Variant report

Variant	rs73772954
Chromosome Location	chr6:133120130-133120131
allele	C/T
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	HEY1	chr6:133119280-133120487	HepG2	liver:	n/a	chr6:133119843-133119858
2	CEBPD	chr6:133119644-133120614	K562	blood:	n/a	n/a
3	CTCF	chr6:133120126-133120454	GM12878	blood:	n/a	n/a
4	ARID3A	chr6:133119218-133120465	K562	blood:	n/a	n/a
5	MAX	chr6:133120059-133120504	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:133119782-133120481	HCT-116	colon:	n/a	n/a
7	HEY1	chr6:133120093-133120542	K562	blood:	n/a	n/a
8	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
9	YY1	chr6:133120125-133120482	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:133120080-133120230	HAc	cerebellar:	n/a	n/a
11	RUNX3	chr6:133119890-133120461	GM12878	blood:	n/a	n/a
12	YY1	chr6:133120084-133120424	SK-N-SH_RA	brain:	n/a	n/a
13	MAX	chr6:133120047-133120446	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr6:133120073-133120476	HCT-116	colon:	n/a	n/a
15	GABPA	chr6:133119911-133120377	A549	lung:	n/a	n/a
16	BHLHE40	chr6:133119439-133120534	K562	blood:	n/a	chr6:133119739-133119755 chr6:133119681-133119697 chr6:133119678-133119694
17	ATF2	chr6:133120008-133120354	GM12878	blood:	n/a	n/a
18	MYC	chr6:133119359-133120562	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
19	FOXM1	chr6:133119841-133120548	GM12878	blood:	n/a	n/a
20	PAX5	chr6:133120061-133120383	GM12878	blood:	n/a	n/a
21	ELF1	chr6:133120088-133120411	K562	blood:	n/a	chr6:133120168-133120179
22	MYC	chr6:133120113-133120457	K562	blood:	n/a	n/a
23	CBX3	chr6:133119589-133120612	K562	blood:	n/a	n/a
24	CTCF	chr6:133120117-133120460	Gliobla	brain:	n/a	n/a
25	SMC3	chr6:133119932-133120481	GM12878	blood:	n/a	n/a
26	MAX	chr6:133120087-133120407	HepG2	liver:	n/a	n/a
27	POLR2A	chr6:133120061-133120497	K562	blood:	n/a	n/a
28	KAP1	chr6:133119965-133120475	U2OS	brain:	n/a	n/a
29	ELK1	chr6:133120024-133120382	GM12878	blood:	n/a	chr6:133120170-133120179 chr6:133120170-133120179
30	MXI1	chr6:133120005-133120450	HepG2	liver:	n/a	n/a
31	FOS	chr6:133120030-133120431	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr6:133119211-133120617	PBDE	blood:	n/a	n/a
33	YY1	chr6:133120116-133120497	K562	blood:	n/a	n/a
34	POLR2A	chr6:133119268-133120400	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr6:133119954-133120517	K562	blood:	n/a	n/a
36	ZNF143	chr6:133120103-133120515	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr6:133120129-133120379	K562	blood:	n/a	n/a
38	MYC	chr6:133120109-133120429	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr6:133120063-133120451	NB4	blood:	n/a	n/a
40	MYC	chr6:133119240-133120592	K562	blood:	n/a	chr6:133119635-133119643 chr6:133119848-133119858 chr6:133119845-133119855 chr6:133119790-133119800
41	CEBPD	chr6:133119377-133120580	K562	blood:	n/a	n/a
42	YY1	chr6:133120108-133120406	GM12878	blood:	n/a	n/a
43	RAD21	chr6:133120065-133120469	ECC-1	luminal epithelium:	n/a	n/a
44	RUNX3	chr6:133119967-133120406	GM12878	blood:	n/a	n/a
45	ZNF384	chr6:133119697-133120371	GM12878	blood:	n/a	n/a
46	E2F4	chr6:133119772-133120327	MCF10A-Er-Src	breast:	n/a	chr6:133119796-133119805
47	ZNF384	chr6:133119138-133120479	K562	blood:	n/a	n/a
48	RCOR1	chr6:133118996-133120608	K562	blood:	n/a	n/a
49	PML	chr6:133119497-133120599	K562	blood:	n/a	n/a
50	EP300	chr6:133119225-133120580	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:133119880..133121448-chr6:133122542..133124062,2	MCF-7	breast:
2	chr6:133084618..133086907-chr6:133118822..133121566,2	K562	blood:
3	chr3:52312335..52312919-chr6:133119372..133120190,2	HCT-116	colon:
4	chr6:133117688..133126502-chr6:133133829..133139054,19	MCF-7	breast:
5	chr6:133118544..133124606-chr6:133132137..133138834,13	MCF-7	breast:
6	chr6:133119275..133120154-chr9:140135256..140136012,2	HCT-116	colon:
7	chr6:132832611..132834291-chr6:133118787..133121672,2	K562	blood:

Variant related genes	Relation type
SLC18B1	TF binding region
ENSG00000164091	Chromatin interaction
ENSG00000271488	Chromatin interaction
ENSG00000200534	Chromatin interaction
ENSG00000221500	Chromatin interaction
ENSG00000206754	Chromatin interaction
ENSG00000079950	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000188229	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11961405	1.00[AMR][1000 genomes]
rs11962050	0.90[AFR][1000 genomes]
rs11962777	0.95[AFR][1000 genomes]
rs11964612	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11966336	1.00[AMR][1000 genomes]
rs11966419	1.00[AMR][1000 genomes]
rs55634221	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55736382	0.95[AFR][1000 genomes]
rs55739774	1.00[AFR][1000 genomes]
rs55757918	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55927079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55937207	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56028410	0.92[AFR][1000 genomes]
rs56078645	0.87[AFR][1000 genomes]
rs56195831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56253921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56272102	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56321429	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56335598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347679	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57507997	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58066256	1.00[AMR][1000 genomes]
rs58267486	1.00[AMR][1000 genomes]
rs58879755	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58969189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58978785	0.92[AFR][1000 genomes]
rs59494178	1.00[AMR][1000 genomes]
rs60308475	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60864827	1.00[AMR][1000 genomes]
rs61019706	1.00[AFR][1000 genomes]
rs61588260	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772946	0.87[AFR][1000 genomes]
rs73772948	1.00[AFR][1000 genomes]
rs73772961	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772965	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772966	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772967	0.84[AFR][1000 genomes]
rs73772969	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772971	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772972	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772973	1.00[AMR][1000 genomes]
rs73772974	1.00[AMR][1000 genomes]
rs73772975	1.00[AMR][1000 genomes]
rs73772978	1.00[AMR][1000 genomes]
rs73772979	1.00[AMR][1000 genomes]
rs73772980	1.00[AMR][1000 genomes]
rs73772981	1.00[AMR][1000 genomes]
rs73772982	1.00[AMR][1000 genomes]
rs73772984	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772985	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772986	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772987	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772990	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772997	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772998	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73773001	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73777004	1.00[AMR][1000 genomes]
rs7743148	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754361	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7754746	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7755395	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7763296	1.00[AMR][1000 genomes]
rs7768374	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7768800	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
3	nsv886676	chr6:133111706-133168582	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr6:133118800-133120200	Active TSS	Primary T cells fromperipheralblood	blood
16	chr6:133118800-133120200	Active TSS	Brain Angular Gyrus	brain
17	chr6:133118800-133120200	Active TSS	Fetal Heart	heart
18	chr6:133118800-133120200	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr6:133118800-133120200	Active TSS	Stomach Smooth Muscle	stomach
20	chr6:133118800-133120200	Active TSS	GM12878-XiMat	blood
21	chr6:133118800-133120200	Active TSS	HUVEC	blood vessel
22	chr6:133118800-133120400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:133118800-133120400	Active TSS	Colon Smooth Muscle	Colon
24	chr6:133118800-133120400	Active TSS	Fetal Intestine Large	intestine
25	chr6:133118800-133120400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:133118800-133120400	Active TSS	Right Atrium	heart
27	chr6:133118800-133120400	Active TSS	A549	lung
28	chr6:133118800-133120400	Active TSS	HMEC	breast
29	chr6:133118800-133120600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr6:133118800-133120600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:133118800-133120600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr6:133118800-133120600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:133118800-133120600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:133118800-133120600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:133118800-133120600	Active TSS	Fetal Kidney	kidney
36	chr6:133118800-133120600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr6:133118800-133120600	Active TSS	Fetal Stomach	stomach
38	chr6:133118800-133120600	Active TSS	Osteobl	bone
39	chr6:133119000-133120200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:133119000-133120200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr6:133119000-133120200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:133119000-133120200	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:133119000-133120200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:133119000-133120200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr6:133119000-133120200	Active TSS	Brain Germinal Matrix	brain
46	chr6:133119000-133120200	Active TSS	Fetal Muscle Leg	muscle
47	chr6:133119000-133120200	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:133119000-133120200	Active TSS	Thymus	Thymus
49	chr6:133119000-133120200	Active TSS	NH-A	brain
50	chr6:133119000-133120200	Active TSS	NHEK	skin

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