Variant report

Variant	rs4737486
Chromosome Location	chr8:55014562-55014563
allele	A/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	chr8:55013899-55014811	GM12878	blood:	n/a	n/a
2	RUNX3	chr8:55014509-55014873	GM12878	blood:	n/a	n/a
3	YY1	chr8:55013994-55014811	GM12878	blood:	n/a	chr8:55014570-55014579 chr8:55014567-55014578 chr8:55014466-55014480 chr8:55014556-55014567 chr8:55014634-55014645 chr8:55014627-55014641
4	ELK1	chr8:55013951-55014771	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:55013520-55014997	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:55013573-55015450	Raji	blood:	n/a	n/a
7	MAX	chr8:55013812-55014916	HepG2	liver:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
8	MYC	chr8:55013921-55014900	HepG2	liver:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
9	REST	chr8:55013826-55015068	HL-60	blood:	n/a	chr8:55014577-55014590
10	CEBPD	chr8:55014058-55014837	HepG2	liver:	n/a	n/a
11	MYC	chr8:55013984-55014856	H1-hESC	embryonic stem cell:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
12	POLR2A	chr8:55014539-55014908	HepG2	liver:	n/a	n/a
13	YY1	chr8:55013903-55014711	H1-hESC	embryonic stem cell:	n/a	chr8:55014570-55014579 chr8:55014567-55014578 chr8:55014466-55014480 chr8:55014556-55014567 chr8:55014634-55014645 chr8:55014627-55014641
14	CEBPB	chr8:55013968-55014851	HepG2	liver:	n/a	chr8:55014622-55014630
15	E2F4	chr8:55013994-55014828	K562	blood:	n/a	chr8:55014570-55014579 chr8:55014492-55014501 chr8:55014622-55014631 chr8:55014631-55014641
16	POLR2A	chr8:55013764-55015029	HL-60	blood:	n/a	n/a
17	MXI1	chr8:55012555-55015306	SK-N-SH	brain:	n/a	n/a
18	EBF1	chr8:55014278-55015075	GM12878	blood:	n/a	n/a
19	MXI1	chr8:55013451-55015115	IMR90	lung:	n/a	n/a
20	TBL1XR1	chr8:55013673-55014847	K562	blood:	n/a	n/a
21	POLR2A	chr8:55013629-55015308	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr8:55014440-55014986	K562	blood:	n/a	n/a
23	ZBTB7A	chr8:55014454-55014765	K562	blood:	n/a	n/a
24	HEY1	chr8:55014127-55014578	K562	blood:	n/a	n/a
25	POLR2A	chr8:55013664-55015078	GM19099	blood:	n/a	n/a
26	E2F4	chr8:55014368-55014832	MCF10A-Er-Src	breast:	n/a	chr8:55014570-55014579 chr8:55014492-55014501 chr8:55014622-55014631 chr8:55014631-55014641
27	POLR2A	chr8:55013771-55014966	GM12892	blood:	n/a	n/a
28	JUND	chr8:55013693-55014943	K562	blood:	n/a	chr8:55013706-55013715 chr8:55014620-55014629
29	POLR2A	chr8:55013827-55014945	Hela-S3	cervix:	n/a	n/a
30	RFX5	chr8:55014508-55014855	GM12878	blood:	n/a	chr8:55014621-55014630
31	POLR2A	chr8:55014207-55014873	U87	brain:	n/a	n/a
32	POLR2A	chr8:55013898-55014959	HUVEC	blood vessel:	n/a	n/a
33	HDAC2	chr8:55013911-55014676	HepG2	liver:	n/a	chr8:55014533-55014542 chr8:55014493-55014502
34	TAF1	chr8:55014232-55014803	SK-N-SH	brain:	n/a	n/a
35	MAX	chr8:55013769-55014977	MCF-7	breast:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
36	MAX	chr8:55013827-55014979	K562	blood:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
37	CTCF	chr8:55014492-55014760	Spleen_OC	spleen:	n/a	n/a
38	MAZ	chr8:55013558-55014961	GM12878	blood:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
39	YY1	chr8:55013976-55014856	GM12878	blood:	n/a	chr8:55014570-55014579 chr8:55014567-55014578 chr8:55014466-55014480 chr8:55014556-55014567 chr8:55014634-55014645 chr8:55014627-55014641
40	MYC	chr8:55013755-55014904	K562	blood:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
41	POLR2A	chr8:55013462-55014956	HepG2	liver:	n/a	n/a
42	NRF1	chr8:55014335-55015148	K562	blood:	n/a	chr8:55014675-55014689 chr8:55014526-55014535 chr8:55014678-55014689 chr8:55014678-55014692 chr8:55014677-55014688 chr8:55014491-55014505 chr8:55014491-55014502 chr8:55014493-55014502
43	SIN3AK20	chr8:55013834-55014576	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr8:55013842-55014806	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr8:55013845-55014987	GM18526	blood:	n/a	n/a
46	RFX5	chr8:55014280-55014848	HepG2	liver:	n/a	chr8:55014621-55014630
47	NFYB	chr8:55014447-55015485	K562	blood:	n/a	chr8:55014618-55014633 chr8:55014622-55014634 chr8:55014619-55014633 chr8:55015179-55015194 chr8:55014618-55014633
48	YY1	chr8:55014226-55014758	SK-N-SH_RA	brain:	n/a	chr8:55014570-55014579 chr8:55014567-55014578 chr8:55014466-55014480 chr8:55014556-55014567 chr8:55014634-55014645 chr8:55014627-55014641
49	MAX	chr8:55013747-55015126	A549	lung:	n/a	chr8:55014224-55014233 chr8:55014577-55014587
50	POLR2A	chr8:55013798-55014983	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:43147767..43148594-chr8:55013821..55014667,2	HCT-116	colon:
2	chr8:55012232..55015363-chr8:55063151..55067460,5	K562	blood:
3	chr8:55012759..55014929-chr8:55046340..55050101,4	K562	blood:
4	chr8:55013205..55015046-chr8:55046385..55049225,2	MCF-7	breast:
5	chr5:162886981..162887825-chr8:55014104..55014735,2	NB4	blood:
6	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
7	chr8:54933970..54936104-chr8:55012695..55015394,2	MCF-7	breast:
8	chr8:55012569..55016203-chr8:55046168..55049938,7	MCF-7	breast:
9	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
10	chr8:55012350..55016130-chr8:55063151..55067016,6	K562	blood:
11	chr20:45946400..45948172-chr8:55014333..55016301,2	MCF-7	breast:

Variant related genes	Relation type
LYPLA1	TF binding region
ENSG00000187735	Chromatin interaction
ENSG00000170584	Chromatin interaction
ENSG00000072571	Chromatin interaction
ENSG00000251835	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000065978	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10101097	0.86[ASN][1000 genomes]
rs10113246	0.82[ASN][1000 genomes]
rs1050523	0.83[ASN][1000 genomes]
rs10958396	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11986577	0.82[ASN][1000 genomes]
rs11993367	0.89[ASN][1000 genomes]
rs11994629	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996128	0.89[EUR][1000 genomes]
rs11996666	0.85[ASN][1000 genomes]
rs11997954	0.85[ASN][1000 genomes]
rs12056381	0.85[ASN][1000 genomes]
rs12674671	0.85[ASN][1000 genomes]
rs12674895	0.89[EUR][1000 genomes]
rs12676510	0.81[ASN][1000 genomes]
rs12679103	0.90[EUR][1000 genomes]
rs1828835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037068	0.89[ASN][1000 genomes]
rs2271567	0.92[EUR][1000 genomes]
rs2292590	0.92[EUR][1000 genomes]
rs2375696	0.90[EUR][1000 genomes]
rs2375697	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28494618	0.84[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34997387	0.84[EUR][1000 genomes]
rs4440612	0.84[ASN][1000 genomes]
rs4506187	0.89[ASN][1000 genomes]
rs4515510	0.84[ASN][1000 genomes]
rs4737457	0.89[ASN][1000 genomes]
rs4737479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737485	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737487	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4737488	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4738519	0.84[ASN][1000 genomes]
rs4738556	0.85[ASN][1000 genomes]
rs4738586	0.84[ASN][1000 genomes]
rs57872947	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58387069	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58419852	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58929175	0.85[ASN][1000 genomes]
rs58948369	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59882028	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60183530	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61213253	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61271559	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61319412	0.85[ASN][1000 genomes]
rs61477279	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6473900	0.85[ASN][1000 genomes]
rs6473909	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983694	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009781	0.84[ASN][1000 genomes]
rs7011379	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7011430	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72614663	0.84[ASN][1000 genomes]
rs72614664	0.85[ASN][1000 genomes]
rs72614665	0.85[ASN][1000 genomes]
rs72614666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614667	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72614668	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614670	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463261	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7464767	0.84[ASN][1000 genomes]
rs7815216	0.83[ASN][1000 genomes]
rs7842911	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9298497	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs952194	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643823	0.85[ASN][1000 genomes]
rs9643824	0.84[ASN][1000 genomes]
rs981638	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55012200-55014800	Active TSS	Hela-S3	cervix
2	chr8:55012200-55015200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:55012400-55014600	Active TSS	NHEK	skin
4	chr8:55012400-55014800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:55012400-55015400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:55012600-55014600	Active TSS	HMEC	breast
7	chr8:55012600-55014800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:55012600-55014800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:55012600-55014800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:55012600-55014800	Active TSS	A549	lung
11	chr8:55012600-55014800	Active TSS	GM12878-XiMat	blood
12	chr8:55012800-55014600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:55012800-55014800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:55012800-55014800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:55012800-55014800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:55012800-55014800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:55012800-55014800	Active TSS	HepG2	liver
18	chr8:55012800-55015000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:55012800-55015000	Active TSS	Primary T cells from cord blood	blood
20	chr8:55012800-55015000	Active TSS	Brain Germinal Matrix	brain
21	chr8:55012800-55015000	Active TSS	Psoas Muscle	Psoas
22	chr8:55012800-55015000	Active TSS	NHLF	lung
23	chr8:55012800-55015200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:55012800-55015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:55013000-55014600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:55013000-55014600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:55013000-55014800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:55013000-55014800	Active TSS	Colonic Mucosa	Colon
29	chr8:55013000-55014800	Active TSS	Placenta	Placenta
30	chr8:55013000-55014800	Active TSS	Fetal Thymus	thymus
31	chr8:55013000-55014800	Active TSS	Right Ventricle	heart
32	chr8:55013000-55014800	Active TSS	K562	blood
33	chr8:55013000-55014800	Active TSS	NH-A	brain
34	chr8:55013000-55014800	Active TSS	NHDF-Ad	bronchial
35	chr8:55013000-55015000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:55013000-55015000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:55013000-55015000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr8:55013000-55015000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:55013000-55015000	Active TSS	Brain Anterior Caudate	brain
40	chr8:55013000-55015000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:55013000-55015000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:55013200-55014600	Active TSS	Primary T cells fromperipheralblood	blood
43	chr8:55013200-55014600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr8:55013200-55014800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:55013200-55014800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:55013200-55014800	Active TSS	Fetal Intestine Large	intestine
47	chr8:55013200-55014800	Active TSS	Fetal Intestine Small	intestine
48	chr8:55013200-55015000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:55013200-55015000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:55013200-55015000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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