Variant report

Variant	rs4768733
Chromosome Location	chr12:46929835-46929836
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	FOXA1	chr12:46929717-46930215	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:46929735-46930107	HepG2	liver:	n/a	n/a
3	ATF1	chr12:46929820-46929952	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:46927349..46929035-chr12:46929088..46931055,2	MCF-7	breast:
2	chr12:46923809..46925445-chr12:46927619..46930546,2	K562	blood:
3	chr12:46766228..46769097-chr12:46928129..46930595,2	K562	blood:

Variant related genes	Relation type
ENSG00000272369	TF binding region
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1008637	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs10880974	0.95[CEU][hapmap]
rs11183502	0.95[CEU][hapmap]
rs11183503	0.91[CEU][hapmap]
rs11183504	0.95[CEU][hapmap]
rs11837427	0.95[CEU][hapmap]
rs12313929	0.95[CEU][hapmap]
rs2252238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2430945	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768726	0.90[CEU][hapmap]
rs4768727	0.95[CEU][hapmap]
rs4768728	0.95[CEU][hapmap]
rs4768729	0.95[CEU][hapmap]
rs4768730	0.95[CEU][hapmap]
rs4768737	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6582659	0.95[CEU][hapmap]
rs6582661	0.95[CEU][hapmap]
rs6582663	0.95[CEU][hapmap]
rs7486915	0.95[CEU][hapmap]
rs7488144	0.95[CEU][hapmap]
rs7488577	0.95[CEU][hapmap]
rs7954645	0.95[CEU][hapmap]
rs7956314	0.95[CEU][hapmap]
rs7960808	0.95[CEU][hapmap]
rs7964767	0.95[CEU][hapmap]
rs7980455	0.95[CEU][hapmap]
rs9706162	0.95[CEU][hapmap]
rs9706460	0.95[CEU][hapmap]
rs9706520	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46925200-46940600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:46925400-46930600	Weak transcription	Right Ventricle	heart
3	chr12:46925400-46939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:46925400-46940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46925600-46940000	Weak transcription	NHEK	skin
6	chr12:46925800-46940200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:46926400-46939000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:46927400-46930400	Enhancers	Fetal Intestine Small	intestine
9	chr12:46927600-46930800	Enhancers	K562	blood
10	chr12:46927600-46933000	Enhancers	Fetal Muscle Leg	muscle
11	chr12:46927600-46933600	Enhancers	Fetal Heart	heart
12	chr12:46927800-46930400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:46928000-46930000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:46928400-46948600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:46928600-46930000	Enhancers	Fetal Intestine Large	intestine
16	chr12:46928600-46931200	Weak transcription	Psoas Muscle	Psoas
17	chr12:46928800-46932800	Weak transcription	Ovary	ovary
18	chr12:46929000-46930200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:46929000-46933400	Enhancers	HepG2	liver
20	chr12:46929200-46930000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:46929400-46930800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:46929400-46930800	Enhancers	Right Atrium	heart
23	chr12:46929600-46930200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:46929600-46930400	Enhancers	Left Ventricle	heart
25	chr12:46929600-46930600	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:46929600-46930600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr12:46929600-46930800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:46929600-46933800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr12:46929800-46930000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:46929800-46930200	Enhancers	A549	lung
31	chr12:46929800-46930400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:46929800-46930400	Enhancers	Fetal Thymus	thymus
33	chr12:46929800-46930600	Enhancers	Primary B cells from cord blood	blood
34	chr12:46929800-46930600	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:46929800-46930800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:46929800-46930800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:46929800-46931000	Enhancers	GM12878-XiMat	blood
38	chr12:46929800-46931400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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