Variant report

Variant	esv3471657
Chromosome Location	chr6:169752-175550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:174130-174338	HepG2	liver:	n/a	chr6:174244-174255
2	CEBPB	chr6:175194-175390	Hela-S3	cervix:	n/a	n/a
3	PAX5	chr6:171542-171848	GM12878	blood:	n/a	n/a
4	SETDB1	chr6:171475-171820	U2OS	brain:	n/a	n/a
5	TCF7L2	chr6:170733-170860	HepG2	liver:	n/a	chr6:170790-170800

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:174671..177385-chr6:182024..184445,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOC2-20	chr6:171827-172220	NONHSAT105972
2	lnc-EXOC2-20	chr6:169545-169753	NONHSAT105971
3	lnc-AL035696.1-6	chr6:169950-170088	NONHSAT105973
4	lnc-EXOC2-20	chr6:170352-170631	NONHSAT105971
5	lnc-AL035696.1-6	chr6:170686-171068	NONHSAT105973
6	lnc-AL035696.1-6	chr6:171079-171400	NONHSAT105973
7	lnc-EXOC2-20	chr6:168171-170561	NONHSAT105972

No data

Variant related genes	Relation type
ENSG00000218577	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538515352	chr6:169759-169760	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563426150	chr6:169773-169774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs139197019	chr6:169795-169796	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529390246	chr6:169812-169813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs370950257	chr6:169822-169823	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs111916764	chr6:169958-169959	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs375242098	chr6:170038-170039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369783349	chr6:170040-170041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs111992930	chr6:170047-170048	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373581881	chr6:170057-170058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs61640162	chr6:170191-170192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555275292	chr6:170205-170206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs367751571	chr6:170216-170217	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs371015320	chr6:170499-170500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs199818599	chr6:170746-170747	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs114374078	chr6:170799-170800	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs9378598	chr6:170824-170825	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs373074916	chr6:170957-170958	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376492442	chr6:171003-171004	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs114421543	chr6:171132-171133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs72821762	chr6:171385-171386	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs371035427	chr6:171609-171610	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374337196	chr6:171615-171616	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs377512338	chr6:171616-171617	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs370200842	chr6:171620-171621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374489152	chr6:171625-171626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372374364	chr6:171630-171631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs199500832	chr6:171645-171646	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs115328038	chr6:171649-171650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369613578	chr6:171661-171662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs374070455	chr6:171663-171664	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs386695883	chr6:171666-171667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs368254300	chr6:171672-171673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs386695884	chr6:171702-171703	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201687539	chr6:171704-171705	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs147820957	chr6:171716-171717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs386695885	chr6:171722-171723	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376710311	chr6:171747-171748	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs386695886	chr6:171748-171749	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200014549	chr6:171749-171750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs199682427	chr6:171751-171752	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs112527118	chr6:171762-171763	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs371363495	chr6:171782-171783	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs111659332	chr6:171795-171796	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs62388685	chr6:171806-171807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs372998075	chr6:171811-171812	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376243453	chr6:171827-171828	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs369121884	chr6:171846-171847	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs200479415	chr6:171847-171848	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs373413483	chr6:171919-171920	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495311	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:174800-178200	Weak transcription	Right Atrium	heart

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