Variant report

Variant	rs523011
Chromosome Location	chr12:118815409-118815410
allele	C/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	MXI1	chr12:118813805-118816254	IMR90	lung:	n/a	chr12:118814375-118814390
2	CTCF	chr12:118814704-118816448	A549	lung:	n/a	chr12:118815883-118815896 chr12:118815880-118815898 chr12:118815882-118815903 chr12:118815881-118815897 chr12:118815883-118815896 chr12:118815885-118815895
3	MAZ	chr12:118815301-118816040	K562	blood:	n/a	n/a
4	EP300	chr12:118815073-118816027	K562	blood:	n/a	chr12:118815503-118815517
5	CTCF	chr12:118815380-118815530	GM12874	blood:	n/a	n/a
6	CTCF	chr12:118813637-118816237	SK-N-SH	brain:	n/a	chr12:118815883-118815896 chr12:118814059-118814072 chr12:118815880-118815898 chr12:118815882-118815903 chr12:118814059-118814072 chr12:118814058-118814074 chr12:118815881-118815897 chr12:118815883-118815896 chr12:118815885-118815895
7	CTCF	chr12:118815320-118815470	AG09309	skin:	n/a	n/a
8	RAD21	chr12:118815374-118816090	IMR90	lung:	n/a	chr12:118815881-118815900 chr12:118815882-118815896
9	CTCF	chr12:118815400-118815550	AoAF	blood vessel:	n/a	n/a
10	CTCF	chr12:118815340-118815490	GM12872	blood:	n/a	n/a
11	MAZ	chr12:118813894-118815983	GM12878	blood:	n/a	n/a
12	SIN3A	chr12:118813732-118816005	H1-hESC	embryonic stem cell:	n/a	chr12:118814470-118814483
13	MYC	chr12:118815352-118815484	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFK	chr12:118815260-118816093	K562	blood:	n/a	n/a
15	MXI1	chr12:118815163-118816117	GM12878	blood:	n/a	n/a
16	SMC3	chr12:118815279-118816269	SK-N-SH	brain:	n/a	chr12:118815882-118815896
17	CTCF	chr12:118815400-118815550	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118706508..118709045-chr12:118814586..118816680,2	MCF-7	breast:
2	chr12:118602460..118604625-chr12:118813262..118815515,3	MCF-7	breast:
3	chr12:118573153..118575288-chr12:118813964..118815499,2	K562	blood:
4	chr12:118796352..118799029-chr12:118814094..118816699,2	K562	blood:
5	chr12:118795944..118799029-chr12:118813367..118816891,5	K562	blood:
6	chr12:118558650..118559238-chr12:118815357..118816296,2	MCF-7	breast:
7	chr12:118601731..118605413-chr12:118811549..118815749,6	MCF-7	breast:
8	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
9	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
10	chr12:118814110..118815934-chr12:120730037..120732286,2	MCF-7	breast:
11	chr12:118558400..118559211-chr12:118815373..118815934,2	K562	blood:

Variant related genes	Relation type
TAOK3	TF binding region
ENSG00000270482	TF binding region
ENSG00000135090	Chromatin interaction
ENSG00000221280	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1092854	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs1151901	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1277175	0.86[CHB][hapmap]
rs2062522	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs353887	0.82[CEU][hapmap];0.85[CHB][hapmap]
rs353896	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs364823	0.85[CEU][hapmap];0.85[CHB][hapmap]
rs404566	0.85[CHB][hapmap]
rs410747	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs418941	0.82[CEU][hapmap];0.80[CHB][hapmap]
rs484838	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492939	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494005	0.83[ASN][1000 genomes]
rs503548	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs571113	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs575121	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs7136004	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7307953	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs7795	0.90[CHB][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs793596	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr12:118813200-118816000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:118813400-118816400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr12:118813600-118815600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr12:118813600-118815600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:118813600-118815600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:118813600-118815600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:118813600-118815600	Active TSS	HSMMtube	muscle
8	chr12:118813600-118816200	Active TSS	NHLF	lung
9	chr12:118813800-118815600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:118813800-118815600	Active TSS	Aorta	Aorta
11	chr12:118813800-118815600	Active TSS	Esophagus	oesophagus
12	chr12:118813800-118815600	Active TSS	Ovary	ovary
13	chr12:118813800-118815600	Active TSS	Right Atrium	heart
14	chr12:118813800-118815600	Active TSS	Right Ventricle	heart
15	chr12:118813800-118815600	Active TSS	NHDF-Ad	bronchial
16	chr12:118813800-118815800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:118813800-118815800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:118813800-118815800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:118813800-118815800	Active TSS	Gastric	stomach
20	chr12:118813800-118815800	Active TSS	Small Intestine	intestine
21	chr12:118813800-118816000	Active TSS	Fetal Kidney	kidney
22	chr12:118814000-118815600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:118814000-118815600	Active TSS	Lung	lung
24	chr12:118814000-118815600	Active TSS	Pancreas	Pancrea
25	chr12:118814000-118815600	Active TSS	HSMM	muscle
26	chr12:118814000-118815800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:118814000-118815800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:118814000-118815800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:118814000-118815800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:118814000-118815800	Active TSS	Fetal Muscle Trunk	muscle
31	chr12:118814000-118816000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr12:118814000-118816000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr12:118814000-118816000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:118814000-118816000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:118814000-118816000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:118814000-118816200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:118814000-118816200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:118814000-118816200	Active TSS	Brain Angular Gyrus	brain
39	chr12:118814600-118815800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:118814800-118815800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr12:118814800-118815800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr12:118814800-118815800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr12:118814800-118815800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr12:118814800-118815800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:118814800-118815800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:118814800-118815800	Flanking Active TSS	Placenta	Placenta
47	chr12:118814800-118816000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:118814800-118816000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr12:118814800-118816000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr12:118814800-118816000	Flanking Active TSS	Primary B cells from cord blood	blood

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