Variant report

Variant	rs10459537
Chromosome Location	chr14:70690476-70690477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:70690233-70690690	K562	blood:	n/a	n/a
2	CTCF	chr14:70690451-70690493	K562	blood:	n/a	n/a
3	CHD2	chr14:70690339-70690646	K562	blood:	n/a	n/a
4	POLR2A	chr14:70689985-70690724	K562	blood:	n/a	n/a
5	RCOR1	chr14:70690325-70690529	K562	blood:	n/a	n/a
6	POLR2A	chr14:70690240-70690650	K562	blood:	n/a	n/a
7	TBP	chr14:70690042-70690705	K562	blood:	n/a	n/a
8	ELF1	chr14:70690229-70690741	K562	blood:	n/a	n/a
9	JUND	chr14:70690299-70690804	K562	blood:	n/a	n/a
10	CTCF	chr14:70690440-70690590	BE2_C	brain:	n/a	n/a
11	GABPA	chr14:70690281-70690690	K562	blood:	n/a	n/a
12	CTCF	chr14:70690439-70690752	K562	blood:	n/a	n/a
13	CTCF	chr14:70690394-70690787	K562	blood:	n/a	n/a
14	POLR2A	chr14:70690250-70690790	PBDE	blood:	n/a	n/a
15	POLR2A	chr14:70690328-70690619	K562	blood:	n/a	n/a
16	ARID3A	chr14:70690400-70690968	K562	blood:	n/a	n/a
17	ZNF384	chr14:70690001-70690522	GM12878	blood:	n/a	n/a
18	ZNF143	chr14:70690288-70690710	K562	blood:	n/a	n/a
19	GTF2F1	chr14:70690318-70690518	K562	blood:	n/a	n/a
20	SPI1	chr14:70690445-70690624	K562	blood:	n/a	n/a
21	MAFK	chr14:70690382-70690817	K562	blood:	n/a	n/a
22	RAD21	chr14:70690379-70690840	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr14:70689995-70690804	K562	blood:	n/a	n/a
24	CEBPB	chr14:70690132-70690487	K562	blood:	n/a	n/a
25	HCFC1	chr14:70690287-70690679	K562	blood:	n/a	n/a
26	UBTF	chr14:70690288-70690684	K562	blood:	n/a	n/a
27	IRF1	chr14:70690095-70690693	K562	blood:	n/a	n/a
28	POLR2A	chr14:70689886-70690682	K562	blood:	n/a	n/a
29	EP300	chr14:70690232-70690860	K562	blood:	n/a	n/a
30	RCOR1	chr14:70689971-70690808	K562	blood:	n/a	n/a
31	BHLHE40	chr14:70690031-70690525	K562	blood:	n/a	n/a
32	ZBTB7A	chr14:70690316-70690706	K562	blood:	n/a	n/a
33	SETDB1	chr14:70690464-70690701	U2OS	brain:	n/a	n/a
34	HEY1	chr14:70690234-70690602	K562	blood:	n/a	n/a
35	ELF1	chr14:70690364-70690694	GM12878	blood:	n/a	n/a
36	ZMIZ1	chr14:70690281-70690780	K562	blood:	n/a	n/a
37	CTCF	chr14:70690476-70690754	H1-hESC	embryonic stem cell:	n/a	n/a
38	UBTF	chr14:70690430-70690602	K562	blood:	n/a	n/a
39	GABPA	chr14:70690316-70690697	K562	blood:	n/a	n/a
40	MYC	chr14:70690245-70690927	K562	blood:	n/a	n/a
41	POLR2A	chr14:70689931-70690743	GM19099	blood:	n/a	n/a
42	MAX	chr14:70690359-70690700	K562	blood:	n/a	n/a
43	CTCF	chr14:70690441-70690790	GM12878	blood:	n/a	n/a
44	TAF1	chr14:70690325-70690643	K562	blood:	n/a	n/a
45	POLR2A	chr14:70689998-70690697	K562	blood:	n/a	n/a
46	IRF1	chr14:70690416-70690795	K562	blood:	n/a	n/a
47	CTCF	chr14:70690271-70690824	K562	blood:	n/a	n/a
48	ZNF384	chr14:70689874-70690880	K562	blood:	n/a	n/a
49	ZNF263	chr14:70690266-70690700	HEK293-T-REx	kidney:	n/a	n/a
50	MAZ	chr14:70690265-70690812	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70690454-70690504	A549	lung:	n/a
2	chr14:70690454-70690504	Hela-S3	cervix:	n/a
3	chr14:70690454-70690504	NHDF-neo	bronchial:	n/a
4	chr14:70690454-70690504	HCPEpiC	choroid plexus:	n/a
5	chr14:70690454-70690504	SK-N-SH	brain:	n/a
6	chr14:70690454-70690504	SK-N-SH_RA	brain:	n/a
7	chr14:70690454-70690504	GM06990	blood:	n/a
8	chr14:70690454-70690504	Hepatocyte	liver:	n/a
9	chr14:70690454-70690504	K562	blood:	n/a
10	chr14:70690454-70690504	AG04450	lung:	fetal
11	chr14:70690454-70690504	AG10803	skin:	n/a
12	chr14:70690454-70690504	HCF	heart:	n/a
13	chr14:70690454-70690504	BE2_C	brain:	n/a
14	chr14:70690454-70690504	NHBE	bronchial:	n/a
15	chr14:70690454-70690504	AG09309	skin:	n/a
16	chr14:70690454-70690504	HL-60	blood:	n/a
17	chr14:70690454-70690504	HEEpiC	esophagus:	n/a
18	chr14:70690454-70690504	HRE	kidney:	n/a
19	chr14:70690454-70690504	HAEpiC	amniotic membrane:	n/a
20	chr14:70690454-70690504	GM12878	blood:	n/a
21	chr14:70690454-70690504	NT2-D1	testis:	n/a
22	chr14:70690454-70690504	HMEC	breast:	n/a
23	chr14:70690454-70690504	ProgFib	skin:	n/a
24	chr14:70690454-70690504	NH-A	brain:	n/a
25	chr14:70690454-70690504	HRPEpiC	eye:	n/a
26	chr14:70690454-70690504	ECC-1	luminal epithelium:	n/a
27	chr14:70690454-70690504	MCF-7	breast:	n/a
28	chr14:70690454-70690504	SK-N-MC	brain:	n/a
29	chr14:70690454-70690504	T-47D	breast:	n/a
30	chr14:70690454-70690504	GM12892	blood:	n/a
31	chr14:70690454-70690504	Jurkat	blood:	n/a
32	chr14:70690454-70690504	GM12891	blood:	n/a
33	chr14:70690454-70690504	LNCaP	prostate:	n/a
34	chr14:70690454-70690504	NB4	blood:	n/a
35	chr14:70690454-70690504	AG04449	skin:	fetal
36	chr14:70690454-70690504	CMK	blood:	n/a
37	chr14:70690454-70690504	HepG2	liver:	n/a
38	chr14:70690454-70690504	PFSK-1	brain:	n/a
39	chr14:70690454-70690504	GM19239	blood:	n/a
40	chr14:70690454-70690504	HNPCEpiC	eye:	n/a
41	chr14:70690454-70690504	PANC-1	pancreas:	n/a
42	chr14:70690454-70690504	Caco-2	colon:	n/a
43	chr14:70690454-70690504	ovcar-3	ovarian:	n/a
44	chr14:70690454-70690504	BJ	skin:	n/a
45	chr14:70690454-70690504	HEK293	kidney:	embryo
46	chr14:70690454-70690504	AG09319	gingival:	n/a
47	chr14:70690454-70690504	SAEC	small airway:	n/a
48	chr14:70690454-70690504	PrEC	prostate:	n/a
49	chr14:70690454-70690504	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:70690454-70690504	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000258422	TF binding region
ENSG00000258422	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1115250	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625280	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627378	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11629177	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886671	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12887997	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12892653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895508	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17765643	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1812858	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1834426	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2182972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217022	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2225195	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2332274	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34199159	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34204434	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34368785	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35059733	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35761259	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35854868	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35858046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56811288	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978252	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7142965	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7350719	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013825	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8017936	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8018340	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9323533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3516672	chr14:70686699-70690597	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv565021	chr14:70688130-70690877	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv565030	chr14:70688352-70690877	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	esv3345682	chr14:70689349-70691247	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70689600-70690800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:70689600-70690800	Active TSS	K562	blood
3	chr14:70689600-70691000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:70689800-70690600	Active TSS	Primary hematopoietic stem cells	blood
5	chr14:70689800-70690800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:70689800-70690800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:70690000-70690600	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr14:70690000-70690600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:70690000-70690600	Active TSS	HSMM	muscle
10	chr14:70690000-70690600	Active TSS	NH-A	brain
11	chr14:70690000-70690800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:70690000-70691000	Active TSS	HSMMtube	muscle
13	chr14:70690200-70690600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:70690200-70690600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:70690200-70690600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:70690200-70690600	Active TSS	Brain Cingulate Gyrus	brain
17	chr14:70690200-70690600	Active TSS	Duodenum Mucosa	Duodenum
18	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
19	chr14:70690200-70690600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
20	chr14:70690200-70690600	Active TSS	Fetal Thymus	thymus
21	chr14:70690200-70690600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
22	chr14:70690200-70690600	Bivalent/Poised TSS	NHEK	skin
23	chr14:70690200-70690800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr14:70690200-70690800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:70690200-70690800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:70690200-70690800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:70690200-70690800	Active TSS	Adipose Nuclei	Adipose
28	chr14:70690200-70690800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:70690200-70690800	Active TSS	Fetal Stomach	stomach
30	chr14:70690200-70690800	Active TSS	Psoas Muscle	Psoas
31	chr14:70690200-70690800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
32	chr14:70690400-70690600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr14:70690400-70690600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
34	chr14:70690400-70690600	Flanking Bivalent TSS/Enh	Placenta	Placenta
35	chr14:70690400-70690600	Enhancers	Gastric	stomach
36	chr14:70690400-70690600	Flanking Bivalent TSS/Enh	Left Ventricle	heart
37	chr14:70690400-70690600	Active TSS	Pancreas	Pancrea
38	chr14:70690400-70690600	Flanking Active TSS	GM12878-XiMat	blood

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