Variant report

Variant	rs1551655
Chromosome Location	chr8:48873261-48873262
allele	G/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	SP1	chr8:48872371-48873806	A549	lung:	n/a	chr8:48873594-48873604 chr8:48873409-48873421 chr8:48872750-48872762 chr8:48872750-48872762 chr8:48873594-48873604 chr8:48872752-48872761 chr8:48872751-48872760
2	CUX1	chr8:48873223-48873550	K562	blood:	n/a	n/a
3	ELF1	chr8:48873124-48873447	A549	lung:	n/a	chr8:48873284-48873293 chr8:48873407-48873416
4	PML	chr8:48872312-48873797	K562	blood:	n/a	n/a
5	CCNT2	chr8:48873197-48873949	K562	blood:	n/a	n/a
6	JUND	chr8:48873202-48873587	HepG2	liver:	n/a	n/a
7	GABPA	chr8:48873119-48873764	MCF-7	breast:	n/a	n/a
8	HDAC2	chr8:48872310-48873772	MCF-7	breast:	n/a	chr8:48872705-48872714
9	BACH1	chr8:48872877-48873374	K562	blood:	n/a	n/a
10	MAX	chr8:48872326-48874060	SK-N-SH	brain:	n/a	n/a
11	MXI1	chr8:48872328-48873687	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr8:48872288-48874023	GM12878	blood:	n/a	n/a
13	RCOR1	chr8:48872590-48873607	K562	blood:	n/a	n/a
14	GTF2F1	chr8:48872559-48873679	K562	blood:	n/a	n/a
15	POLR2A	chr8:48873048-48873747	HCT-116	colon:	n/a	n/a
16	STAT5A	chr8:48872757-48873601	K562	blood:	n/a	n/a
17	SP1	chr8:48873062-48873618	GM12878	blood:	n/a	chr8:48873594-48873604 chr8:48873409-48873421 chr8:48873594-48873604
18	TRIM28	chr8:48872387-48873810	K562	blood:	n/a	n/a
19	POLR2A	chr8:48872336-48874857	GM12892	blood:	n/a	n/a
20	POLR2A	chr8:48872472-48873951	HUVEC	blood vessel:	n/a	n/a
21	MAX	chr8:48872455-48874506	Hela-S3	cervix:	n/a	n/a
22	SIX5	chr8:48873161-48873536	K562	blood:	n/a	n/a
23	EP300	chr8:48872355-48873775	SK-N-SH	brain:	n/a	chr8:48872757-48872773 chr8:48872764-48872780 chr8:48872761-48872777 chr8:48873624-48873640
24	TFAP2C	chr8:48872562-48874511	Hela-S3	cervix:	n/a	n/a
25	UBTF	chr8:48872387-48873687	K562	blood:	n/a	n/a
26	MYC	chr8:48873211-48873614	HepG2	liver:	n/a	n/a
27	TAF1	chr8:48873100-48873643	PFSK-1	brain:	n/a	n/a
28	YY1	chr8:48872370-48874168	GM12878	blood:	n/a	chr8:48873803-48873817 chr8:48872757-48872768 chr8:48872763-48872777 chr8:48873449-48873463 chr8:48873808-48873817 chr8:48873811-48873825 chr8:48872831-48872853 chr8:48873407-48873421
29	MAX	chr8:48872345-48874509	HepG2	liver:	n/a	n/a
30	POLR2A	chr8:48872370-48874072	MCF10A-Er-Src	breast:	n/a	n/a
31	TAF7	chr8:48873085-48873780	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr8:48873102-48873646	GM12891	blood:	n/a	n/a
33	TAF1	chr8:48873138-48873663	GM12891	blood:	n/a	n/a
34	CTCF	chr8:48873260-48873410	AG10803	skin:	n/a	n/a
35	SP4	chr8:48872537-48873632	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr8:48872366-48873696	HepG2	liver:	n/a	chr8:48872754-48872769
37	TCF7L2	chr8:48873186-48873515	HEK293	kidney:	n/a	n/a
38	NR2F2	chr8:48872418-48873784	MCF-7	breast:	n/a	n/a
39	USF1	chr8:48873147-48873696	ECC-1	luminal epithelium:	n/a	chr8:48873449-48873465
40	POLR2A	chr8:48872349-48873782	GM12891	blood:	n/a	n/a
41	GABPA	chr8:48872244-48873645	MCF-7	breast:	n/a	chr8:48872705-48872716 chr8:48872702-48872716
42	REST	chr8:48873141-48873673	PFSK-1	brain:	n/a	chr8:48873371-48873380
43	FOXM1	chr8:48872518-48873698	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr8:48873001-48873653	PFSK-1	brain:	n/a	n/a
45	MAFF	chr8:48872871-48873555	K562	blood:	n/a	n/a
46	POLR2A	chr8:48872396-48873724	GM12878	blood:	n/a	n/a
47	JUN	chr8:48872196-48873630	K562	blood:	n/a	chr8:48872266-48872275
48	HNF4G	chr8:48873212-48873579	HepG2	liver:	n/a	n/a
49	POLR2A	chr8:48873136-48874378	ECC-1	luminal epithelium:	n/a	n/a
50	TCF12	chr8:48872248-48873900	ECC-1	luminal epithelium:	n/a	chr8:48873836-48873843

No.	Distal block	Cell Line	Cell type
1	chr8:48871383..48875366-chr8:48919489..48922712,6	MCF-7	breast:
2	chr8:48871246..48875685-chr8:48919504..48923066,10	K562	blood:
3	chr21:40176802..40177797-chr8:48872778..48873309,2	Hela-S3	cervix:
4	chr15:66797411..66797929-chr8:48872333..48873322,2	Hela-S3	cervix:
5	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
6	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
7	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
8	chr15:65587346..65589708-chr8:48871280..48874133,2	MCF-7	breast:
9	chr7:87505419..87506040-chr8:48873108..48873913,2	NB4	blood:

Variant related genes	Relation type
PRKDC	TF binding region
MCM4	TF binding region
ENSG00000006634	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000075303	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000253729	Chromatin interaction
ENSG00000169139	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10091017	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.97[MKK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097783	1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10106778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10481294	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10808897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10958438	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11986191	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12156246	0.85[AMR][1000 genomes]
rs12334811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13251871	0.84[AMR][1000 genomes]
rs17334535	0.83[EUR][1000 genomes]
rs1894311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1903082	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28457765	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs28485144	0.85[AMR][1000 genomes]
rs28578331	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28641816	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28702696	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4618724	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4873266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4873737	0.85[AMR][1000 genomes]
rs4873770	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs4873771	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873773	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58108179	0.80[AMR][1000 genomes]
rs6993292	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6993483	0.85[AMR][1000 genomes]
rs72633911	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72647913	0.80[EUR][1000 genomes]
rs72647914	0.85[EUR][1000 genomes]
rs72647916	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72647918	0.88[EUR][1000 genomes]
rs72647922	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7824066	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7838910	0.94[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7839407	0.85[AMR][1000 genomes]
rs8178016	1.00[CEU][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8178079	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8178095	1.00[CEU][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs8178238	1.00[CEU][hapmap]
rs9657054	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats 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
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 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	chr8:48870600-48874200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:48870600-48874600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:48870600-48874600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:48870800-48874000	Active TSS	GM12878-XiMat	blood
5	chr8:48871000-48874000	Active TSS	HMEC	breast
6	chr8:48871000-48874200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr8:48871200-48874000	Active TSS	A549	lung
8	chr8:48871200-48874000	Active TSS	NHDF-Ad	bronchial
9	chr8:48871200-48874200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr8:48871200-48874200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:48871200-48874200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:48871200-48874600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:48871400-48873400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:48871400-48874000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:48871400-48874000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:48871400-48874000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:48871400-48874000	Active TSS	Brain Germinal Matrix	brain
18	chr8:48871400-48874000	Active TSS	K562	blood
19	chr8:48871400-48874000	Active TSS	NHLF	lung
20	chr8:48871400-48874200	Active TSS	Hela-S3	cervix
21	chr8:48871400-48874600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:48871600-48874000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr8:48871600-48874000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:48871600-48874000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr8:48871600-48874000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:48871600-48874000	Active TSS	Left Ventricle	heart
27	chr8:48871600-48874000	Active TSS	Right Ventricle	heart
28	chr8:48871600-48874000	Active TSS	HSMM	muscle
29	chr8:48871600-48874200	Active TSS	Placenta Amnion	Placenta Amnion
30	chr8:48871600-48874200	Active TSS	HSMMtube	muscle
31	chr8:48871600-48874400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr8:48871600-48874400	Active TSS	Psoas Muscle	Psoas
33	chr8:48871600-48874600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:48871600-48875000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:48871800-48873800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:48871800-48873800	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr8:48871800-48873800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:48871800-48873800	Active TSS	Colonic Mucosa	Colon
39	chr8:48871800-48873800	Active TSS	Lung	lung
40	chr8:48871800-48874000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr8:48871800-48874000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:48871800-48874000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:48871800-48874000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:48871800-48874000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:48871800-48874000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:48871800-48874000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:48871800-48874000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:48871800-48874000	Active TSS	Fetal Brain Female	brain
49	chr8:48871800-48874000	Active TSS	Placenta	Placenta
50	chr8:48871800-48874000	Active TSS	Fetal Thymus	thymus

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