Variant report

Variant	esv2179124
Chromosome Location	chr6:133119776-133119778
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	chr6:133119218-133120465	K562	blood:	n/a	n/a
2	BHLHE40	chr6:133119439-133120534	K562	blood:	n/a	chr6:133119739-133119755 chr6:133119681-133119697 chr6:133119678-133119694
3	CBX3	chr6:133119589-133120612	K562	blood:	n/a	n/a
4	CCNT2	chr6:133119383-133120565	K562	blood:	n/a	chr6:133119856-133119876 chr6:133119796-133119805
5	CEBPB	chr6:133119360-133120559	K562	blood:	n/a	n/a
6	CEBPB	chr6:133119314-133119789	Hela-S3	cervix:	n/a	n/a
7	CEBPD	chr6:133119523-133119805	HepG2	liver:	n/a	n/a
8	CEBPD	chr6:133119377-133120580	K562	blood:	n/a	n/a
9	CEBPD	chr6:133119644-133120614	K562	blood:	n/a	n/a
10	CHD2	chr6:133119408-133120365	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr6:133119740-133119890	HCM	heart:	n/a	n/a
12	CUX1	chr6:133119009-133120493	K562	blood:	n/a	n/a
13	E2F4	chr6:133119772-133120327	MCF10A-Er-Src	breast:	n/a	chr6:133119796-133119805
14	EGR1	chr6:133119599-133120002	K562	blood:	n/a	chr6:133119843-133119853 chr6:133119840-133119853 chr6:133119796-133119806 chr6:133119846-133119856 chr6:133119789-133119799 chr6:133119791-133119804
15	ELF1	chr6:133119361-133119801	K562	blood:	n/a	n/a
16	ELF1	chr6:133119345-133119909	GM12878	blood:	n/a	n/a
17	EP300	chr6:133119225-133120580	K562	blood:	n/a	n/a
18	ETS1	chr6:133119452-133119910	K562	blood:	n/a	chr6:133119502-133119512 chr6:133119615-133119628 chr6:133119844-133119855 chr6:133119847-133119858 chr6:133119794-133119805 chr6:133119842-133119853
19	GABPA	chr6:133119401-133119811	K562	blood:	n/a	chr6:133119796-133119805
20	GATA1	chr6:133119408-133121033	PBDE	blood:	n/a	n/a
21	GATA1	chr6:133118648-133120688	K562	blood:	n/a	n/a
22	GTF2B	chr6:133119549-133119820	K562	blood:	n/a	n/a
23	GTF2F1	chr6:133119572-133120341	H1-hESC	embryonic stem cell:	n/a	n/a
24	HCFC1	chr6:133119106-133120477	K562	blood:	n/a	n/a
25	HDAC2	chr6:133119476-133119848	H1-hESC	embryonic stem cell:	n/a	n/a
26	HDAC2	chr6:133119347-133119869	HepG2	liver:	n/a	chr6:133119392-133119406
27	HEY1	chr6:133119280-133120487	HepG2	liver:	n/a	chr6:133119843-133119858
28	HEY1	chr6:133119390-133119869	K562	blood:	n/a	chr6:133119843-133119858
29	HEY1	chr6:133119408-133119879	K562	blood:	n/a	chr6:133119843-133119858
30	HEY1	chr6:133119352-133119823	HepG2	liver:	n/a	n/a
31	HMGN3	chr6:133119401-133119943	K562	blood:	n/a	n/a
32	IRF1	chr6:133118742-133120554	K562	blood:	n/a	chr6:133119211-133119228 chr6:133119208-133119222 chr6:133119204-133119224 chr6:133120491-133120503 chr6:133119795-133119809 chr6:133119212-133119222 chr6:133119212-133119226 chr6:133120492-133120502
33	IRF1	chr6:133119367-133120505	K562	blood:	n/a	chr6:133120491-133120503 chr6:133119795-133119809 chr6:133120492-133120502
34	IRF1	chr6:133118982-133120534	K562	blood:	n/a	chr6:133119211-133119228 chr6:133119208-133119222 chr6:133119204-133119224 chr6:133120491-133120503 chr6:133119795-133119809 chr6:133119212-133119222 chr6:133119212-133119226 chr6:133120492-133120502
35	JUN	chr6:133119529-133120449	K562	blood:	n/a	chr6:133119846-133119855 chr6:133119847-133119856 chr6:133119843-133119852 chr6:133119680-133119689 chr6:133119844-133119853
36	JUND	chr6:133118948-133120631	K562	blood:	n/a	chr6:133119846-133119855 chr6:133119847-133119856 chr6:133119843-133119852 chr6:133119680-133119689 chr6:133119844-133119853
37	JUND	chr6:133119617-133119784	H1-hESC	embryonic stem cell:	n/a	chr6:133119680-133119689
38	MAFK	chr6:133119686-133120519	K562	blood:	n/a	n/a
39	MAX	chr6:133119372-133120414	GM12878	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
40	MAX	chr6:133119275-133119925	A549	lung:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
41	MAX	chr6:133119322-133120600	HCT-116	colon:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
42	MAX	chr6:133119371-133120534	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
43	MAX	chr6:133119294-133119934	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
44	MAX	chr6:133119395-133119904	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
45	MAX	chr6:133119156-133119844	Hela-S3	cervix:	n/a	chr6:133119635-133119643 chr6:133119790-133119800
46	MAX	chr6:133119310-133119859	ECC-1	luminal epithelium:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
47	MAX	chr6:133119266-133120686	HCT-116	colon:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
48	MAX	chr6:133119353-133119791	A549	lung:	n/a	chr6:133119635-133119643
49	MAZ	chr6:133119489-133119785	HepG2	liver:	n/a	chr6:133119635-133119643
50	MAZ	chr6:133119358-133120400	Hela-S3	cervix:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:133119734-133119784	SKMC	muscle:	n/a
2	chr6:133119734-133119784	NH-A	brain:	n/a
3	chr6:133119734-133119784	U87	brain:	n/a
4	chr6:133119739-133119789	ovcar-3	ovarian:	n/a
5	chr6:133119734-133119784	HMEC	breast:	n/a
6	chr6:133119739-133119789	HAEpiC	amniotic membrane:	n/a
7	chr6:133119739-133119789	SK-N-SH_RA	brain:	n/a
8	chr6:133119739-133119789	CMK	blood:	n/a
9	chr6:133119734-133119784	HCM	heart:	n/a
10	chr6:133119734-133119784	A549	lung:	n/a
11	chr6:133119739-133119789	SK-N-MC	brain:	n/a
12	chr6:133119734-133119784	GM12878	blood:	n/a
13	chr6:133119739-133119789	Jurkat	blood:	n/a
14	chr6:133119734-133119784	HCF	heart:	n/a
15	chr6:133119739-133119789	HRCEpiC	kidney:	n/a
16	chr6:133119734-133119784	AoSMC	blood vessel:	n/a
17	chr6:133119734-133119784	MCF-7	breast:	n/a
18	chr6:133119739-133119789	PrEC	prostate:	n/a
19	chr6:133119734-133119784	HNPCEpiC	eye:	n/a
20	chr6:133119734-133119784	HUVEC	blood vessel:	n/a
21	chr6:133119739-133119789	GM12892	blood:	n/a
22	chr6:133119739-133119789	BJ	skin:	n/a
23	chr6:133119734-133119784	HAEpiC	amniotic membrane:	n/a
24	chr6:133119739-133119789	HUVEC	blood vessel:	n/a
25	chr6:133119734-133119784	HRCEpiC	kidney:	n/a
26	chr6:133119739-133119789	SK-N-SH	brain:	n/a
27	chr6:133119734-133119784	T-47D	breast:	n/a
28	chr6:133119734-133119784	SK-N-MC	brain:	n/a
29	chr6:133119734-133119784	PrEC	prostate:	n/a
30	chr6:133119734-133119784	AG09319	gingival:	n/a
31	chr6:133119734-133119784	NHDF-neo	bronchial:	n/a
32	chr6:133119739-133119789	HepG2	liver:	n/a
33	chr6:133119739-133119789	AG10803	skin:	n/a
34	chr6:133119734-133119784	GM06990	blood:	n/a
35	chr6:133119734-133119784	HepG2	liver:	n/a
36	chr6:133119734-133119784	MCF10A-Er-Src	breast:	n/a
37	chr6:133119734-133119784	CMK	blood:	n/a
38	chr6:133119734-133119784	PFSK-1	brain:	n/a
39	chr6:133119739-133119789	Caco-2	colon:	n/a
40	chr6:133119739-133119789	RPTEC	kidney:	n/a
41	chr6:133119734-133119784	IMR90	lung:	fetal
42	chr6:133119734-133119784	NT2-D1	testis:	n/a
43	chr6:133119739-133119789	SAEC	small airway:	n/a
44	chr6:133119734-133119784	AG09309	skin:	n/a
45	chr6:133119739-133119789	NHDF-neo	bronchial:	n/a
46	chr6:133119734-133119784	ovcar-3	ovarian:	n/a
47	chr6:133119739-133119789	U87	brain:	n/a
48	chr6:133119739-133119789	HNPCEpiC	eye:	n/a
49	chr6:133119739-133119789	MCF10A-Er-Src	breast:	n/a
50	chr6:133119734-133119784	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
2	chr6:133119275..133120154-chr9:140135256..140136012,2	HCT-116	colon:
3	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
4	chr1:149857709..149858295-chr6:133119261..133119964,2	Hela-S3	cervix:
5	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
6	chr3:52312335..52312919-chr6:133119372..133120190,2	HCT-116	colon:
7	chr6:132832611..132834291-chr6:133118787..133121672,2	K562	blood:

Variant related genes	Relation type
SLC18B1	TF binding region
SLC18B1	CpG island
ENSG00000200534	chromatin interactions
ENSG00000206754	chromatin interactions
ENSG00000271488	chromatin interactions
ENSG00000112306	chromatin interactions
ENSG00000164091	chromatin interactions
ENSG00000079950	chromatin interactions
ENSG00000221500	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000184678	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 81 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386705997	chr6:133119776-133119777	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs3813347	chr6:133119778-133119779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133117200-133120600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:133118200-133120200	Active TSS	Fetal Lung	lung
3	chr6:133118200-133120400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr6:133118200-133120400	Active TSS	Brain Cingulate Gyrus	brain
5	chr6:133118200-133120400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:133118200-133120600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:133118200-133120600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:133118200-133120600	Active TSS	Brain Anterior Caudate	brain
9	chr6:133118400-133120200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:133118400-133120400	Active TSS	Placenta	Placenta
11	chr6:133118400-133120400	Active TSS	K562	blood
12	chr6:133118600-133120400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:133118600-133120400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:133118600-133120400	Active TSS	Hela-S3	cervix
15	chr6:133118800-133120000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:133118800-133120200	Active TSS	Primary T cells fromperipheralblood	blood
17	chr6:133118800-133120200	Active TSS	Brain Angular Gyrus	brain
18	chr6:133118800-133120200	Active TSS	Fetal Heart	heart
19	chr6:133118800-133120200	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr6:133118800-133120200	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:133118800-133120200	Active TSS	GM12878-XiMat	blood
22	chr6:133118800-133120200	Active TSS	HUVEC	blood vessel
23	chr6:133118800-133120400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:133118800-133120400	Active TSS	Colon Smooth Muscle	Colon
25	chr6:133118800-133120400	Active TSS	Fetal Intestine Large	intestine
26	chr6:133118800-133120400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:133118800-133120400	Active TSS	Right Atrium	heart
28	chr6:133118800-133120400	Active TSS	A549	lung
29	chr6:133118800-133120400	Active TSS	HMEC	breast
30	chr6:133118800-133120600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr6:133118800-133120600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:133118800-133120600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr6:133118800-133120600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr6:133118800-133120600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:133118800-133120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr6:133118800-133120600	Active TSS	Fetal Kidney	kidney
37	chr6:133118800-133120600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:133118800-133120600	Active TSS	Fetal Stomach	stomach
39	chr6:133118800-133120600	Active TSS	Osteobl	bone
40	chr6:133119000-133120000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:133119000-133120000	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:133119000-133120200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:133119000-133120200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:133119000-133120200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:133119000-133120200	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr6:133119000-133120200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:133119000-133120200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr6:133119000-133120200	Active TSS	Brain Germinal Matrix	brain
49	chr6:133119000-133120200	Active TSS	Fetal Muscle Leg	muscle
50	chr6:133119000-133120200	Active TSS	Rectal Smooth Muscle	rectum

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