Variant report

Variant	esv3365560
Chromosome Location	chr6:167580962-167584360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:167583941-167583989	LNCaP	prostate:	n/a	n/a
2	CTCF	chr6:167582372-167582420	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr6:167582989-167583038	GM12892	blood:	n/a	n/a
4	CTCF	chr6:167582908-167582917	GM19239	blood:	n/a	n/a
5	MYC	chr6:167583199-167583454	H1-hESC	embryonic stem cell:	n/a	n/a
6	PAX5	chr6:167583073-167583299	GM12878	blood:	n/a	n/a
7	PBX3	chr6:167581357-167581677	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:167584315-167584528	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:167582908-167583179	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:167583008-167583029	MCF-7	breast:	n/a	n/a
11	POLR2A	chr6:167582937-167582939	MCF-7	breast:	n/a	n/a
12	POLR2A	chr6:167582820-167582988	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:167583200-167583249	MCF-7	breast:	n/a	n/a
14	POLR2A	chr6:167583030-167583187	MCF-7	breast:	n/a	n/a
15	POU2F2	chr6:167582726-167583180	GM12878	blood:	n/a	n/a
16	SPI1	chr6:167583322-167583616	GM12878	blood:	n/a	n/a
17	SPI1	chr6:167581349-167581560	K562	blood:	n/a	n/a
18	TCF3	chr6:167581418-167581682	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167581988-167582038	HepG2	liver:	n/a
2	chr6:167581988-167582038	IMR90	lung:	fetal
3	chr6:167584201-167584251	HCT-116	colon:	n/a
4	chr6:167584201-167584251	HRCEpiC	kidney:	n/a
5	chr6:167581988-167582038	HCF	heart:	n/a
6	chr6:167581988-167582038	ovcar-3	ovarian:	n/a
7	chr6:167581988-167582038	NB4	blood:	n/a
8	chr6:167584201-167584251	PANC-1	pancreas:	n/a
9	chr6:167581988-167582038	NT2-D1	testis:	n/a
10	chr6:167581988-167582038	BE2_C	brain:	n/a
11	chr6:167581988-167582038	LNCaP	prostate:	n/a
12	chr6:167584201-167584251	NB4	blood:	n/a
13	chr6:167584201-167584251	ProgFib	skin:	n/a
14	chr6:167584201-167584251	MCF-7	breast:	n/a
15	chr6:167584201-167584251	AG09309	skin:	n/a
16	chr6:167581988-167582038	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:167581988-167582038	GM12892	blood:	n/a
18	chr6:167584201-167584251	HCPEpiC	choroid plexus:	n/a
19	chr6:167581988-167582038	HRCEpiC	kidney:	n/a
20	chr6:167581988-167582038	HAEpiC	amniotic membrane:	n/a
21	chr6:167581988-167582038	H1-hESC	embryonic stem cell:	embryo
22	chr6:167584201-167584251	MCF10A-Er-Src	breast:	n/a
23	chr6:167581988-167582038	CMK	blood:	n/a
24	chr6:167581988-167582038	HL-60	blood:	n/a
25	chr6:167584201-167584251	AoSMC	blood vessel:	n/a
26	chr6:167584201-167584251	ECC-1	luminal epithelium:	n/a
27	chr6:167581988-167582038	Hela-S3	cervix:	n/a
28	chr6:167581988-167582038	PrEC	prostate:	n/a
29	chr6:167581988-167582038	SK-N-SH	brain:	n/a
30	chr6:167581988-167582038	MCF10A-Er-Src	breast:	n/a
31	chr6:167584201-167584251	HAEpiC	amniotic membrane:	n/a
32	chr6:167581988-167582038	HUVEC	blood vessel:	n/a
33	chr6:167581988-167582038	AG10803	skin:	n/a
34	chr6:167584201-167584251	BE2_C	brain:	n/a
35	chr6:167584201-167584251	GM12878	blood:	n/a
36	chr6:167581988-167582038	K562	blood:	n/a
37	chr6:167581988-167582038	AG09319	gingival:	n/a
38	chr6:167584201-167584251	HEK293	kidney:	embryo
39	chr6:167584201-167584251	GM12892	blood:	n/a
40	chr6:167581988-167582038	PFSK-1	brain:	n/a
41	chr6:167584201-167584251	HIPEpiC	eye:	n/a
42	chr6:167584201-167584251	HCM	heart:	n/a
43	chr6:167581988-167582038	ProgFib	skin:	n/a
44	chr6:167581988-167582038	GM19239	blood:	n/a
45	chr6:167581988-167582038	AoSMC	blood vessel:	n/a
46	chr6:167584201-167584251	Jurkat	blood:	n/a
47	chr6:167581988-167582038	HCPEpiC	choroid plexus:	n/a
48	chr6:167584201-167584251	HPAEpiC	pulmonary alveolar:	n/a
49	chr6:167581988-167582038	NHDF-neo	bronchial:	n/a
50	chr6:167584201-167584251	Caco-2	colon:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR31-3	chr6:167583039-167583124	FPKM1_group_28907_transcript_1
2	lnc-GPR31-3	chr6:167583147-167583385	FPKM1_group_28907_transcript_1
3	lnc-GPR31-3	chr6:167582786-167583034	FPKM1_group_28907_transcript_1
4	lnc-GPR31-3	chr6:167582786-167583124	NONHSAT116085
5	lnc-GPR31-3	chr6:167583147-167583385	NONHSAT116085
6	lnc-CCR6-2	chr6:167584146-167584210	NONHSAT116086
7	lnc-CCR6-2	chr6:167584159-167584210	NONHSAT116087

No data

Variant related genes	Relation type
TCP10L2	TF binding region
TCP10L2	CpG island

Extended variants
information (count: 143 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555726464	chr6:167580969-167580970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567451383	chr6:167580970-167580971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141808281	chr6:167580975-167580976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556179317	chr6:167580990-167580991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28362129	chr6:167580993-167580994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570794685	chr6:167581007-167581008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186290313	chr6:167581012-167581013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553485950	chr6:167581097-167581098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60453433	chr6:167581151-167581152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369582643	chr6:167581153-167581154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115487035	chr6:167581165-167581166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147217312	chr6:167581179-167581180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571739515	chr6:167581216-167581217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542901068	chr6:167581218-167581219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2989523	chr6:167581360-167581361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77911451	chr6:167581374-167581375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs2983658	chr6:167581384-167581385	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs62436847	chr6:167581411-167581412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs191798310	chr6:167581502-167581503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs561264427	chr6:167581525-167581526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs201042762	chr6:167581604-167581605	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs202111904	chr6:167581614-167581615	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2989525	chr6:167581632-167581633	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs3756852	chr6:167581648-167581649	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199642763	chr6:167581652-167581653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200188243	chr6:167581682-167581683	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs201570541	chr6:167581761-167581762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543657202	chr6:167581780-167581781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62436848	chr6:167581801-167581802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71571480	chr6:167581823-167581824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146462128	chr6:167581827-167581828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190822830	chr6:167581833-167581834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532487111	chr6:167581938-167581939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183366226	chr6:167581947-167581948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566056689	chr6:167581964-167581965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188380117	chr6:167581989-167581990	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs530151014	chr6:167581995-167581996	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs549262787	chr6:167581999-167582000	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs57829712	chr6:167582035-167582036	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs537998364	chr6:167582045-167582046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556076201	chr6:167582056-167582057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571466186	chr6:167582065-167582066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538335639	chr6:167582142-167582143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553868473	chr6:167582156-167582157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145498233	chr6:167582191-167582192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199693787	chr6:167582202-167582203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571675466	chr6:167582226-167582227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370441311	chr6:167582243-167582244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542238600	chr6:167582249-167582250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554793332	chr6:167582277-167582278	Weak transcription	n/a	n/a	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
Cancer	20164919	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167579200-167586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:167579200-167587600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:167579400-167582800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:167582800-167583200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167582800-167583200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:167582800-167583200	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr6:167582800-167583400	Enhancers	Gastric	stomach
8	chr6:167582800-167583400	Enhancers	Pancreas	Pancrea
9	chr6:167583000-167583400	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:167583200-167583400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:167583200-167583400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr6:167583200-167591400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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