Variant report

Variant	rs58566208
Chromosome Location	chr4:54243635-54243636
allele	G/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	chr4:54243530-54243976	HepG2	liver:	n/a	n/a
2	ZNF143	chr4:54243562-54244288	Hela-S3	cervix:	n/a	n/a
3	EP300	chr4:54243461-54243867	GM12878	blood:	n/a	chr4:54243468-54243481
4	ZNF143	chr4:54243531-54243969	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:54243462-54244508	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:54243182-54244282	HepG2	liver:	n/a	n/a
7	REST	chr4:54243425-54243973	PFSK-1	brain:	n/a	n/a
8	CTCF	chr4:54243560-54243710	Caco-2	colon:	n/a	n/a
9	ELF1	chr4:54243555-54244472	GM12878	blood:	n/a	chr4:54243762-54243771
10	TAF1	chr4:54243314-54244162	K562	blood:	n/a	n/a
11	POLR2A	chr4:54243385-54244069	U87	brain:	n/a	n/a
12	REST	chr4:54243446-54243774	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:54243482-54244321	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:54243442-54244044	K562	blood:	n/a	n/a
15	BHLHE40	chr4:54243439-54244370	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:54243526-54244363	MCF-7	breast:	n/a	n/a
17	CREB1	chr4:54243525-54244120	A549	lung:	n/a	n/a
18	MAX	chr4:54243287-54244774	NB4	blood:	n/a	chr4:54243636-54243646
19	MAZ	chr4:54243449-54244177	Hela-S3	cervix:	n/a	chr4:54243636-54243646
20	POLR2A	chr4:54243436-54244437	K562	blood:	n/a	n/a
21	YY1	chr4:54243550-54244185	GM12891	blood:	n/a	chr4:54243997-54244017 chr4:54243999-54244011 chr4:54243638-54243647
22	TAF1	chr4:54243566-54244138	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:54243462-54244417	GM12892	blood:	n/a	n/a
24	RAD21	chr4:54243436-54244447	IMR90	lung:	n/a	n/a
25	POLR2A	chr4:54243441-54244340	K562	blood:	n/a	n/a
26	YY1	chr4:54243495-54244392	K562	blood:	n/a	chr4:54243997-54244017 chr4:54243999-54244011 chr4:54243638-54243647
27	MXI1	chr4:54243504-54244491	HepG2	liver:	n/a	n/a
28	MAZ	chr4:54243356-54244800	IMR90	lung:	n/a	chr4:54243636-54243646
29	RCOR1	chr4:54243004-54244418	K562	blood:	n/a	n/a
30	CBX3	chr4:54243395-54244190	K562	blood:	n/a	n/a
31	POLR2A	chr4:54243465-54244099	K562	blood:	n/a	n/a
32	TBP	chr4:54243302-54244013	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:54243465-54244358	Hela-S3	cervix:	n/a	n/a
34	TAF1	chr4:54243393-54244149	PFSK-1	brain:	n/a	n/a
35	CEBPD	chr4:54243630-54243947	HepG2	liver:	n/a	n/a
36	YY1	chr4:54243552-54244327	ECC-1	luminal epithelium:	n/a	chr4:54243997-54244017 chr4:54243999-54244011 chr4:54243638-54243647
37	REST	chr4:54243393-54244034	A549	lung:	n/a	n/a
38	TCF7L2	chr4:54243590-54244216	PANC-1	pancreas:	n/a	n/a
39	TAF1	chr4:54243405-54244134	H1-neurons	neurons:	n/a	n/a
40	ZMIZ1	chr4:54243450-54244476	K562	blood:	n/a	n/a
41	POLR2A	chr4:54243472-54244527	GM12892	blood:	n/a	n/a
42	ELF1	chr4:54243551-54244088	HepG2	liver:	n/a	chr4:54243762-54243771
43	POLR2A	chr4:54243503-54244360	ECC-1	luminal epithelium:	n/a	n/a
44	FOXM1	chr4:54243376-54244408	GM12878	blood:	n/a	n/a
45	FOXM1	chr4:54243450-54244008	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:54243429-54244396	NB4	blood:	n/a	n/a
47	POLR2A	chr4:54243457-54244498	GM18526	blood:	n/a	n/a
48	TAF1	chr4:54243437-54243733	GM12891	blood:	n/a	n/a
49	E2F6	chr4:54243611-54244465	H1-hESC	embryonic stem cell:	n/a	chr4:54243732-54243741 chr4:54243638-54243647 chr4:54243638-54243650
50	RCOR1	chr4:54243525-54244120	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:54230756..54233682-chr4:54240977..54245711,5	MCF-7	breast:
2	chr4:54242110..54243670-chr4:54261563..54263151,2	K562	blood:
3	chr16:85833174..85833794-chr4:54243251..54244239,2	Hela-S3	cervix:

Variant related genes	Relation type
FIP1L1	TF binding region
ENSG00000131143	Chromatin interaction
ENSG00000131148	Chromatin interaction
ENSG00000184178	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10005221	0.82[EUR][1000 genomes]
rs10006090	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011631	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012682	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10012857	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014172	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10019914	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10021659	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022429	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10022604	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10023613	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10024153	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10024702	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10025091	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10027090	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10028131	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10034035	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10517295	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12642401	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12644212	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12645252	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12645287	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649258	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12649335	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435297	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13435378	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1383982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1473911	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1481816	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs15834	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17082681	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17082726	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17082741	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17082744	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082811	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17082837	0.89[ASN][1000 genomes]
rs17082847	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17326196	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17839071	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054589	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054590	1.00[ASN][1000 genomes]
rs2054591	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2137895	0.89[ASN][1000 genomes]
rs2175906	0.89[ASN][1000 genomes]
rs2412487	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28396593	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28403386	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28414224	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28416355	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417191	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418269	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28454103	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28459811	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460231	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28506190	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28538880	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28555544	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28575132	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588270	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28633646	0.88[ASN][1000 genomes]
rs28647402	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28654213	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28658460	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729231	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28778298	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28778963	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28831138	0.88[AMR][1000 genomes]
rs28835433	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28848852	0.95[ASN][1000 genomes]
rs3762877	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762878	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762879	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56345181	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56997859	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57090564	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57165925	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57587034	0.83[AMR][1000 genomes]
rs57616867	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57717970	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59213600	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59311047	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60072918	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62323221	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323222	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323223	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62325171	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62325218	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62325968	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62325970	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816889	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73154934	0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs73154945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73156086	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9312640	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995110	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9996049	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9996299	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9997905	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54243000-54243800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:54243000-54244800	Active TSS	Fetal Lung	lung
3	chr4:54243000-54244800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr4:54243000-54245000	Active TSS	Brain Cingulate Gyrus	brain
5	chr4:54243000-54247800	Active TSS	GM12878-XiMat	blood
6	chr4:54243200-54244000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:54243200-54244600	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:54243200-54244600	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr4:54243200-54244800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:54243200-54244800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:54243200-54244800	Active TSS	Fetal Muscle Trunk	muscle
12	chr4:54243200-54244800	Active TSS	NHEK	skin
13	chr4:54243200-54245000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:54243200-54245200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:54243200-54245200	Active TSS	Fetal Intestine Small	intestine
16	chr4:54243200-54245200	Active TSS	Fetal Stomach	stomach
17	chr4:54243200-54245400	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:54243200-54245400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:54243200-54245400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:54243200-54245400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr4:54243200-54245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:54243200-54245400	Active TSS	Psoas Muscle	Psoas
23	chr4:54243200-54245400	Active TSS	Right Ventricle	heart
24	chr4:54243200-54245600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:54243200-54245800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:54243200-54246000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:54243200-54246200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:54243200-54246200	Active TSS	Ovary	ovary
29	chr4:54243200-54246200	Active TSS	Thymus	Thymus
30	chr4:54243200-54246400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:54243400-54243800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:54243400-54243800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:54243400-54243800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:54243400-54243800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr4:54243400-54244000	Active TSS	HepG2	liver
36	chr4:54243400-54244400	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr4:54243400-54244400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr4:54243400-54244400	Active TSS	Placenta Amnion	Placenta Amnion
39	chr4:54243400-54244400	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr4:54243400-54244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:54243400-54244600	Active TSS	Liver	Liver
42	chr4:54243400-54244600	Active TSS	Brain Angular Gyrus	brain
43	chr4:54243400-54244600	Active TSS	Brain Substantia Nigra	brain
44	chr4:54243400-54244600	Active TSS	Colon Smooth Muscle	Colon
45	chr4:54243400-54244600	Active TSS	Duodenum Mucosa	Duodenum
46	chr4:54243400-54244600	Active TSS	Fetal Brain Female	brain
47	chr4:54243400-54244600	Active TSS	Small Intestine	intestine
48	chr4:54243400-54244800	Active TSS	Primary B cells from peripheral blood	blood
49	chr4:54243400-54244800	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr4:54243400-54244800	Active TSS	Brain Anterior Caudate	brain

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