpG island

Extended variants
information (count: 346 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2180729	chr6:133582082-133582083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193183820	chr6:133582102-133582103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184688778	chr6:133582114-133582115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149393679	chr6:133582177-133582178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544512510	chr6:133582212-133582213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144848800	chr6:133582247-133582248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555527394	chr6:133582264-133582265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7751520	chr6:133582265-133582266	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542684768	chr6:133582343-133582344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143038590	chr6:133582409-133582410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530229948	chr6:133582421-133582422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528078099	chr6:133582444-133582445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56165097	chr6:133582456-133582457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564873357	chr6:133582471-133582472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145949924	chr6:133582487-133582488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550912909	chr6:133582492-133582493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567442906	chr6:133582511-133582512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536087808	chr6:133582547-133582548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139808049	chr6:133582618-133582619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181348389	chr6:133582652-133582653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375060294	chr6:133582664-133582665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185137409	chr6:133582671-133582672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7756406	chr6:133582678-133582679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188331357	chr6:133582693-133582694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141228996	chr6:133582832-133582833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560368715	chr6:133582879-133582880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532567684	chr6:133582882-133582883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111257403	chr6:133582883-133582884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541627572	chr6:133582953-133582954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17062246	chr6:133582970-133582971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150732439	chr6:133582992-133582993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556256896	chr6:133583011-133583012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60075185	chr6:133583040-133583041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545094354	chr6:133583063-133583064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577684171	chr6:133583105-133583106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564843106	chr6:133583121-133583122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530545621	chr6:133583182-133583183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs211442	chr6:133583214-133583215	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs553533853	chr6:133583222-133583223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187670501	chr6:133583229-133583230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561203593	chr6:133583278-133583279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569467138	chr6:133583297-133583298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs79252574	chr6:133583324-133583325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs3777794	chr6:133583355-133583356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs532460869	chr6:133583391-133583392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74708887	chr6:133583407-133583408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17240849	chr6:133583423-133583424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191487441	chr6:133583500-133583501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149921502	chr6:133583516-133583517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183794945	chr6:133583588-133583589	Weak transcription Enhancers	n/a	n/a	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
Autism	21448237	CNVD
Autism	22495311	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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133567400-133583600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:133575200-133585200	Weak transcription	Psoas Muscle	Psoas
3	chr6:133576600-133585200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:133579200-133585200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:133581000-133582200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr6:133581000-133599000	Weak transcription	A549	lung
7	chr6:133581400-133593800	Weak transcription	Hela-S3	cervix
8	chr6:133582200-133582400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr6:133582200-133585800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:133582400-133582800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:133582800-133585400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr6:133583600-133584200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:133583800-133584000	Weak transcription	Pancreas	Pancrea
14	chr6:133584000-133584200	Enhancers	Pancreas	Pancrea
15	chr6:133584000-133584200	Enhancers	Right Atrium	heart
16	chr6:133584000-133584400	Enhancers	Fetal Muscle Trunk	muscle
17	chr6:133584000-133585400	Enhancers	Fetal Muscle Leg	muscle
18	chr6:133584200-133584800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:133584200-133590000	Weak transcription	Pancreas	Pancrea
20	chr6:133584400-133585200	Weak transcription	Right Atrium	heart
21	chr6:133584400-133594000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:133584800-133586000	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:133585200-133586000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:133585200-133586000	Enhancers	Left Ventricle	heart
25	chr6:133585200-133586200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:133585200-133586200	Enhancers	Psoas Muscle	Psoas
27	chr6:133585400-133587400	Weak transcription	Right Atrium	heart
28	chr6:133585400-133593400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:133585400-133593800	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:133585800-133589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:133586000-133589600	Weak transcription	Left Ventricle	heart
32	chr6:133586000-133590000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:133586000-133593400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:133586200-133589600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:133586200-133589600	Weak transcription	Psoas Muscle	Psoas
36	chr6:133587400-133587600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:133587400-133587600	Enhancers	Right Atrium	heart
38	chr6:133587400-133587600	Enhancers	Right Ventricle	heart
39	chr6:133587600-133589600	Weak transcription	Right Atrium	heart
40	chr6:133587600-133594000	Weak transcription	Right Ventricle	heart
41	chr6:133589000-133593800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:133589400-133590400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:133589600-133589800	Enhancers	Left Ventricle	heart
44	chr6:133589600-133590000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:133589600-133590000	Enhancers	Psoas Muscle	Psoas
46	chr6:133589600-133590000	Enhancers	Right Atrium	heart
47	chr6:133589800-133590200	Weak transcription	Left Ventricle	heart
48	chr6:133590000-133590200	Enhancers	Pancreas	Pancrea
49	chr6:133590000-133591000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:133590000-133591400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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