Variant report

Variant	rs28372688
Chromosome Location	chr5:154320596-154320597
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	chr5:154320291-154321283	HepG2	liver:	n/a	n/a
2	MYBL2	chr5:154320302-154320904	HepG2	liver:	n/a	n/a
3	REST	chr5:154320451-154320808	SK-N-SH	brain:	n/a	n/a
4	PML	chr5:154320302-154320955	MCF-7	breast:	n/a	n/a
5	MAX	chr5:154320231-154320738	A549	lung:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
6	MAX	chr5:154320352-154320924	HepG2	liver:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
7	YY1	chr5:154320397-154321074	K562	blood:	n/a	chr5:154320666-154320678
8	POLR2A	chr5:154320317-154321031	K562	blood:	n/a	n/a
9	MAX	chr5:154320269-154320890	ECC-1	luminal epithelium:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
10	MAZ	chr5:154320359-154321340	K562	blood:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
11	GTF2F1	chr5:154320446-154320985	K562	blood:	n/a	n/a
12	NRF1	chr5:154320194-154321243	SK-N-SH	brain:	n/a	chr5:154320608-154320619 chr5:154320520-154320534 chr5:154320605-154320619 chr5:154320608-154320622 chr5:154320607-154320618 chr5:154320608-154320617
13	POLR2A	chr5:154320229-154320969	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:154320317-154321168	GM19099	blood:	n/a	n/a
15	REST	chr5:154320398-154320741	SK-N-SH	brain:	n/a	n/a
16	BHLHE40	chr5:154320330-154320864	GM12878	blood:	n/a	n/a
17	FOS	chr5:154320484-154320807	MCF10A-Er-Src	breast:	n/a	n/a
18	MAX	chr5:154320197-154320903	ECC-1	luminal epithelium:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
19	TAF1	chr5:154320421-154321003	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:154320145-154321078	U87	brain:	n/a	n/a
21	ELK1	chr5:154320416-154320975	Hela-S3	cervix:	n/a	n/a
22	TBP	chr5:154320244-154321460	Hela-S3	cervix:	n/a	n/a
23	ZKSCAN1	chr5:154320410-154321118	Hela-S3	cervix:	n/a	n/a
24	HEY1	chr5:154320251-154320968	HepG2	liver:	n/a	n/a
25	ELF1	chr5:154320411-154320892	A549	lung:	n/a	n/a
26	EP300	chr5:154320466-154321331	GM12878	blood:	n/a	n/a
27	TAF1	chr5:154320395-154320927	GM12892	blood:	n/a	n/a
28	TBL1XR1	chr5:154320323-154320902	K562	blood:	n/a	n/a
29	GTF2F1	chr5:154320276-154321313	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:154320043-154321010	GM19193	blood:	n/a	n/a
31	POLR2A	chr5:154320339-154320899	K562	blood:	n/a	n/a
32	POLR2A	chr5:154320244-154320977	GM12878	blood:	n/a	n/a
33	MAX	chr5:154320339-154320965	SK-N-SH	brain:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
34	RCOR1	chr5:154320397-154321327	K562	blood:	n/a	n/a
35	STAT3	chr5:154320320-154320703	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr5:154320211-154321015	K562	blood:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
37	EBF1	chr5:154320355-154320799	GM12878	blood:	n/a	n/a
38	MAX	chr5:154320345-154320902	Hela-S3	cervix:	n/a	chr5:154320454-154320465 chr5:154320456-154320463 chr5:154320453-154320468 chr5:154320454-154320464 chr5:154320455-154320464
39	TAF1	chr5:154320463-154320849	PFSK-1	brain:	n/a	n/a
40	SIN3A	chr5:154320457-154321338	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:154320186-154321422	SK-N-MC	brain:	n/a	n/a
42	CCNT2	chr5:154320417-154320818	K562	blood:	n/a	n/a
43	POLR2A	chr5:154320204-154321024	HUVEC	blood vessel:	n/a	n/a
44	YY1	chr5:154320393-154320911	K562	blood:	n/a	chr5:154320666-154320678
45	PML	chr5:154320158-154321170	GM12878	blood:	n/a	n/a
46	WRNIP1	chr5:154320435-154321356	GM12878	blood:	n/a	n/a
47	GABPA	chr5:154320424-154320738	A549	lung:	n/a	chr5:154320608-154320619 chr5:154320520-154320534 chr5:154320605-154320619 chr5:154320608-154320622 chr5:154320608-154320617
48	ZNF143	chr5:154320480-154320785	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr5:154320360-154320681	K562	blood:	n/a	chr5:154320609-154320618
50	TEAD4	chr5:154320460-154320920	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:154320551-154320601	HUVEC	blood vessel:	n/a
2	chr5:154320551-154320601	GM12891	blood:	n/a
3	chr5:154320551-154320601	BJ	skin:	n/a
4	chr5:154320551-154320601	AG10803	skin:	n/a
5	chr5:154320551-154320601	ovcar-3	ovarian:	n/a
6	chr5:154320551-154320601	AG04450	lung:	fetal
7	chr5:154320551-154320601	SK-N-SH	brain:	n/a
8	chr5:154320551-154320601	NHDF-neo	bronchial:	n/a
9	chr5:154320551-154320601	RPTEC	kidney:	n/a
10	chr5:154320551-154320601	SKMC	muscle:	n/a
11	chr5:154320551-154320601	HCF	heart:	n/a
12	chr5:154320551-154320601	HEEpiC	esophagus:	n/a
13	chr5:154320551-154320601	BE2_C	brain:	n/a
14	chr5:154320551-154320601	HAEpiC	amniotic membrane:	n/a
15	chr5:154320551-154320601	NB4	blood:	n/a
16	chr5:154320551-154320601	AoSMC	blood vessel:	n/a
17	chr5:154320551-154320601	LNCaP	prostate:	n/a
18	chr5:154320551-154320601	PANC-1	pancreas:	n/a
19	chr5:154320551-154320601	HRPEpiC	eye:	n/a
20	chr5:154320551-154320601	CMK	blood:	n/a
21	chr5:154320551-154320601	HL-60	blood:	n/a
22	chr5:154320551-154320601	PFSK-1	brain:	n/a
23	chr5:154320551-154320601	H1-hESC	embryonic stem cell:	embryo
24	chr5:154320551-154320601	AG04449	skin:	fetal
25	chr5:154320551-154320601	HCPEpiC	choroid plexus:	n/a
26	chr5:154320551-154320601	PrEC	prostate:	n/a
27	chr5:154320551-154320601	NT2-D1	testis:	n/a
28	chr5:154320551-154320601	SK-N-MC	brain:	n/a
29	chr5:154320551-154320601	NH-A	brain:	n/a
30	chr5:154320551-154320601	U87	brain:	n/a
31	chr5:154320551-154320601	K562	blood:	n/a
32	chr5:154320551-154320601	SK-N-SH_RA	brain:	n/a
33	chr5:154320551-154320601	HCM	heart:	n/a
34	chr5:154320551-154320601	IMR90	lung:	fetal
35	chr5:154320551-154320601	GM19239	blood:	n/a
36	chr5:154320551-154320601	AG09309	skin:	n/a
37	chr5:154320551-154320601	GM12892	blood:	n/a
38	chr5:154320551-154320601	Hela-S3	cervix:	n/a
39	chr5:154320551-154320601	AG09319	gingival:	n/a
40	chr5:154320551-154320601	HEK293	kidney:	embryo
41	chr5:154320551-154320601	HCT-116	colon:	n/a
42	chr5:154320551-154320601	NHBE	bronchial:	n/a
43	chr5:154320551-154320601	ProgFib	skin:	n/a
44	chr5:154320551-154320601	ECC-1	luminal epithelium:	n/a
45	chr5:154320551-154320601	Jurkat	blood:	n/a
46	chr5:154320551-154320601	HRCEpiC	kidney:	n/a
47	chr5:154320551-154320601	HepG2	liver:	n/a
48	chr5:154320551-154320601	HRE	kidney:	n/a
49	chr5:154320551-154320601	HIPEpiC	eye:	n/a
50	chr5:154320551-154320601	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:154235585..154240256-chr5:154317008..154321464,8	K562	blood:
2	chr5:154235909..154239670-chr5:154316883..154321797,7	K562	blood:
3	chr5:154229420..154232188-chr5:154319617..154321370,2	K562	blood:
4	chr5:154210790..154212460-chr5:154320495..154322625,2	MCF-7	breast:
5	chr1:244615087..244616009-chr5:154320135..154320878,2	NB4	blood:
6	chr5:154314869..154319173-chr5:154319212..154322644,7	K562	blood:
7	chr5:154236188..154239312-chr5:154315571..154321975,7	MCF-7	breast:

Variant related genes	Relation type
MRPL22	TF binding region
GEMIN5	TF binding region
MRPL22	CpG island
GEMIN5	CpG island
ENSG00000170271	Chromatin interaction
ENSG00000155508	Chromatin interaction
ENSG00000035687	Chromatin interaction
ENSG00000082516	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10515727	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12186480	1.00[ASN][1000 genomes]
rs12187572	0.93[ASN][1000 genomes]
rs12187890	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12187934	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12187974	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12188149	1.00[ASN][1000 genomes]
rs12188498	0.86[ASN][1000 genomes]
rs12188906	0.86[ASN][1000 genomes]
rs1421813	1.00[ASN][1000 genomes]
rs1421814	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421815	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1421819	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs14922	0.83[ASN][1000 genomes]
rs17096232	0.86[ASN][1000 genomes]
rs17116417	0.86[ASN][1000 genomes]
rs17116455	0.86[ASN][1000 genomes]
rs17116489	0.86[ASN][1000 genomes]
rs17116638	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17116669	0.96[ASN][1000 genomes]
rs2291780	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3776984	0.93[ASN][1000 genomes]
rs55692274	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56773390	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56895891	1.00[ASN][1000 genomes]
rs61145644	0.96[ASN][1000 genomes]
rs6580123	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6865950	0.96[ASN][1000 genomes]
rs6871813	0.96[ASN][1000 genomes]
rs6895588	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6895702	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73806917	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73807206	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73807207	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73807213	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73807216	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73809507	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7709899	0.96[ASN][1000 genomes]
rs7716019	0.86[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	chr5:154318000-154320600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:154318200-154320600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:154319600-154320600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:154320000-154320600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr5:154320000-154320600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:154320000-154320600	Flanking Active TSS	Dnd41	blood
7	chr5:154320000-154321200	Active TSS	Brain Anterior Caudate	brain
8	chr5:154320000-154321200	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:154320000-154321400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr5:154320000-154321600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr5:154320000-154321600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:154320000-154321800	Active TSS	Fetal Brain Female	brain
13	chr5:154320000-154322200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:154320000-154322200	Active TSS	Right Atrium	heart
15	chr5:154320200-154320600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:154320200-154320600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:154320200-154320600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr5:154320200-154320600	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr5:154320200-154320600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr5:154320200-154320600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr5:154320200-154320600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr5:154320200-154320600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr5:154320200-154320600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:154320200-154320600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:154320200-154320600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr5:154320200-154320600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:154320200-154320600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:154320200-154320600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:154320200-154320600	Flanking Active TSS	Fetal Thymus	thymus
30	chr5:154320200-154320600	Enhancers	Spleen	Spleen
31	chr5:154320200-154320600	Flanking Active TSS	HepG2	liver
32	chr5:154320200-154320600	Flanking Active TSS	HMEC	breast
33	chr5:154320200-154320600	Flanking Active TSS	HSMMtube	muscle
34	chr5:154320200-154320600	Flanking Active TSS	HUVEC	blood vessel
35	chr5:154320200-154320600	Flanking Active TSS	K562	blood
36	chr5:154320200-154320600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr5:154320200-154320600	Flanking Active TSS	NHEK	skin
38	chr5:154320200-154321200	Active TSS	Brain Angular Gyrus	brain
39	chr5:154320200-154321200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:154320200-154321200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:154320200-154321200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr5:154320200-154321200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:154320200-154321400	Active TSS	Colonic Mucosa	Colon
44	chr5:154320200-154321400	ZNF genes & repeats	Fetal Brain Male	brain
45	chr5:154320200-154321400	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:154320200-154321400	Active TSS	Left Ventricle	heart
47	chr5:154320200-154321600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:154320200-154321600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr5:154320200-154321600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr5:154320200-154321600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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