Variant report

Variant	nsv981207
Chromosome Location	chr6:167579341-167591824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:733)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:167579793-167579855	HepG2	liver:	n/a	n/a
2	CEBPB	chr6:167579820-167579847	A549	lung:	n/a	n/a
3	CTCF	chr6:167583941-167583989	LNCaP	prostate:	n/a	n/a
4	CTCF	chr6:167582372-167582420	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr6:167582908-167582917	GM19239	blood:	n/a	n/a
6	CTCF	chr6:167582989-167583038	GM12892	blood:	n/a	n/a
7	E2F6	chr6:167578734-167579475	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAFK	chr6:167579968-167580148	HepG2	liver:	n/a	chr6:167580095-167580115 chr6:167580095-167580106
9	MAFK	chr6:167580038-167580202	HepG2	liver:	n/a	chr6:167580095-167580115 chr6:167580095-167580106
10	MYC	chr6:167590000-167590032	HUVEC	blood vessel:	n/a	n/a
11	MYC	chr6:167589882-167589893	HUVEC	blood vessel:	n/a	n/a
12	MYC	chr6:167583199-167583454	H1-hESC	embryonic stem cell:	n/a	n/a
13	PAX5	chr6:167583073-167583299	GM12878	blood:	n/a	n/a
14	PBX3	chr6:167581357-167581677	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:167582908-167583179	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:167582820-167582988	HepG2	liver:	n/a	n/a
17	POLR2A	chr6:167584315-167584528	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:167582937-167582939	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:167589910-167589939	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:167589941-167590031	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr6:167579512-167579974	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr6:167583200-167583249	MCF-7	breast:	n/a	n/a
23	POLR2A	chr6:167583008-167583029	MCF-7	breast:	n/a	n/a
24	POLR2A	chr6:167583030-167583187	MCF-7	breast:	n/a	n/a
25	POLR2A	chr6:167579535-167579924	H1-neurons	neurons:	n/a	n/a
26	POU2F2	chr6:167582726-167583180	GM12878	blood:	n/a	n/a
27	REST	chr6:167579570-167580056	H1-neurons	neurons:	n/a	n/a
28	SPI1	chr6:167583322-167583616	GM12878	blood:	n/a	n/a
29	SPI1	chr6:167581349-167581560	K562	blood:	n/a	n/a
30	TCF3	chr6:167581418-167581682	GM12878	blood:	n/a	n/a
31	USF1	chr6:167585836-167585955	HepG2	liver:	n/a	chr6:167585922-167585933

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167587692-167587742	SK-N-SH_RA	brain:	n/a
2	chr6:167587692-167587742	SK-N-SH_RA	brain:	n/a
3	chr6:167589878-167589928	Hepatocyte	liver:	n/a
4	chr6:167589323-167589373	GM12891	blood:	n/a
5	chr6:167586206-167586256	NH-A	brain:	n/a
6	chr6:167586206-167586256	ProgFib	skin:	n/a
7	chr6:167590911-167590961	HRPEpiC	eye:	n/a
8	chr6:167589370-167589420	ProgFib	skin:	n/a
9	chr6:167589323-167589373	NB4	blood:	n/a
10	chr6:167587558-167587608	Hela-S3	cervix:	n/a
11	chr6:167584900-167584950	SK-N-SH_RA	brain:	n/a
12	chr6:167586206-167586256	PFSK-1	brain:	n/a
13	chr6:167587692-167587742	GM12878	blood:	n/a
14	chr6:167591040-167591090	HEK293	kidney:	embryo
15	chr6:167581988-167582038	PANC-1	pancreas:	n/a
16	chr6:167584900-167584950	Hela-S3	cervix:	n/a
17	chr6:167589323-167589373	HL-60	blood:	n/a
18	chr6:167589878-167589928	SAEC	small airway:	n/a
19	chr6:167586206-167586256	PrEC	prostate:	n/a
20	chr6:167589878-167589928	AoSMC	blood vessel:	n/a
21	chr6:167587558-167587608	MCF10A-Er-Src	breast:	n/a
22	chr6:167589370-167589420	HRCEpiC	kidney:	n/a
23	chr6:167591040-167591090	HMEC	breast:	n/a
24	chr6:167591040-167591090	AG09309	skin:	n/a
25	chr6:167589878-167589928	AG09309	skin:	n/a
26	chr6:167587558-167587608	Jurkat	blood:	n/a
27	chr6:167589878-167589928	HAEpiC	amniotic membrane:	n/a
28	chr6:167591040-167591090	SK-N-MC	brain:	n/a
29	chr6:167591040-167591090	HAEpiC	amniotic membrane:	n/a
30	chr6:167587808-167587858	HEK293	kidney:	embryo
31	chr6:167584900-167584950	IMR90	lung:	fetal
32	chr6:167584201-167584251	HRCEpiC	kidney:	n/a
33	chr6:167587808-167587858	NHBE	bronchial:	n/a
34	chr6:167587692-167587742	HIPEpiC	eye:	n/a
35	chr6:167584201-167584251	Caco-2	colon:	n/a
36	chr6:167587808-167587858	MCF-7	breast:	n/a
37	chr6:167589370-167589420	BE2_C	brain:	n/a
38	chr6:167589878-167589928	HIPEpiC	eye:	n/a
39	chr6:167584900-167584950	HRE	kidney:	n/a
40	chr6:167587808-167587858	HRE	kidney:	n/a
41	chr6:167590911-167590961	K562	blood:	n/a
42	chr6:167589370-167589420	PrEC	prostate:	n/a
43	chr6:167590911-167590961	BJ	skin:	n/a
44	chr6:167591040-167591090	MCF10A-Er-Src	breast:	n/a
45	chr6:167591040-167591090	SAEC	small airway:	n/a
46	chr6:167589323-167589373	NHDF-neo	bronchial:	n/a
47	chr6:167590911-167590961	T-47D	breast:	n/a
48	chr6:167587692-167587742	K562	blood:	n/a
49	chr6:167586206-167586256	HEK293	kidney:	embryo
50	chr6:167584201-167584251	HL-60	blood:	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCR6-2	chr6:167590485-167590622	NONHSAT116087
2	lnc-CCR6-2	chr6:167585632-167586297	NONHSAT116086
3	lnc-GPR31-3	chr6:167583039-167583124	FPKM1_group_28907_transcript_1
4	lnc-CCR6-1	chr6:167579265-167579394	NONHSAT116084
5	lnc-CCR6-2	chr6:167584159-167584210	NONHSAT116087
6	lnc-CCR6-2	chr6:167584146-167584210	NONHSAT116086
7	lnc-GPR31-3	chr6:167583147-167583385	FPKM1_group_28907_transcript_1
8	lnc-GPR31-3	chr6:167583147-167583385	NONHSAT116085
9	lnc-GPR31-3	chr6:167582786-167583124	NONHSAT116085
10	lnc-GPR31-3	chr6:167582786-167583034	FPKM1_group_28907_transcript_1

No data

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

Extended variants
information (count: 586 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540452153	chr6:167579409-167579410	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs181553529	chr6:167579518-167579519	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546330172	chr6:167579539-167579540	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs370927474	chr6:167579551-167579552	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs573786141	chr6:167579658-167579659	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2297470	chr6:167579677-167579678	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562501374	chr6:167579692-167579693	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs532815774	chr6:167579721-167579722	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552034584	chr6:167579747-167579748	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560645478	chr6:167579811-167579812	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs55994332	chr6:167579833-167579834	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs185035161	chr6:167579840-167579841	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567562306	chr6:167579841-167579842	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs2297469	chr6:167579918-167579919	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189498052	chr6:167579921-167579922	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs571601727	chr6:167579925-167579926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538674687	chr6:167579930-167579931	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558001843	chr6:167579935-167579936	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181001651	chr6:167579966-167579967	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs533930774	chr6:167580022-167580023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs142496551	chr6:167580023-167580024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150926203	chr6:167580105-167580106	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs2297468	chr6:167580179-167580180	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs544013198	chr6:167580183-167580184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186035782	chr6:167580257-167580258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146862015	chr6:167580279-167580280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189709170	chr6:167580370-167580371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563078215	chr6:167580421-167580422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560798049	chr6:167580430-167580431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368619042	chr6:167580432-167580433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112977667	chr6:167580480-167580481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527970523	chr6:167580500-167580501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116096477	chr6:167580509-167580510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374513560	chr6:167580522-167580523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555344339	chr6:167580552-167580553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9459899	chr6:167580583-167580584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113880602	chr6:167580585-167580586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140639644	chr6:167580606-167580607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181947524	chr6:167580618-167580619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368398820	chr6:167580638-167580639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372009151	chr6:167580666-167580667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555572657	chr6:167580737-167580738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145599689	chr6:167580776-167580777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148882865	chr6:167580793-167580794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117546991	chr6:167580799-167580800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397834980	chr6:167580807-167580808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145214897	chr6:167580824-167580825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547482073	chr6:167580867-167580868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566103201	chr6:167580879-167580880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534077577	chr6:167580890-167580891	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167577600-167579400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:167577600-167579600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr6:167578800-167579400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:167579200-167586200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167579200-167587600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:167579400-167582800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:167582800-167583200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:167582800-167583200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:167582800-167583200	Bivalent/Poised TSS	Fetal Kidney	kidney
10	chr6:167582800-167583400	Enhancers	Gastric	stomach
11	chr6:167582800-167583400	Enhancers	Pancreas	Pancrea
12	chr6:167583000-167583400	Enhancers	Primary B cells from peripheral blood	blood
13	chr6:167583200-167583400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:167583200-167583400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
15	chr6:167583200-167591400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:167584800-167585000	Enhancers	Pancreas	Pancrea
17	chr6:167586200-167586400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:167586400-167587600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:167587600-167587800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr6:167587600-167587800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:167587800-167589000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:167589000-167589200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:167591000-167591200	Bivalent Enhancer	HepG2	liver

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