Variant report

Variant	rs7134842
Chromosome Location	chr12:48153548-48153549
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	MAX	chr12:48152386-48153668	HCT-116	colon:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
2	SMARCB1	chr12:48152398-48153645	Hela-S3	cervix:	n/a	chr12:48153007-48153016
3	FOXM1	chr12:48151523-48153764	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr12:48152326-48153584	MCF-7	breast:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
5	CTCF	chr12:48152493-48153783	HCT-116	colon:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
6	CTCF	chr12:48152709-48153571	GM12878	blood:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
7	HDAC2	chr12:48152552-48153584	MCF-7	breast:	n/a	n/a
8	RUNX3	chr12:48152825-48153646	GM12878	blood:	n/a	n/a
9	CTCF	chr12:48151992-48153868	SK-N-SH	brain:	n/a	chr12:48152289-48152302 chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
10	NFIC	chr12:48151059-48153984	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr12:48151077-48153612	ECC-1	luminal epithelium:	n/a	chr12:48152950-48152963 chr12:48151248-48151257 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
12	TCF12	chr12:48149292-48153761	ECC-1	luminal epithelium:	n/a	chr12:48151904-48151914 chr12:48153083-48153090 chr12:48152062-48152069 chr12:48149639-48149646 chr12:48152628-48152635 chr12:48152630-48152637
13	CTCF	chr12:48152634-48153630	HCT-116	colon:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
14	TCF12	chr12:48150887-48153727	ECC-1	luminal epithelium:	n/a	chr12:48151904-48151914 chr12:48153083-48153090 chr12:48152062-48152069 chr12:48152628-48152635 chr12:48152630-48152637
15	ETS1	chr12:48152702-48153601	K562	blood:	n/a	chr12:48152734-48152745
16	EP300	chr12:48150750-48153828	ECC-1	luminal epithelium:	n/a	chr12:48153612-48153626 chr12:48153099-48153115 chr12:48152632-48152648 chr12:48152971-48152981 chr12:48153189-48153205
17	MAX	chr12:48152264-48153695	A549	lung:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
18	TEAD4	chr12:48150874-48153703	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr12:48152305-48153657	A549	lung:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
20	CTCF	chr12:48152401-48153836	A549	lung:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
21	ZBTB7A	chr12:48151117-48153671	ECC-1	luminal epithelium:	n/a	chr12:48151147-48151161
22	SMARCC1	chr12:48152387-48153633	Hela-S3	cervix:	n/a	chr12:48153007-48153016
23	CTCF	chr12:48152666-48153556	K562	blood:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
24	ELF1	chr12:48152450-48153597	GM12878	blood:	n/a	chr12:48152731-48152743
25	POLR2A	chr12:48151087-48153593	ECC-1	luminal epithelium:	n/a	n/a
26	JUN	chr12:48152038-48153776	K562	blood:	n/a	chr12:48153007-48153016 chr12:48152930-48152938
27	CTCF	chr12:48152589-48153660	K562	blood:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
28	TEAD4	chr12:48153157-48153622	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXM1	chr12:48152234-48153725	ECC-1	luminal epithelium:	n/a	n/a
30	MAZ	chr12:48152493-48153562	K562	blood:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
31	ZNF143	chr12:48152729-48153552	GM12878	blood:	n/a	n/a
32	ZBTB7A	chr12:48150947-48153704	ECC-1	luminal epithelium:	n/a	chr12:48151147-48151161
33	TCF12	chr12:48152289-48153648	A549	lung:	n/a	chr12:48153083-48153090 chr12:48152628-48152635 chr12:48152630-48152637
34	E2F6	chr12:48152246-48153630	A549	lung:	n/a	chr12:48153128-48153135 chr12:48153128-48153135 chr12:48152703-48152712 chr12:48152736-48152745 chr12:48153128-48153135 chr12:48152284-48152296 chr12:48153099-48153109
35	HMGN3	chr12:48152550-48153558	K562	blood:	n/a	n/a
36	RAD21	chr12:48152667-48153579	MCF-7	breast:	n/a	chr12:48153189-48153199 chr12:48152864-48152874 chr12:48153187-48153199 chr12:48152862-48152875
37	USF1	chr12:48152412-48153618	ECC-1	luminal epithelium:	n/a	chr12:48153097-48153113 chr12:48152951-48152962
38	SP1	chr12:48152491-48153565	A549	lung:	n/a	chr12:48152709-48152723 chr12:48152736-48152746 chr12:48152716-48152729 chr12:48152735-48152747 chr12:48152737-48152746 chr12:48152736-48152746 chr12:48153178-48153188 chr12:48152732-48152746 chr12:48153335-48153345 chr12:48152703-48152712 chr12:48152736-48152745 chr12:48153335-48153345 chr12:48153335-48153344 chr12:48152737-48152746 chr12:48152998-48153007 chr12:48152735-48152747
39	JUND	chr12:48152731-48153550	K562	blood:	n/a	chr12:48153007-48153016 chr12:48152930-48152938 chr12:48153006-48153017
40	CTCF	chr12:48152491-48153645	MCF-7	breast:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
41	MAZ	chr12:48151740-48153627	IMR90	lung:	n/a	chr12:48152950-48152963 chr12:48152952-48152961 chr12:48152951-48152962 chr12:48152734-48152744 chr12:48152952-48152962 chr12:48152952-48152962
42	FOXM1	chr12:48152984-48153629	GM12878	blood:	n/a	n/a
43	CTCF	chr12:48152657-48153559	A549	lung:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
44	POLR2A	chr12:48151578-48153617	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr12:48152670-48153592	MCF-7	breast:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
46	RAD21	chr12:48152543-48153594	ECC-1	luminal epithelium:	n/a	chr12:48153189-48153199 chr12:48152864-48152874 chr12:48153187-48153199 chr12:48152629-48152641 chr12:48152862-48152875
47	SP1	chr12:48152483-48153548	A549	lung:	n/a	chr12:48152709-48152723 chr12:48152736-48152746 chr12:48152716-48152729 chr12:48152735-48152747 chr12:48152737-48152746 chr12:48152736-48152746 chr12:48153178-48153188 chr12:48152732-48152746 chr12:48153335-48153345 chr12:48152703-48152712 chr12:48152736-48152745 chr12:48153335-48153345 chr12:48153335-48153344 chr12:48152737-48152746 chr12:48152998-48153007 chr12:48152735-48152747
48	MXI1	chr12:48152430-48153602	IMR90	lung:	n/a	chr12:48152953-48152962 chr12:48152951-48152960 chr12:48152953-48152962
49	EP300	chr12:48151651-48153656	ECC-1	luminal epithelium:	n/a	chr12:48153612-48153626 chr12:48153099-48153115 chr12:48152632-48152648 chr12:48152971-48152981 chr12:48153189-48153205
50	CTCF	chr12:48153400-48153550	GM12867	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48153014..48156848-chr12:48203481..48206772,3	K562	blood:
2	chr12:48151756..48154631-chr12:48166805..48168592,3	MCF-7	breast:
3	chr12:48137493..48138878-chr12:48152464..48153861,18	MCF-7	breast:
4	chr12:48151483..48157972-chr12:48164331..48169743,9	K562	blood:
5	chr12:48115323..48118041-chr12:48153022..48154829,2	MCF-7	breast:
6	chr12:48138994..48139580-chr12:48153253..48153916,2	MCF-7	breast:
7	chr12:48111105..48111630-chr12:48153104..48154150,3	MCF-7	breast:
8	chr12:48151782..48154257-chr12:48166848..48168699,2	MCF-7	breast:
9	chr12:48135721..48136674-chr12:48152904..48153797,3	K562	blood:
10	chr12:48134835..48139182-chr12:48152118..48155732,5	MCF-7	breast:
11	chr12:48097907..48100262-chr12:48151350..48154397,3	K562	blood:
12	chr12:48135691..48136363-chr12:48152705..48153606,3	MCF-7	breast:
13	chr12:48152241..48154431-chr12:48164400..48166889,3	K562	blood:

Variant related genes	Relation type
RAPGEF3	TF binding region
ENSG00000005175	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2525045	1.00[MEX][hapmap]
rs56907417	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61275291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61709815	1.00[AMR][1000 genomes]
rs7308119	1.00[MEX][hapmap]
rs73302698	1.00[AMR][1000 genomes]
rs757283	0.88[YRI][hapmap]
rs7954412	1.00[MEX][hapmap]
rs7967673	1.00[MEX][hapmap]
rs877196	0.82[ASW][hapmap];0.88[YRI][hapmap]
rs877197	0.82[ASW][hapmap];0.88[YRI][hapmap]
rs877198	0.88[YRI][hapmap]
rs879177	0.88[YRI][hapmap]
rs879179	0.88[YRI][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	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	esv3436585	chr12:48153518-48153869	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48149000-48153800	Active TSS	Psoas Muscle	Psoas
2	chr12:48149800-48153600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:48151000-48153600	Flanking Active TSS	Fetal Muscle Leg	muscle
4	chr12:48151000-48154200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:48151200-48153600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:48151200-48153600	Enhancers	Fetal Brain Male	brain
7	chr12:48151200-48153800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr12:48151400-48153600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr12:48151400-48153600	Flanking Active TSS	Placenta	Placenta
10	chr12:48151400-48153600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr12:48151400-48153600	Flanking Active TSS	HMEC	breast
12	chr12:48151600-48153800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr12:48151800-48153800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:48152200-48153600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:48152200-48153600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:48152200-48153600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr12:48152200-48153600	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr12:48152200-48153600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr12:48152200-48153600	Flanking Bivalent TSS/Enh	Dnd41	blood
20	chr12:48152200-48153800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr12:48152400-48153600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:48152400-48153600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:48152400-48153600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:48152400-48153600	Active TSS	Brain Anterior Caudate	brain
25	chr12:48152400-48153600	Active TSS	Colon Smooth Muscle	Colon
26	chr12:48152400-48153600	Active TSS	Small Intestine	intestine
27	chr12:48152400-48153600	Flanking Active TSS	GM12878-XiMat	blood
28	chr12:48152400-48153800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr12:48152400-48153800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:48152600-48153600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:48152600-48153600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:48152600-48153600	Active TSS	Fetal Brain Female	brain
33	chr12:48152600-48153600	Active TSS	HSMM	muscle
34	chr12:48152600-48153600	Active TSS	NHLF	lung
35	chr12:48152600-48153800	Active TSS	Rectal Smooth Muscle	rectum
36	chr12:48152800-48153600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr12:48152800-48153600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr12:48152800-48153600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr12:48153000-48153600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:48153000-48153600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:48153000-48153600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:48153000-48153600	Flanking Active TSS	Liver	Liver
43	chr12:48153000-48153600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:48153000-48153600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr12:48153000-48153600	Flanking Active TSS	Fetal Stomach	stomach
46	chr12:48153000-48153600	Enhancers	Spleen	Spleen
47	chr12:48153000-48153600	Flanking Active TSS	HepG2	liver
48	chr12:48153000-48153800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:48153000-48153800	Flanking Active TSS	HUVEC	blood vessel
50	chr12:48153000-48153800	Flanking Active TSS	NHEK	skin

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