Variant report

Variant	esv3407275
Chromosome Location	chr6:149498209-149500207
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	ARID3A	chr6:149497988-149498629	HepG2	liver:	n/a	n/a
2	BHLHE40	chr6:149498199-149498559	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:149498187-149498474	HepG2	liver:	n/a	n/a
4	CEBPB	chr6:149498194-149498437	HepG2	liver:	n/a	n/a
5	CTCF	chr6:149499280-149499430	NB4	blood:	n/a	n/a
6	EP300	chr6:149498015-149498557	HepG2	liver:	n/a	n/a
7	EP300	chr6:149498123-149498628	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:149498059-149498696	HepG2	liver:	n/a	n/a
9	FOXA1	chr6:149497954-149498716	HepG2	liver:	n/a	n/a
10	FOXA1	chr6:149498075-149498722	HepG2	liver:	n/a	n/a
11	FOXA1	chr6:149497938-149498772	HepG2	liver:	n/a	n/a
12	FOXA2	chr6:149497498-149498960	HepG2	liver:	n/a	n/a
13	FOXA2	chr6:149498040-149498623	HepG2	liver:	n/a	n/a
14	HDAC2	chr6:149498027-149498601	HepG2	liver:	n/a	chr6:149498368-149498382 chr6:149498366-149498380 chr6:149498364-149498378
15	HDAC2	chr6:149498093-149498535	HepG2	liver:	n/a	chr6:149498368-149498382 chr6:149498366-149498380 chr6:149498364-149498378
16	HNF4G	chr6:149498194-149498498	HepG2	liver:	n/a	chr6:149498348-149498364
17	JUND	chr6:149498267-149498570	HepG2	liver:	n/a	n/a
18	MBD4	chr6:149498018-149498589	HepG2	liver:	n/a	n/a
19	MBD4	chr6:149498058-149498624	HepG2	liver:	n/a	n/a
20	MYBL2	chr6:149497920-149498744	HepG2	liver:	n/a	n/a
21	MYBL2	chr6:149497970-149498615	HepG2	liver:	n/a	n/a
22	NFIC	chr6:149498082-149498518	HepG2	liver:	n/a	n/a
23	NFIC	chr6:149497965-149498684	HepG2	liver:	n/a	n/a
24	NR2F2	chr6:149498020-149498520	HepG2	liver:	n/a	n/a
25	NR2F2	chr6:149497988-149498712	HepG2	liver:	n/a	n/a
26	RAD21	chr6:149498254-149498579	HepG2	liver:	n/a	n/a
27	RCOR1	chr6:149498196-149498488	HepG2	liver:	n/a	n/a
28	REST	chr6:149498083-149498550	HepG2	liver:	n/a	chr6:149498286-149498306 chr6:149498286-149498306
29	RFX5	chr6:149498188-149498472	HepG2	liver:	n/a	n/a
30	RXRA	chr6:149498117-149498570	HepG2	liver:	n/a	n/a
31	SMC3	chr6:149498267-149498477	HepG2	liver:	n/a	n/a
32	SP1	chr6:149498093-149498530	HepG2	liver:	n/a	n/a
33	SPI1	chr6:149500131-149500477	HL-60	blood:	n/a	n/a
34	TCF12	chr6:149498145-149498502	HepG2	liver:	n/a	n/a
35	TCF7L2	chr6:149498107-149498568	HepG2	liver:	n/a	n/a
36	TEAD4	chr6:149497942-149498614	HepG2	liver:	n/a	n/a
37	ZBTB33	chr6:149498017-149498563	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149499792..149502412-chr6:149727216..149730047,2	K562	blood:
2	chr6:149499947..149501664-chr6:149502246..149504555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263481	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9498241	chr6:149498250-149498251	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7751665	chr6:149498383-149498384	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77021503	chr6:149498449-149498450	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs563304469	chr6:149498455-149498456	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs191084436	chr6:149498492-149498493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552247699	chr6:149498591-149498592	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138392010	chr6:149498609-149498610	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs7776204	chr6:149498654-149498655	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143888263	chr6:149498668-149498669	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs548421914	chr6:149498685-149498686	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs568335853	chr6:149498694-149498695	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111412570	chr6:149498697-149498698	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537348523	chr6:149498699-149498700	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs556559294	chr6:149498700-149498701	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201601803	chr6:149498706-149498707	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs538132380	chr6:149498707-149498708	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576377967	chr6:149498758-149498759	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs538682893	chr6:149498805-149498806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558992840	chr6:149498812-149498813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182138891	chr6:149498813-149498814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541197578	chr6:149498820-149498821	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs561147556	chr6:149498848-149498849	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs545850399	chr6:149498886-149498887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375115174	chr6:149498935-149498936	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574750453	chr6:149499029-149499030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111892980	chr6:149499081-149499082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563873245	chr6:149499099-149499100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191343260	chr6:149499129-149499130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551921785	chr6:149499134-149499135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559367472	chr6:149499179-149499180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6920082	chr6:149499206-149499207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375138558	chr6:149499240-149499241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184782841	chr6:149499241-149499242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537286675	chr6:149499296-149499297	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs140538295	chr6:149499298-149499299	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs111924647	chr6:149499308-149499309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6920401	chr6:149499312-149499313	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs373397832	chr6:149499315-149499316	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143607433	chr6:149499371-149499372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376555981	chr6:149499372-149499373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs558700861	chr6:149499387-149499388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs367941570	chr6:149499390-149499391	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs375097995	chr6:149499399-149499400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs66954498	chr6:149499400-149499401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368167911	chr6:149499401-149499402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs6920868	chr6:149499408-149499409	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187998115	chr6:149499449-149499450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554682923	chr6:149499452-149499453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78019633	chr6:149499454-149499455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73600091	chr6:149499457-149499458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Autism	21448237	CNVD
Autism	22495311	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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149492200-149503600	Weak transcription	Right Atrium	heart
2	chr6:149497800-149498600	Bivalent Enhancer	HepG2	liver
3	chr6:149498200-149498400	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr6:149498200-149498600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:149498200-149498600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:149498200-149498600	Flanking Active TSS	Liver	Liver
7	chr6:149498200-149498600	Enhancers	Brain Angular Gyrus	brain
8	chr6:149498200-149498600	Enhancers	Brain Hippocampus Middle	brain
9	chr6:149498200-149498800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:149500000-149500600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:149500000-149500600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:149500000-149500800	Enhancers	Adipose Nuclei	Adipose

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