Variant report

Variant	rs17082659
Chromosome Location	chr4:54243585-54243586
allele	A/G
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	YY1	chr4:54243552-54244327	ECC-1	luminal epithelium:	n/a	chr4:54243997-54244017 chr4:54243999-54244011 chr4:54243638-54243647
36	REST	chr4:54243393-54244034	A549	lung:	n/a	n/a
37	TAF1	chr4:54243405-54244134	H1-neurons	neurons:	n/a	n/a
38	ZMIZ1	chr4:54243450-54244476	K562	blood:	n/a	n/a
39	POLR2A	chr4:54243472-54244527	GM12892	blood:	n/a	n/a
40	ELF1	chr4:54243551-54244088	HepG2	liver:	n/a	chr4:54243762-54243771
41	POLR2A	chr4:54243503-54244360	ECC-1	luminal epithelium:	n/a	n/a
42	FOXM1	chr4:54243376-54244408	GM12878	blood:	n/a	n/a
43	FOXM1	chr4:54243450-54244008	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:54243429-54244396	NB4	blood:	n/a	n/a
45	POLR2A	chr4:54243457-54244498	GM18526	blood:	n/a	n/a
46	TAF1	chr4:54243437-54243733	GM12891	blood:	n/a	n/a
47	RCOR1	chr4:54243525-54244120	K562	blood:	n/a	n/a
48	POLR2A	chr4:54243434-54244313	Hela-S3	cervix:	n/a	n/a
49	NRF1	chr4:54243409-54243970	Hela-S3	cervix:	n/a	chr4:54243731-54243740 chr4:54243728-54243742 chr4:54243638-54243647 chr4:54243731-54243745 chr4:54243806-54243817 chr4:54243731-54243742
50	MAX	chr4:54243417-54244523	SK-N-SH	brain:	n/a	chr4:54243636-54243646

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
ENSG00000131148	Chromatin interaction
ENSG00000184178	Chromatin interaction
ENSG00000131143	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10012853	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013573	0.88[ASN][1000 genomes]
rs10028214	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1014056	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10517296	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133267	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935822	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11942086	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11946199	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499401	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12501431	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12507723	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13120051	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13125807	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13130836	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351514	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17082910	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2128103	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2170421	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2271555	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271557	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2292579	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34028346	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34173240	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34317954	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033239	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35089532	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35225781	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35313782	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36090882	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3817270	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3946758	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3986364	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6420001	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554095	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554096	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554102	0.87[ASN][1000 genomes]
rs6554103	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554108	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6846569	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6847289	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71597836	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678953	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7679743	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7684450	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7684894	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7694840	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980988	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997832	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992820	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9997358	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9997844	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54241400-54243600	Weak transcription	Gastric	stomach
2	chr4:54243000-54243600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr4:54243000-54243600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:54243000-54243600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr4:54243000-54243600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr4:54243000-54243800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:54243000-54244800	Active TSS	Fetal Lung	lung
8	chr4:54243000-54244800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr4:54243000-54245000	Active TSS	Brain Cingulate Gyrus	brain
10	chr4:54243000-54247800	Active TSS	GM12878-XiMat	blood
11	chr4:54243200-54243600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:54243200-54243600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:54243200-54243600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr4:54243200-54243600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:54243200-54243600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:54243200-54243600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:54243200-54243600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr4:54243200-54243600	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr4:54243200-54243600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr4:54243200-54243600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr4:54243200-54243600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:54243200-54243600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr4:54243200-54243600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr4:54243200-54243600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:54243200-54243600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr4:54243200-54243600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr4:54243200-54243600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr4:54243200-54243600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:54243200-54243600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:54243200-54243600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:54243200-54243600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr4:54243200-54243600	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr4:54243200-54243600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr4:54243200-54243600	Flanking Active TSS	Fetal Heart	heart
35	chr4:54243200-54243600	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr4:54243200-54243600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr4:54243200-54243600	Active TSS	Right Atrium	heart
38	chr4:54243200-54243600	Flanking Active TSS	Stomach Mucosa	stomach
39	chr4:54243200-54243600	Enhancers	Spleen	Spleen
40	chr4:54243200-54243600	Flanking Active TSS	Dnd41	blood
41	chr4:54243200-54243600	Flanking Active TSS	HMEC	breast
42	chr4:54243200-54243600	Flanking Active TSS	HSMMtube	muscle
43	chr4:54243200-54243600	Flanking Active TSS	HUVEC	blood vessel
44	chr4:54243200-54243600	Flanking Active TSS	NH-A	brain
45	chr4:54243200-54243600	Flanking Active TSS	NHLF	lung
46	chr4:54243200-54243600	Flanking Active TSS	Osteobl	bone
47	chr4:54243200-54244000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:54243200-54244600	Active TSS	Rectal Smooth Muscle	rectum
49	chr4:54243200-54244600	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr4:54243200-54244800	Active TSS	HUES64 Cell Line	embryonic stem cell

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