Variant report

Variant	nsv969341
Chromosome Location	chr6:62000-102888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:72343-72572	GM12878	blood:	n/a	n/a
2	BATF	chr6:95146-95375	GM12878	blood:	n/a	n/a
3	BATF	chr6:95622-96139	GM12878	blood:	n/a	chr6:95695-95706 chr6:95686-95694
4	BATF	chr6:95545-95820	GM12878	blood:	n/a	chr6:95695-95706 chr6:95686-95694
5	BATF	chr6:96223-96447	GM12878	blood:	n/a	n/a
6	BATF	chr6:78850-79054	GM12878	blood:	n/a	n/a
7	BATF	chr6:83750-83949	GM12878	blood:	n/a	n/a
8	BATF	chr6:86401-86774	GM12878	blood:	n/a	n/a
9	BATF	chr6:96202-96545	GM12878	blood:	n/a	n/a
10	BATF	chr6:90689-90981	GM12878	blood:	n/a	n/a
11	BATF	chr6:91090-91367	GM12878	blood:	n/a	n/a
12	BCL11A	chr6:96233-96559	GM12878	blood:	n/a	n/a
13	BCL11A	chr6:86763-87399	GM12878	blood:	n/a	n/a
14	BCL11A	chr6:102874-103445	GM12878	blood:	n/a	n/a
15	BCL11A	chr6:78779-79099	GM12878	blood:	n/a	n/a
16	BCL11A	chr6:96111-96554	GM12878	blood:	n/a	n/a
17	BCL11A	chr6:94812-95042	GM12878	blood:	n/a	n/a
18	BHLHE40	chr6:95621-95922	HepG2	liver:	n/a	n/a
19	BHLHE40	chr6:96653-96896	HepG2	liver:	n/a	n/a
20	CTCF	chr6:90829-90895	HepG2	liver:	n/a	n/a
21	CTCF	chr6:90697-90988	A549	lung:	n/a	chr6:90883-90904
22	CTCF	chr6:90783-90984	K562	blood:	n/a	chr6:90883-90904
23	CTCF	chr6:86038-86423	K562	blood:	n/a	n/a
24	CTCF	chr6:90689-91023	A549	lung:	n/a	chr6:90883-90904
25	CTCF	chr6:86103-86510	K562	blood:	n/a	n/a
26	CTCF	chr6:90720-90870	RPTEC	kidney:	n/a	n/a
27	CTCF	chr6:90830-91015	K562	blood:	n/a	chr6:90883-90904
28	CTCF	chr6:70397-70430	GM13976	blood:	n/a	n/a
29	CTCF	chr6:86060-86376	A549	lung:	n/a	n/a
30	CTCF	chr6:86027-86396	K562	blood:	n/a	n/a
31	CTCF	chr6:90700-90850	RPTEC	kidney:	n/a	n/a
32	CTCF	chr6:68878-68971	GM13976	blood:	n/a	n/a
33	CTCF	chr6:90720-90870	AG10803	skin:	n/a	n/a
34	CTCF	chr6:69371-69503	GM13976	blood:	n/a	n/a
35	CTCF	chr6:86135-86421	A549	lung:	n/a	n/a
36	CTCF	chr6:67818-67848	GM13976	blood:	n/a	n/a
37	CTCF	chr6:76988-77269	K562	blood:	n/a	n/a
38	CTCF	chr6:90700-90850	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr6:86071-86317	A549	lung:	n/a	n/a
40	CTCF	chr6:86231-86274	GM10266	blood:	n/a	n/a
41	CTCF	chr6:63511-63631	GM10248	blood:	n/a	n/a
42	CTCF	chr6:90817-91027	GM12878	blood:	n/a	chr6:90883-90904
43	CTCF	chr6:90680-90830	K562	blood:	n/a	n/a
44	CTCF	chr6:90715-91021	A549	lung:	n/a	chr6:90883-90904
45	CTCF	chr6:90765-91025	K562	blood:	n/a	chr6:90883-90904
46	CTCF	chr6:90663-91014	A549	lung:	n/a	chr6:90883-90904
47	CTCF	chr6:85977-86432	A549	lung:	n/a	n/a
48	CTCF	chr6:90700-90850	HMF	breast:	n/a	n/a
49	CTCF	chr6:90677-91036	K562	blood:	n/a	chr6:90883-90904
50	EBF1	chr6:83764-84061	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL035696.1-8	chr6:101119-101514	NONHSAT105964
2	lnc-AL035696.1-10	chr6:79210-81728	NONHSAT105962
3	lnc-AL035696.1-8	chr6:100135-100395	NONHSAT105964
4	lnc-AL035696.1-10	chr6:77359-77713	NONHSAT105962
5	lnc-AL035696.1-9	chr6:95124-95454	NONHSAT105963
6	lnc-AL035696.1-8	chr6:101546-101639	NONHSAT105964

Variant related genes	Relation type
ENSG00000271530	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368476443	chr6:90129-90130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs372304507	chr6:90246-90247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369629360	chr6:90323-90324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372488701	chr6:90364-90365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs111846910	chr6:90410-90411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199785015	chr6:90737-90738	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs202118147	chr6:90807-90808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs556359425	chr6:90834-90835	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374149261	chr6:90835-90836	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199564577	chr6:92143-92144	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs369413365	chr6:92744-92745	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs373065985	chr6:92815-92816	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs370634928	chr6:101158-101159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs2266177	chr6:101224-101225	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs200918172	chr6:101390-101391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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