Variant report

Variant	rs17287548
Chromosome Location	chr8:48873897-48873898
allele	C/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	CCNT2	chr8:48873197-48873949	K562	blood:	n/a	n/a
2	MAX	chr8:48872326-48874060	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr8:48872288-48874023	GM12878	blood:	n/a	n/a
4	STAT3	chr8:48873876-48874159	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr8:48872336-48874857	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:48872472-48873951	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr8:48872455-48874506	Hela-S3	cervix:	n/a	n/a
8	TFAP2C	chr8:48872562-48874511	Hela-S3	cervix:	n/a	n/a
9	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
10	MAX	chr8:48872345-48874509	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:48872370-48874072	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:48873136-48874378	ECC-1	luminal epithelium:	n/a	n/a
13	TCF12	chr8:48872248-48873900	ECC-1	luminal epithelium:	n/a	chr8:48873836-48873843
14	MAX	chr8:48872466-48874507	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:48872216-48874466	K562	blood:	n/a	n/a
16	CTCF	chr8:48873800-48873950	GM12866	blood:	n/a	n/a
17	POLR2A	chr8:48872146-48875294	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:48871915-48874902	K562	blood:	n/a	n/a
19	POLR2A	chr8:48872385-48874348	GM18526	blood:	n/a	n/a
20	FOXA1	chr8:48873782-48874134	T-47D	breast:	n/a	n/a
21	POLR2A	chr8:48872272-48874240	K562	blood:	n/a	n/a
22	GTF2F1	chr8:48873892-48874264	Hela-S3	cervix:	n/a	n/a
23	JUN	chr8:48872218-48874858	K562	blood:	n/a	chr8:48873984-48873992 chr8:48873652-48873661 chr8:48873988-48873995 chr8:48873986-48873995 chr8:48872266-48872275
24	POLR2A	chr8:48872346-48874233	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr8:48873004-48874327	K562	blood:	n/a	n/a
26	FOSL2	chr8:48873719-48874325	MCF-7	breast:	n/a	chr8:48873984-48873992 chr8:48873988-48873995 chr8:48873986-48873995
27	MYC	chr8:48873216-48874005	MCF-7	breast:	n/a	n/a
28	MAX	chr8:48872345-48874514	K562	blood:	n/a	n/a
29	POLR2A	chr8:48872466-48874500	K562	blood:	n/a	n/a
30	MYC	chr8:48872264-48874499	K562	blood:	n/a	n/a
31	POLR2A	chr8:48872338-48874311	MCF-7	breast:	n/a	n/a
32	TBP	chr8:48872356-48874072	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr8:48873145-48874298	GM12878	blood:	n/a	n/a
34	MAX	chr8:48872357-48874428	ECC-1	luminal epithelium:	n/a	n/a
35	TCF12	chr8:48873153-48874044	GM12878	blood:	n/a	chr8:48873836-48873843
36	MAX	chr8:48872293-48874469	HepG2	liver:	n/a	n/a
37	TCF3	chr8:48873153-48873999	GM12878	blood:	n/a	n/a
38	HA-E2F1	chr8:48872250-48874258	MCF-7	breast:	n/a	chr8:48873271-48873278 chr8:48873271-48873278 chr8:48872706-48872715 chr8:48873268-48873285 chr8:48873806-48873816 chr8:48872816-48872833 chr8:48873273-48873283 chr8:48872751-48872760 chr8:48873274-48873282 chr8:48873267-48873281 chr8:48873600-48873615 chr8:48873272-48873286 chr8:48873272-48873283 chr8:48873271-48873282 chr8:48873585-48873594 chr8:48873274-48873282 chr8:48872770-48872780 chr8:48873271-48873278
39	HA-E2F1	chr8:48872462-48874026	Hela-S3	cervix:	n/a	chr8:48873271-48873278 chr8:48873271-48873278 chr8:48872706-48872715 chr8:48873268-48873285 chr8:48873806-48873816 chr8:48872816-48872833 chr8:48873273-48873283 chr8:48872751-48872760 chr8:48873274-48873282 chr8:48873267-48873281 chr8:48873600-48873615 chr8:48873272-48873286 chr8:48873272-48873283 chr8:48873271-48873282 chr8:48873585-48873594 chr8:48873274-48873282 chr8:48872770-48872780 chr8:48873271-48873278
40	MXI1	chr8:48872419-48874340	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:48873811-48873930	A549	lung:	n/a	n/a
42	SIN3AK20	chr8:48873026-48874273	SK-N-SH	brain:	n/a	n/a
43	HEY1	chr8:48872268-48874527	K562	blood:	n/a	chr8:48872754-48872769
44	MTA3	chr8:48872144-48874559	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:48872307-48874281	MCF-7	breast:	n/a	n/a
46	POLR2A	chr8:48872347-48874442	K562	blood:	n/a	n/a
47	CTBP2	chr8:48872695-48873984	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr8:48872310-48874508	A549	lung:	n/a	n/a
49	TCF7L2	chr8:48872459-48874292	Hela-S3	cervix:	n/a	chr8:48873986-48873995
50	FOS	chr8:48873813-48874349	MCF10A-Er-Src	breast:	n/a	chr8:48873984-48873992 chr8:48873985-48873996 chr8:48873988-48873995 chr8:48873986-48873995

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	chr11:75273252..75273856-chr8:48873481..48874356,2	NB4	blood:
4	chr8:48870802..48875414-chr8:48919446..48923770,8	MCF-7	breast:
5	chr8:48851587..48857130-chr8:48871349..48874968,8	MCF-7	breast:
6	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:
7	chr8:48870843..48877121-chr8:48919292..48922738,10	K562	blood:
8	chr8:48873449..48876076-chr8:48887828..48890421,3	MCF-7	breast:
9	chr15:65587346..65589708-chr8:48871280..48874133,2	MCF-7	breast:
10	chr7:87505419..87506040-chr8:48873108..48873913,2	NB4	blood:

Variant related genes	Relation type
PRKDC	TF binding region
MCM4	TF binding region
ENSG00000104738	Chromatin interaction
ENSG00000075303	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000253729	Chromatin interaction
ENSG00000169139	Chromatin interaction
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8178059	1.00[MKK][hapmap]

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	chr8:48871400-48874000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:48871400-48874000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:48871400-48874000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:48871400-48874000	Active TSS	Brain Germinal Matrix	brain
17	chr8:48871400-48874000	Active TSS	K562	blood
18	chr8:48871400-48874000	Active TSS	NHLF	lung
19	chr8:48871400-48874200	Active TSS	Hela-S3	cervix
20	chr8:48871400-48874600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:48871600-48874000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:48871600-48874000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:48871600-48874000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr8:48871600-48874000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:48871600-48874000	Active TSS	Left Ventricle	heart
26	chr8:48871600-48874000	Active TSS	Right Ventricle	heart
27	chr8:48871600-48874000	Active TSS	HSMM	muscle
28	chr8:48871600-48874200	Active TSS	Placenta Amnion	Placenta Amnion
29	chr8:48871600-48874200	Active TSS	HSMMtube	muscle
30	chr8:48871600-48874400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr8:48871600-48874400	Active TSS	Psoas Muscle	Psoas
32	chr8:48871600-48874600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:48871600-48875000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:48871800-48874000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr8:48871800-48874000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:48871800-48874000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:48871800-48874000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:48871800-48874000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:48871800-48874000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:48871800-48874000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:48871800-48874000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:48871800-48874000	Active TSS	Fetal Brain Female	brain
43	chr8:48871800-48874000	Active TSS	Placenta	Placenta
44	chr8:48871800-48874000	Active TSS	Fetal Thymus	thymus
45	chr8:48871800-48874000	Active TSS	Ovary	ovary
46	chr8:48871800-48874000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:48871800-48874000	Active TSS	Rectal Smooth Muscle	rectum
48	chr8:48871800-48874200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:48871800-48874200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:48871800-48874200	Active TSS	Fetal Intestine Large	intestine

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