Variant report

Variant	esv1204372
Chromosome Location	chr6:147889-147895
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr6:147764-147960	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:147742-147991	GM12878	blood:	n/a	n/a
3	BCL11A	chr6:147772-148018	GM12878	blood:	n/a	n/a
4	CBX3	chr6:147719-149437	K562	blood:	n/a	n/a
5	CBX3	chr6:147664-149413	K562	blood:	n/a	n/a
6	CEBPB	chr6:147700-148106	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:147755-147949	K562	blood:	n/a	n/a
8	CTCF	chr6:147604-149357	K562	blood:	n/a	n/a
9	CTCF	chr6:147737-149486	K562	blood:	n/a	n/a
10	EBF1	chr6:147757-147987	GM12878	blood:	n/a	n/a
11	EP300	chr6:147807-148032	GM12878	blood:	n/a	n/a
12	EP300	chr6:147657-148005	GM12878	blood:	n/a	n/a
13	FOSL2	chr6:147610-148026	HepG2	liver:	n/a	n/a
14	FOSL2	chr6:147682-148043	HepG2	liver:	n/a	n/a
15	GABPA	chr6:147756-147975	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr6:147788-147959	Hela-S3	cervix:	n/a	n/a
17	IRF4	chr6:147769-148000	GM12878	blood:	n/a	n/a
18	IRF4	chr6:147615-148071	GM12878	blood:	n/a	n/a
19	JUND	chr6:147722-147993	HepG2	liver:	n/a	n/a
20	JUND	chr6:147827-147944	HepG2	liver:	n/a	n/a
21	KAP1	chr6:147765-148943	K562	blood:	n/a	n/a
22	MAX	chr6:147798-148019	HepG2	liver:	n/a	n/a
23	NR2F2	chr6:147572-148179	K562	blood:	n/a	n/a
24	NR2F2	chr6:147699-148086	K562	blood:	n/a	n/a
25	PAX5	chr6:147734-147970	GM12878	blood:	n/a	n/a
26	PAX5	chr6:147715-148043	GM12878	blood:	n/a	n/a
27	PAX5	chr6:147691-148079	GM12878	blood:	n/a	n/a
28	PAX5	chr6:147791-147986	GM12878	blood:	n/a	n/a
29	PBX3	chr6:147770-148003	GM12878	blood:	n/a	n/a
30	PBX3	chr6:147755-148001	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:147813-147944	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:147695-148007	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:147693-148019	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:147731-147994	GM12891	blood:	n/a	n/a
35	POLR2A	chr6:147709-148204	GM12892	blood:	n/a	n/a
36	POLR2A	chr6:147663-148138	GM12891	blood:	n/a	n/a
37	POLR2A	chr6:147719-148023	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:147734-147992	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr6:147757-148034	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr6:147742-148071	U87	brain:	n/a	n/a
41	POLR2A	chr6:147604-148175	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr6:147475-148079	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:147676-147988	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr6:147752-148076	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr6:147417-148285	PFSK-1	brain:	n/a	n/a
46	POLR2A	chr6:147676-148046	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr6:147636-147987	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr6:147805-147994	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:147634-148042	U87	brain:	n/a	n/a
50	POU2F2	chr6:147794-148019	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
CICP18	TF binding region
LINC00266-3	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200160087	chr6:147891-147892	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Cancer	20164919	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147600-148000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:147600-148200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr6:147800-148800	Strong transcription	Right Atrium	heart

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