Variant report

Variant	esv18913
Chromosome Location	chr6:149629115-149633318
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	CEBPB	chr6:149632435-149632815	HepG2	liver:	n/a	chr6:149632618-149632629
2	CEBPB	chr6:149632425-149632813	K562	blood:	n/a	chr6:149632618-149632629
3	CEBPB	chr6:149632371-149632816	A549	lung:	n/a	chr6:149632618-149632629
4	CEBPB	chr6:149632449-149632807	A549	lung:	n/a	chr6:149632618-149632629
5	CEBPB	chr6:149632432-149632826	K562	blood:	n/a	chr6:149632618-149632629
6	CEBPB	chr6:149632535-149632743	K562	blood:	n/a	chr6:149632618-149632629
7	CEBPB	chr6:149632439-149632764	Hela-S3	cervix:	n/a	chr6:149632618-149632629
8	CEBPB	chr6:149632381-149632789	MCF-7	breast:	n/a	chr6:149632618-149632629
9	CEBPB	chr6:149632477-149632681	HepG2	liver:	n/a	chr6:149632618-149632629
10	CEBPB	chr6:149632409-149632699	HepG2	liver:	n/a	chr6:149632618-149632629
11	CEBPB	chr6:149632444-149632811	IMR90	lung:	n/a	chr6:149632618-149632629
12	CEBPB	chr6:149632436-149632772	ECC-1	luminal epithelium:	n/a	chr6:149632618-149632629
13	CEBPB	chr6:149632439-149632784	H1-hESC	embryonic stem cell:	n/a	chr6:149632618-149632629
14	CEBPB	chr6:149632438-149632789	MCF-7	breast:	n/a	chr6:149632618-149632629
15	CEBPB	chr6:149632458-149632815	ECC-1	luminal epithelium:	n/a	chr6:149632618-149632629
16	MAFF	chr6:149632989-149633232	HepG2	liver:	n/a	chr6:149633092-149633110
17	MAFK	chr6:149632958-149633249	HepG2	liver:	n/a	chr6:149633094-149633110 chr6:149633093-149633107 chr6:149633094-149633109 chr6:149633094-149633105 chr6:149633094-149633105
18	MAFK	chr6:149632958-149633191	IMR90	lung:	n/a	chr6:149633094-149633110 chr6:149633093-149633107 chr6:149633094-149633109 chr6:149633094-149633105 chr6:149633094-149633105
19	MAFK	chr6:149632967-149633252	HepG2	liver:	n/a	chr6:149633094-149633110 chr6:149633093-149633107 chr6:149633094-149633109 chr6:149633094-149633105 chr6:149633094-149633105
20	POLR2A	chr6:149631341-149631435	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
2	chr6:149629573..149635646-chr6:149637142..149639783,10	MCF-7	breast:
3	chr6:149401082..149403539-chr6:149632212..149635956,4	MCF-7	breast:
4	chr6:149628297..149630405-chr6:149634848..149636468,2	K562	blood:

Variant related genes	Relation type
FABP12P1	TF binding region
ENSG00000055208	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs657941	chr6:149629122-149629123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs657940	chr6:149629125-149629126	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540013888	chr6:149629141-149629142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9498313	chr6:149629173-149629174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs147014447	chr6:149629180-149629181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73609089	chr6:149629249-149629250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs647043	chr6:149629264-149629265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs497036	chr6:149629266-149629267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543888574	chr6:149629277-149629278	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557459413	chr6:149629278-149629279	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577334316	chr6:149629283-149629284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs496157	chr6:149629326-149629327	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs376660475	chr6:149629332-149629333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs496124	chr6:149629339-149629340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs496091	chr6:149629353-149629354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs543943414	chr6:149629359-149629360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561917490	chr6:149629439-149629440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs73781731	chr6:149629450-149629451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138170649	chr6:149629453-149629454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143675863	chr6:149629498-149629499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533476803	chr6:149629505-149629506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547170953	chr6:149629511-149629512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567102453	chr6:149629550-149629551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528507201	chr6:149629635-149629636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201006258	chr6:149629650-149629651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs67521731	chr6:149629654-149629655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs59267588	chr6:149629657-149629658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200294866	chr6:149629672-149629673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529498542	chr6:149629716-149629717	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs492461	chr6:149629725-149629726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568737845	chr6:149629750-149629751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111574019	chr6:149629751-149629752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149265519	chr6:149629812-149629813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144479329	chr6:149629822-149629823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367756012	chr6:149629836-149629837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553674868	chr6:149629865-149629866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569326305	chr6:149629936-149629937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573811302	chr6:149629954-149629955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs643921	chr6:149629955-149629956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13437621	chr6:149629958-149629959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527010	chr6:149629990-149629991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs643868	chr6:149629993-149629994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527079	chr6:149630014-149630015	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs643491	chr6:149630029-149630030	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547113291	chr6:149630070-149630071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182355979	chr6:149630106-149630107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs535316089	chr6:149630108-149630109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs529519555	chr6:149630113-149630114	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35438102	chr6:149630156-149630157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs549333293	chr6:149630160-149630161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149627800-149629200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr6:149628000-149629400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:149628000-149629400	Enhancers	Osteobl	bone
4	chr6:149628000-149637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:149628200-149629200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:149628200-149629400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:149628200-149629400	Enhancers	NH-A	brain
8	chr6:149628400-149629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:149628400-149629600	Enhancers	HSMM	muscle
10	chr6:149628600-149629200	Enhancers	HSMMtube	muscle
11	chr6:149628600-149629400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:149628600-149629800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:149628600-149629800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:149628600-149631800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:149628600-149637200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:149628800-149629400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:149628800-149629400	Weak transcription	NHDF-Ad	bronchial
18	chr6:149628800-149629800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:149629200-149630000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:149629400-149629600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:149629400-149629600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:149629400-149629600	Enhancers	NHDF-Ad	bronchial
23	chr6:149629800-149630000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:149629800-149630000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:149629800-149630000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:149631800-149632400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:149631800-149632400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:149632000-149632200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:149632000-149632400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:149632000-149632400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:149632200-149633000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:149632400-149632600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:149632400-149637200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:149633000-149633200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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