Variant report

Variant	rs11953528
Chromosome Location	chr5:151152406-151152407
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	POLR2A	chr5:151150059-151152517	NB4	blood:	n/a	n/a
2	SMARCB1	chr5:151149958-151152619	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr5:151151854-151152660	U87	brain:	n/a	n/a
4	POLR2A	chr5:151150162-151152760	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:151151273-151152736	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr5:151149886-151152833	HL-60	blood:	n/a	n/a
7	HEY1	chr5:151150086-151153051	K562	blood:	n/a	chr5:151150092-151150107 chr5:151151682-151151697
8	TFAP2A	chr5:151149990-151152551	Hela-S3	cervix:	n/a	chr5:151150971-151150983 chr5:151150971-151150983 chr5:151150113-151150124 chr5:151150945-151150955 chr5:151150064-151150074 chr5:151152393-151152404 chr5:151150626-151150637 chr5:151150987-151151002 chr5:151150971-151150983 chr5:151150713-151150724 chr5:151150945-151150955 chr5:151150971-151150983 chr5:151150988-151150999 chr5:151150945-151150955 chr5:151150113-151150124 chr5:151150713-151150725 chr5:151152393-151152404
9	POLR2A	chr5:151151219-151153028	GM12891	blood:	n/a	n/a
10	POLR2A	chr5:151149699-151152902	GM19099	blood:	n/a	n/a
11	TBL1XR1	chr5:151150121-151152436	K562	blood:	n/a	n/a
12	POLR2A	chr5:151151268-151152576	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr5:151150471-151152435	MCF-7	breast:	n/a	n/a
14	SIN3AK20	chr5:151150559-151152901	MCF-7	breast:	n/a	n/a
15	CHD2	chr5:151150231-151152572	GM12878	blood:	n/a	n/a
16	BHLHE40	chr5:151149969-151152512	K562	blood:	n/a	chr5:151151678-151151694 chr5:151151868-151151884 chr5:151150090-151150106
17	RELA	chr5:151150127-151152999	GM12891	blood:	n/a	chr5:151152670-151152679 chr5:151152670-151152679
18	FOXM1	chr5:151150237-151152693	GM12878	blood:	n/a	n/a
19	WRNIP1	chr5:151151946-151153029	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:151150797-151153116	HepG2	liver:	n/a	n/a
21	EBF1	chr5:151152101-151152922	GM12878	blood:	n/a	chr5:151152376-151152387
22	POLR2A	chr5:151149843-151153078	GM12892	blood:	n/a	n/a
23	HMGN3	chr5:151149997-151152461	K562	blood:	n/a	n/a
24	RELA	chr5:151150062-151152821	GM18951	blood:	n/a	chr5:151152670-151152679 chr5:151152670-151152679
25	MAX	chr5:151150184-151152500	HCT-116	colon:	n/a	chr5:151151801-151151810 chr5:151151946-151151955 chr5:151151610-151151620 chr5:151151818-151151827
26	POLR2A	chr5:151149923-151152694	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:151150098-151153044	HL-60	blood:	n/a	n/a
28	CHD1	chr5:151151941-151153142	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:151149961-151153058	IMR90	lung:	n/a	n/a
30	RELA	chr5:151149948-151153037	GM15510	blood:	n/a	chr5:151152670-151152679 chr5:151152670-151152679
31	IRF1	chr5:151150205-151153107	K562	blood:	n/a	chr5:151151609-151151623 chr5:151151221-151151230
32	POLR2A	chr5:151149638-151153076	GM12878	blood:	n/a	n/a
33	MYC	chr5:151150216-151152462	K562	blood:	n/a	chr5:151151801-151151810 chr5:151151946-151151955 chr5:151151610-151151620 chr5:151151818-151151827
34	POLR2A	chr5:151150234-151152615	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr5:151152066-151152567	PANC-1	pancreas:	n/a	n/a
36	SIN3A	chr5:151150051-151153099	H1-hESC	embryonic stem cell:	n/a	chr5:151151546-151151560 chr5:151151582-151151593 chr5:151150643-151150652
37	POLR2A	chr5:151149676-151152634	K562	blood:	n/a	n/a
38	POLR2A	chr5:151151212-151152520	K562	blood:	n/a	n/a
39	MAX	chr5:151152318-151152470	K562	blood:	n/a	n/a
40	SIN3A	chr5:151150173-151152485	GM12878	blood:	n/a	chr5:151151546-151151560 chr5:151151582-151151593 chr5:151150643-151150652
41	MAX	chr5:151150121-151152567	ECC-1	luminal epithelium:	n/a	chr5:151151801-151151810 chr5:151151946-151151955 chr5:151151610-151151620 chr5:151151818-151151827
42	ZNF143	chr5:151150453-151152844	GM12878	blood:	n/a	chr5:151150642-151150652 chr5:151150721-151150731
43	POLR2A	chr5:151149887-151152719	GM12891	blood:	n/a	n/a
44	POLR2A	chr5:151151326-151152680	GM12891	blood:	n/a	n/a
45	POLR2A	chr5:151150161-151152997	K562	blood:	n/a	n/a
46	POLR2A	chr5:151151283-151152996	HUVEC	blood vessel:	n/a	n/a
47	E2F4	chr5:151149978-151152703	K562	blood:	n/a	chr5:151151923-151151935 chr5:151151924-151151931 chr5:151151924-151151931 chr5:151151924-151151931 chr5:151152645-151152654 chr5:151151923-151151932
48	MAX	chr5:151149841-151152714	A549	lung:	n/a	chr5:151151801-151151810 chr5:151151946-151151955 chr5:151151610-151151620 chr5:151151818-151151827
49	GTF2F1	chr5:151152040-151153107	Hela-S3	cervix:	n/a	n/a
50	ELK1	chr5:151152341-151152575	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:151141912..151146351-chr5:151146659..151152863,9	MCF-7	breast:
2	chr5:151064445..151066253-chr5:151150599..151153254,2	MCF-7	breast:
3	chr5:151133870..151141079-chr5:151148554..151154544,14	MCF-7	breast:
4	chr5:151136180..151141661-chr5:151146894..151154161,25	MCF-7	breast:

Variant related genes	Relation type
ATOX1	TF binding region
ENSG00000113140	Chromatin interaction
ENSG00000213433	Chromatin interaction
ENSG00000177556	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10036616	0.95[EUR][1000 genomes]
rs10058885	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10059511	0.97[EUR][1000 genomes]
rs10062143	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10064300	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074267	0.97[EUR][1000 genomes]
rs10074385	0.97[EUR][1000 genomes]
rs10074443	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075210	0.97[EUR][1000 genomes]
rs10477000	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954396	0.86[EUR][1000 genomes]
rs11956353	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958614	0.84[EUR][1000 genomes]
rs12332554	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445353	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28917168	0.93[EUR][1000 genomes]
rs28917174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28917193	0.93[EUR][1000 genomes]
rs3209060	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812003	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812004	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57723600	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876258	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881068	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898736	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73281646	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356721	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7726718	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7731472	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151149000-151153200	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:151149600-151152800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:151149600-151152800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:151149600-151153000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:151149600-151153600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:151149600-151153600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr5:151149600-151153600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:151149600-151153600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:151149600-151154400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr5:151149600-151155000	Active TSS	Psoas Muscle	Psoas
11	chr5:151149800-151152600	Active TSS	K562	blood
12	chr5:151149800-151152800	Active TSS	Brain Substantia Nigra	brain
13	chr5:151149800-151152800	Active TSS	Fetal Brain Female	brain
14	chr5:151149800-151153000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr5:151149800-151153000	Active TSS	Colon Smooth Muscle	Colon
16	chr5:151149800-151153000	Active TSS	Esophagus	oesophagus
17	chr5:151149800-151153000	Active TSS	Left Ventricle	heart
18	chr5:151149800-151153000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr5:151149800-151153000	Active TSS	Small Intestine	intestine
20	chr5:151149800-151153200	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:151149800-151153200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr5:151149800-151153400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:151149800-151153400	Active TSS	Brain Angular Gyrus	brain
24	chr5:151149800-151153400	Active TSS	Fetal Intestine Large	intestine
25	chr5:151149800-151153600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:151149800-151154000	Active TSS	Brain Germinal Matrix	brain
27	chr5:151149800-151154400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr5:151149800-151154400	Active TSS	Hela-S3	cervix
29	chr5:151149800-151154400	Active TSS	NHLF	lung
30	chr5:151149800-151154800	Active TSS	Right Ventricle	heart
31	chr5:151149800-151155000	Active TSS	Aorta	Aorta
32	chr5:151150000-151152800	Active TSS	Brain Anterior Caudate	brain
33	chr5:151150000-151152800	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr5:151150000-151153000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:151150000-151153000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:151150000-151153000	Active TSS	Gastric	stomach
37	chr5:151150000-151153000	Active TSS	Lung	lung
38	chr5:151150000-151153200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:151150000-151153200	Active TSS	Duodenum Mucosa	Duodenum
40	chr5:151150000-151153400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:151150000-151153400	Active TSS	Fetal Stomach	stomach
42	chr5:151150000-151153600	Active TSS	Ovary	ovary
43	chr5:151150000-151154000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:151150000-151154400	Active TSS	Fetal Kidney	kidney
45	chr5:151150000-151154400	Active TSS	GM12878-XiMat	blood
46	chr5:151150200-151152800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:151150200-151152800	Active TSS	Fetal Lung	lung
48	chr5:151150200-151152800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr5:151150200-151153000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr5:151150200-151153000	Active TSS	Pancreas	Pancrea

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