Variant report

Variant	rs13014752
Chromosome Location	chr2:55460920-55460921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55458744-55464800	K562	blood:	n/a	n/a
2	POLR2A	chr2:55458967-55461056	K562	blood:	n/a	n/a
3	POLR2A	chr2:55458959-55464692	GM12878	blood:	n/a	n/a
4	HEY1	chr2:55459065-55461114	K562	blood:	n/a	n/a
5	POLR2A	chr2:55458747-55464848	U87	brain:	n/a	n/a
6	MTA3	chr2:55458589-55461547	GM12878	blood:	n/a	n/a
7	POLR2A	chr2:55458731-55465585	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:55459010-55461927	HUVEC	blood vessel:	n/a	n/a
9	MAX	chr2:55458583-55460929	A549	lung:	n/a	n/a
10	POLR2A	chr2:55458589-55462559	HCT-116	colon:	n/a	n/a
11	POLR2A	chr2:55458627-55465420	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:55460860-55461381	U87	brain:	n/a	n/a
13	POLR2A	chr2:55458643-55463921	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr2:55458760-55464736	HepG2	liver:	n/a	n/a
15	MBD4	chr2:55458795-55461839	HepG2	liver:	n/a	n/a
16	WRNIP1	chr2:55458788-55461008	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:55459250-55461397	GM12892	blood:	n/a	n/a
18	POLR2A	chr2:55458851-55461187	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:55459164-55464717	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:55458775-55464779	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:55458888-55461256	K562	blood:	n/a	n/a
22	POLR2A	chr2:55458974-55464629	K562	blood:	n/a	n/a
23	POLR2A	chr2:55458908-55461808	K562	blood:	n/a	n/a
24	POLR2A	chr2:55460485-55460979	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr2:55458800-55464614	K562	blood:	n/a	n/a
26	PML	chr2:55458701-55461227	GM12878	blood:	n/a	n/a
27	MXI1	chr2:55458504-55461434	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:55458988-55464662	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:55459240-55461310	HUVEC	blood vessel:	n/a	n/a
30	MAX	chr2:55458946-55460920	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:55458788-55461332	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr2:55458865-55461063	NB4	blood:	n/a	n/a
33	POLR2A	chr2:55460567-55460932	A549	lung:	n/a	n/a
34	POLR2A	chr2:55458983-55461222	PBDE	blood:	n/a	n/a
35	POLR2A	chr2:55458860-55465354	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr2:55458989-55464724	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr2:55458966-55464603	GM12892	blood:	n/a	n/a
38	POLR2A	chr2:55459108-55461333	GM12891	blood:	n/a	n/a
39	POLR2A	chr2:55460894-55461689	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:55459024-55464715	GM18505	blood:	n/a	n/a
41	POLR2A	chr2:55459104-55461550	SK-N-SH	brain:	n/a	n/a
42	ZNF263	chr2:55459016-55461900	HEK293-T-REx	kidney:	n/a	n/a
43	POLR2A	chr2:55459015-55461024	GM19193	blood:	n/a	n/a
44	POLR2A	chr2:55458733-55465490	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr2:55458865-55465521	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:55460323-55464639	A549	lung:	n/a	n/a
47	POLR2A	chr2:55458817-55464677	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:55460890-55460921	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:55458685-55467019	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:55459009-55464639	GM12892	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55458112..55461105-chr2:55507986..55510921,3	MCF-7	breast:
2	chr2:55459243..55461012-chr2:55645151..55647509,2	MCF-7	breast:
3	chr2:55275304..55279887-chr2:55458370..55461390,5	K562	blood:
4	chr1:109618339..109619263-chr2:55460673..55461600,2	Hela-S3	cervix:
5	chr2:55459912..55461600-chr2:55842449..55844888,2	K562	blood:
6	chr2:55458256..55462359-chr2:55494864..55497801,3	K562	blood:
7	chr2:55458256..55461079-chr2:55494634..55496499,3	K562	blood:
8	chr2:55458277..55462347-chr2:55843080..55846218,4	K562	blood:
9	chr2:55458156..55461118-chr2:55494163..55499368,6	MCF-7	breast:
10	chr17:57919487..57921628-chr2:55460501..55462131,2	MCF-7	breast:
11	chr2:55457538..55465596-chr2:55493335..55497971,13	MCF-7	breast:

No data

Variant related genes	Relation type
CLHC1	TF binding region
ENSG00000085760	Chromatin interaction
ENSG00000197780	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000162997	Chromatin interaction
ENSG00000115355	Chromatin interaction
ENSG00000272606	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1134722	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11686766	0.84[EUR][1000 genomes]
rs11686912	0.84[EUR][1000 genomes]
rs11687876	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12989854	0.84[EUR][1000 genomes]
rs12995548	0.92[EUR][1000 genomes]
rs13000786	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003020	0.95[EUR][1000 genomes]
rs13012567	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13017468	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13032294	0.81[EUR][1000 genomes]
rs2028139	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34447956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35141050	0.84[EUR][1000 genomes]
rs35183885	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35227659	0.84[EUR][1000 genomes]
rs35700883	0.84[EUR][1000 genomes]
rs36121000	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4318424	0.84[EUR][1000 genomes]
rs6742306	0.92[EUR][1000 genomes]
rs6743339	0.87[EUR][1000 genomes]
rs6747466	0.92[EUR][1000 genomes]
rs71414544	0.84[EUR][1000 genomes]
rs71414545	0.84[EUR][1000 genomes]
rs71414546	0.84[EUR][1000 genomes]
rs71414547	0.84[EUR][1000 genomes]
rs71414548	0.84[EUR][1000 genomes]
rs71414549	0.82[EUR][1000 genomes]
rs71414556	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71414557	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55458400-55461400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:55458600-55461200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:55458600-55461200	Active TSS	HSMMtube	muscle
4	chr2:55458600-55462200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:55458800-55461000	Active TSS	Esophagus	oesophagus
6	chr2:55458800-55461000	Bivalent/Poised TSS	HepG2	liver
7	chr2:55458800-55461000	Active TSS	NHDF-Ad	bronchial
8	chr2:55458800-55461400	Active TSS	Psoas Muscle	Psoas
9	chr2:55459000-55461200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
10	chr2:55459200-55461600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:55459800-55461800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
12	chr2:55459800-55462000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr2:55460000-55461000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:55460000-55461000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr2:55460000-55461000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:55460000-55462400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
17	chr2:55460000-55463000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr2:55460000-55463400	Transcr. at gene 5' and 3'	K562	blood
19	chr2:55460200-55461000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr2:55460200-55461200	Transcr. at gene 5' and 3'	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:55460200-55461400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr2:55460200-55462000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
23	chr2:55460200-55462200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:55460200-55462600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
25	chr2:55460200-55463000	Transcr. at gene 5' and 3'	A549	lung
26	chr2:55460400-55461000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
27	chr2:55460400-55461000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:55460400-55461000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:55460400-55461000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:55460400-55461000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr2:55460400-55461000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:55460400-55461000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr2:55460400-55461000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr2:55460400-55461000	Flanking Active TSS	Colonic Mucosa	Colon
35	chr2:55460400-55461000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
36	chr2:55460400-55461000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr2:55460400-55461200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:55460400-55461200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr2:55460400-55461400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:55460400-55461400	Flanking Active TSS	Fetal Heart	heart
41	chr2:55460400-55461600	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:55460400-55461800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
43	chr2:55460400-55461800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:55460400-55461800	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:55460400-55461800	Transcr. at gene 5' and 3'	NHEK	skin
46	chr2:55460400-55462000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
47	chr2:55460400-55462000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:55460400-55462400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
49	chr2:55460400-55462400	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr2:55460400-55462600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell

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