Variant report

Variant	esv3519040
Chromosome Location	chr6:165724319-165732567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:165730351-165730533	H1-hESC	embryonic stem cell:	n/a	chr6:165730431-165730441 chr6:165730435-165730444
2	REST	chr6:165730334-165730521	H1-hESC	embryonic stem cell:	n/a	chr6:165730431-165730441 chr6:165730435-165730444

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:165724355-165724405	SAEC	small airway:	n/a
2	chr6:165724355-165724405	H1-hESC	embryonic stem cell:	embryo
3	chr6:165724355-165724405	HUVEC	blood vessel:	n/a
4	chr6:165724355-165724405	BJ	skin:	n/a
5	chr6:165724355-165724405	LNCaP	prostate:	n/a
6	chr6:165724355-165724405	NH-A	brain:	n/a
7	chr6:165724355-165724405	GM19239	blood:	n/a
8	chr6:165724355-165724405	Hepatocyte	liver:	n/a
9	chr6:165724355-165724405	GM12892	blood:	n/a
10	chr6:165724355-165724405	PANC-1	pancreas:	n/a
11	chr6:165724355-165724405	HCF	heart:	n/a
12	chr6:165724355-165724405	T-47D	breast:	n/a
13	chr6:165724355-165724405	U87	brain:	n/a
14	chr6:165724355-165724405	HRE	kidney:	n/a
15	chr6:165724355-165724405	HCM	heart:	n/a
16	chr6:165724355-165724405	Caco-2	colon:	n/a
17	chr6:165724355-165724405	GM12878	blood:	n/a
18	chr6:165724355-165724405	RPTEC	kidney:	n/a
19	chr6:165724355-165724405	IMR90	lung:	fetal
20	chr6:165724355-165724405	AG04450	lung:	fetal
21	chr6:165724355-165724405	BE2_C	brain:	n/a
22	chr6:165724355-165724405	AG09309	skin:	n/a
23	chr6:165724355-165724405	AG09319	gingival:	n/a
24	chr6:165724355-165724405	HL-60	blood:	n/a
25	chr6:165724355-165724405	HCT-116	colon:	n/a
26	chr6:165724355-165724405	ProgFib	skin:	n/a
27	chr6:165724355-165724405	MCF10A-Er-Src	breast:	n/a
28	chr6:165724355-165724405	Hela-S3	cervix:	n/a
29	chr6:165724355-165724405	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:165724355-165724405	Jurkat	blood:	n/a
31	chr6:165724355-165724405	NT2-D1	testis:	n/a
32	chr6:165724355-165724405	ovcar-3	ovarian:	n/a
33	chr6:165724355-165724405	SK-N-MC	brain:	n/a
34	chr6:165724355-165724405	HepG2	liver:	n/a
35	chr6:165724355-165724405	PFSK-1	brain:	n/a
36	chr6:165724355-165724405	HRPEpiC	eye:	n/a
37	chr6:165724355-165724405	HMEC	breast:	n/a
38	chr6:165724355-165724405	SK-N-SH	brain:	n/a
39	chr6:165724355-165724405	NHDF-neo	bronchial:	n/a
40	chr6:165724355-165724405	PrEC	prostate:	n/a
41	chr6:165724355-165724405	ECC-1	luminal epithelium:	n/a
42	chr6:165724355-165724405	NB4	blood:	n/a
43	chr6:165724355-165724405	HEK293	kidney:	embryo
44	chr6:165724355-165724405	HAEpiC	amniotic membrane:	n/a
45	chr6:165724355-165724405	HCPEpiC	choroid plexus:	n/a
46	chr6:165724355-165724405	GM06990	blood:	n/a
47	chr6:165724355-165724405	K562	blood:	n/a
48	chr6:165724355-165724405	CMK	blood:	n/a
49	chr6:165724355-165724405	SKMC	muscle:	n/a
50	chr6:165724355-165724405	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:165726694..165728455-chr6:165728585..165730141,2	MCF-7	breast:
2	chr6:165726694..165728455-chr6:165728585..165730141,2	MCF-7	breast:

No data

Variant related genes	Relation type
C6orf118	TF binding region
C6orf118	CpG island

Extended variants
information (count: 177 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386708349	chr6:165724325-165724326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182348575	chr6:165724326-165724327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs501712	chr6:165724332-165724333	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554490972	chr6:165724362-165724363	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs572647274	chr6:165724388-165724389	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs555124698	chr6:165724402-165724403	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs149065999	chr6:165724505-165724506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186161933	chr6:165724518-165724519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573794076	chr6:165724528-165724529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191832807	chr6:165724552-165724553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544294675	chr6:165724566-165724567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562673205	chr6:165724567-165724568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533105987	chr6:165724609-165724610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376460810	chr6:165724622-165724623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369028421	chr6:165724624-165724625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544875686	chr6:165724645-165724646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560428385	chr6:165724707-165724708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527577773	chr6:165724712-165724713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34662684	chr6:165724783-165724784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548983167	chr6:165724913-165724914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567295720	chr6:165724920-165724921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531696511	chr6:165724990-165724991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549823153	chr6:165725026-165725027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571641844	chr6:165725133-165725134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34503850	chr6:165725223-165725224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74616420	chr6:165725245-165725246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144693118	chr6:165725334-165725335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77577979	chr6:165725524-165725525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184184536	chr6:165725618-165725619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555422499	chr6:165725632-165725633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573631493	chr6:165725671-165725672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544331323	chr6:165725842-165725843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112870223	chr6:165725843-165725844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563977373	chr6:165725893-165725894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111877403	chr6:165725920-165725921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187444314	chr6:165725974-165725975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145852912	chr6:165725995-165725996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192333534	chr6:165726240-165726241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542467439	chr6:165726252-165726253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531124220	chr6:165726354-165726355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560957851	chr6:165726378-165726379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182639770	chr6:165726386-165726387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549763155	chr6:165726474-165726475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571740152	chr6:165726514-165726515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35960417	chr6:165726678-165726679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187022870	chr6:165726683-165726684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547984596	chr6:165726784-165726785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566110393	chr6:165726879-165726880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549124054	chr6:165726888-165726889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192921019	chr6:165726891-165726892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165723000-165724400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:165723200-165726000	Weak transcription	Right Atrium	heart
3	chr6:165723200-165733800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:165724000-165725000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:165730000-165730600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:165730400-165731200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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