Variant report

Variant	rs4768778
Chromosome Location	chr12:47580826-47580827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10736032	0.86[EUR][1000 genomes]
rs10785664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10785665	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785667	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785668	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10881066	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10881067	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10881068	0.83[ASN][1000 genomes]
rs10881069	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10881070	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10881072	0.87[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1404817	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1404818	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768143	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768779	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768780	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768781	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768783	0.85[CEU][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv976743	chr12:47573169-47582750	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47550600-47582400	Weak transcription	Aorta	Aorta
2	chr12:47551200-47583600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:47557800-47581600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:47558800-47582200	Weak transcription	NH-A	brain
5	chr12:47558800-47582400	Weak transcription	Lung	lung
6	chr12:47559000-47582200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:47566600-47582400	Weak transcription	HSMM	muscle
8	chr12:47570600-47582800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:47571200-47581600	Weak transcription	Primary T cells from cord blood	blood
10	chr12:47574200-47582400	Weak transcription	Spleen	Spleen
11	chr12:47576000-47582400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:47576200-47582200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:47576800-47581000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:47578000-47582400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:47578200-47587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:47578400-47583800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:47579200-47581800	Weak transcription	Liver	Liver
18	chr12:47579200-47583400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:47579200-47584000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:47579400-47582200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:47579400-47582200	Weak transcription	A549	lung
22	chr12:47579400-47582400	Weak transcription	Pancreas	Pancrea
23	chr12:47579400-47583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:47579400-47583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:47579400-47584200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:47579400-47584400	Weak transcription	Esophagus	oesophagus
27	chr12:47579600-47581000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:47579600-47582400	Weak transcription	NHEK	skin
29	chr12:47579600-47583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:47579800-47583000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:47579800-47583600	Weak transcription	HMEC	breast
32	chr12:47580200-47581000	Strong transcription	Primary B cells from cord blood	blood
33	chr12:47580200-47582400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:47580200-47584400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:47580400-47581000	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:47580400-47581400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr12:47580400-47584000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:47580400-47584400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr12:47580600-47582400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:47580600-47583000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:47580800-47582200	Weak transcription	K562	blood
42	chr12:47580800-47585600	Enhancers	Primary T helper cells fromperipheralblood	blood

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