Variant report

Variant	rs1423457
Chromosome Location	chr5:108064333-108064334
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	IRF1	chr5:108063820-108064814	K562	blood:	n/a	chr5:108064309-108064323 chr5:108064744-108064758 chr5:108064431-108064445 chr5:108064310-108064320 chr5:108064742-108064756 chr5:108064309-108064323 chr5:108064281-108064295 chr5:108064310-108064323 chr5:108064740-108064754
2	NR2F2	chr5:108063817-108064490	K562	blood:	n/a	n/a
3	USF2	chr5:108063829-108064457	Hela-S3	cervix:	n/a	chr5:108064173-108064189 chr5:108064036-108064052
4	POLR2A	chr5:108063666-108064398	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:108062323-108064800	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:108063517-108064430	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr5:108062196-108064794	K562	blood:	n/a	n/a
8	MAX	chr5:108063338-108064447	MCF-7	breast:	n/a	chr5:108064303-108064312
9	POLR2A	chr5:108063589-108064466	A549	lung:	n/a	n/a
10	MAX	chr5:108063341-108064354	HepG2	liver:	n/a	chr5:108064303-108064312
11	MAX	chr5:108063367-108064494	A549	lung:	n/a	chr5:108064303-108064312
12	CUX1	chr5:108063896-108064404	K562	blood:	n/a	n/a
13	POLR2A	chr5:108063252-108064343	GM12892	blood:	n/a	n/a
14	POLR2A	chr5:108062392-108064816	U87	brain:	n/a	n/a
15	MYC	chr5:108062898-108064790	NB4	blood:	n/a	chr5:108064303-108064312
16	EP300	chr5:108063853-108064893	GM12878	blood:	n/a	chr5:108064551-108064565
17	EGR1	chr5:108064248-108064469	GM12878	blood:	n/a	chr5:108064436-108064449 chr5:108064436-108064449 chr5:108064435-108064445
18	POLR2A	chr5:108062972-108064360	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr5:108062282-108064393	K562	blood:	n/a	n/a
20	RCOR1	chr5:108062183-108064863	K562	blood:	n/a	n/a
21	CHD2	chr5:108063320-108064721	GM12878	blood:	n/a	n/a
22	JUND	chr5:108062208-108064888	K562	blood:	n/a	chr5:108064436-108064445 chr5:108064437-108064446
23	POLR2A	chr5:108062901-108064388	K562	blood:	n/a	n/a
24	POLR2A	chr5:108063241-108064395	GM12892	blood:	n/a	n/a
25	RELA	chr5:108063471-108064544	GM19193	blood:	n/a	n/a
26	WRNIP1	chr5:108063792-108064333	GM12878	blood:	n/a	n/a
27	PAX5	chr5:108063183-108064486	GM12878	blood:	n/a	n/a
28	GTF2F1	chr5:108063062-108064365	Hela-S3	cervix:	n/a	n/a
29	BATF	chr5:108064117-108064510	GM12878	blood:	n/a	n/a
30	SP1	chr5:108063236-108064421	A549	lung:	n/a	chr5:108064004-108064015 chr5:108064121-108064135
31	CTBP2	chr5:108063557-108064446	H1-hESC	embryonic stem cell:	n/a	n/a
32	BCLAF1	chr5:108063789-108064414	GM12878	blood:	n/a	n/a
33	MAX	chr5:108062884-108064494	K562	blood:	n/a	chr5:108064303-108064312
34	EBF1	chr5:108063977-108064653	GM12878	blood:	n/a	n/a
35	FOSL2	chr5:108063577-108064366	A549	lung:	n/a	n/a
36	MAFK	chr5:108062360-108064377	K562	blood:	n/a	n/a
37	POLR2A	chr5:108062961-108064755	GM12878	blood:	n/a	n/a
38	POLR2A	chr5:108063257-108064437	GM12891	blood:	n/a	n/a
39	PAX5	chr5:108063789-108064383	GM12878	blood:	n/a	n/a
40	REST	chr5:108063548-108064489	A549	lung:	n/a	n/a
41	TAF1	chr5:108062905-108064338	GM12878	blood:	n/a	n/a
42	HCFC1	chr5:108062973-108064644	K562	blood:	n/a	n/a
43	MAX	chr5:108063404-108064510	H1-hESC	embryonic stem cell:	n/a	chr5:108064303-108064312
44	MAX	chr5:108063724-108064388	GM12878	blood:	n/a	chr5:108064303-108064312
45	UBTF	chr5:108062204-108064364	K562	blood:	n/a	n/a
46	TBL1XR1	chr5:108063360-108064883	GM12878	blood:	n/a	n/a
47	MYC	chr5:108063903-108065201	MCF10A-Er-Src	breast:	n/a	chr5:108064303-108064312
48	MAX	chr5:108063573-108064457	SK-N-SH	brain:	n/a	chr5:108064303-108064312
49	MAX	chr5:108062919-108064403	MCF-7	breast:	n/a	chr5:108064303-108064312
50	E2F6	chr5:108063619-108064442	H1-hESC	embryonic stem cell:	n/a	chr5:108064186-108064193 chr5:108064186-108064193 chr5:108064183-108064194 chr5:108063704-108063713 chr5:108064186-108064193

No.	Distal block	Cell Line	Cell type
1	chr5:108060235..108074407-chr5:108078172..108087811,48	K562	blood:
2	chr5:108062598..108065696-chr5:108743430..108747045,3	K562	blood:
3	chr5:108062273..108066431-chr5:108081834..108086243,5	MCF-7	breast:
4	chr20:44441112..44441718-chr5:108063800..108064394,2	HCT-116	colon:
5	chr5:108062575..108065883-chr5:108081229..108085721,5	MCF-7	breast:
6	chr5:108063588..108065189-chr5:109024997..109026908,2	MCF-7	breast:
7	chr5:108059312..108068052-chr5:108079113..108087366,42	K562	blood:

Variant related genes	Relation type
LINC01023	TF binding region
ENSG00000151422	Chromatin interaction
ENSG00000112893	Chromatin interaction
ENSG00000198961	Chromatin interaction
ENSG00000175063	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10038669	0.92[JPT][hapmap]
rs10062204	0.85[JPT][hapmap]
rs10063167	0.92[JPT][hapmap]
rs10073668	0.92[JPT][hapmap]
rs1022045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10223256	0.82[AMR][1000 genomes]
rs1109617	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11240982	0.81[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11739006	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12153703	0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13173714	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13180513	0.92[JPT][hapmap]
rs17161476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2081126	0.93[JPT][hapmap]
rs2081129	0.93[JPT][hapmap]
rs28684578	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2900035	0.92[JPT][hapmap]
rs34660781	0.94[ASN][1000 genomes]
rs35398495	0.96[ASN][1000 genomes]
rs4957789	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6594333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6594334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594336	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6871143	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6871239	0.82[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6873068	0.96[ASN][1000 genomes]
rs6874229	0.92[JPT][hapmap]
rs6880284	0.92[JPT][hapmap]
rs6889967	0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6891194	0.92[JPT][hapmap]
rs6892439	0.99[ASN][1000 genomes]
rs6895027	0.93[JPT][hapmap]
rs7711795	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7712834	0.93[JPT][hapmap]
rs7716320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7716485	0.99[ASN][1000 genomes]
rs7716498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7735235	0.93[JPT][hapmap]
rs9285863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326748	0.92[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 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	chr5:108062200-108065000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:108062400-108065000	Active TSS	Brain Hippocampus Middle	brain
3	chr5:108062600-108064400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:108062600-108064400	Active TSS	Fetal Intestine Large	intestine
5	chr5:108062600-108064600	Active TSS	Fetal Intestine Small	intestine
6	chr5:108062600-108064800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:108062600-108065000	Active TSS	Stomach Smooth Muscle	stomach
8	chr5:108062800-108064400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:108062800-108064400	Active TSS	Colon Smooth Muscle	Colon
10	chr5:108062800-108064600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr5:108062800-108064600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr5:108062800-108064600	Active TSS	Fetal Stomach	stomach
13	chr5:108062800-108064600	Active TSS	A549	lung
14	chr5:108062800-108064800	Active TSS	Aorta	Aorta
15	chr5:108062800-108064800	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:108062800-108065000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:108062800-108065000	Active TSS	Brain Anterior Caudate	brain
18	chr5:108062800-108065000	Active TSS	Brain Cingulate Gyrus	brain
19	chr5:108062800-108065000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:108062800-108065000	Active TSS	Right Atrium	heart
21	chr5:108062800-108065000	Active TSS	K562	blood
22	chr5:108063000-108064400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:108063000-108064400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:108063000-108064400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:108063000-108064400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:108063000-108064400	Active TSS	Brain Angular Gyrus	brain
27	chr5:108063000-108064400	Active TSS	Lung	lung
28	chr5:108063000-108064600	Active TSS	Fetal Muscle Trunk	muscle
29	chr5:108063000-108064600	Active TSS	Right Ventricle	heart
30	chr5:108063000-108064600	Active TSS	HSMM	muscle
31	chr5:108063000-108064800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:108063000-108064800	Active TSS	Psoas Muscle	Psoas
33	chr5:108063000-108064800	Flanking Active TSS	Dnd41	blood
34	chr5:108063200-108064400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:108063200-108064400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:108063200-108064400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr5:108063200-108064400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:108063200-108064400	Active TSS	Esophagus	oesophagus
39	chr5:108063200-108064600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr5:108063200-108064600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr5:108063200-108064600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr5:108063200-108064600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:108063200-108064600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:108063200-108064600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:108063200-108064600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:108063200-108064600	Active TSS	Fetal Kidney	kidney
47	chr5:108063200-108064600	Active TSS	Pancreas	Pancrea
48	chr5:108063200-108064800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr5:108063200-108064800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:108063200-108064800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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