Variant report

Variant	rs55649919
Chromosome Location	chr12:46981971-46981972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11183500	1.00[EUR][1000 genomes]
rs11183510	1.00[EUR][1000 genomes]
rs11183512	1.00[EUR][1000 genomes]
rs11183513	1.00[EUR][1000 genomes]
rs11830080	1.00[AMR][1000 genomes]
rs11830086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs11837634	1.00[AMR][1000 genomes]
rs12296783	1.00[EUR][1000 genomes]
rs12317179	1.00[EUR][1000 genomes]
rs12321960	1.00[EUR][1000 genomes]
rs17096996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2408578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34098443	1.00[EUR][1000 genomes]
rs3935048	1.00[EUR][1000 genomes]
rs55698768	1.00[AMR][1000 genomes]
rs56160202	1.00[AMR][1000 genomes]
rs59451063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60325164	1.00[AMR][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[AMR][1000 genomes]
rs74082263	1.00[AMR][1000 genomes]
rs74082274	1.00[AMR][1000 genomes]
rs74082433	1.00[AMR][1000 genomes]
rs74082454	1.00[AMR][1000 genomes]
rs74083751	1.00[AMR][1000 genomes]
rs74083758	1.00[AMR][1000 genomes]
rs74084124	1.00[AMR][1000 genomes]
rs74085404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085442	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085444	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74085447	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7975472	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7980023	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv3402095	chr12:46937340-46983181	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1811918	chr12:46965257-47033254	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46972400-46984400	Weak transcription	NHEK	skin
2	chr12:46973600-46985200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:46980000-46984600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:46980000-46984800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:46980000-46989000	Weak transcription	Primary B cells from cord blood	blood
6	chr12:46980200-46984600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:46980200-46984600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:46980200-46984800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:46980200-46984800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:46980200-46984800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:46980200-46984800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:46980200-46984800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:46980200-46984800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:46980200-46984800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:46980200-46984800	Weak transcription	Esophagus	oesophagus
16	chr12:46980200-46985000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:46980200-46985000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:46980200-46986800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:46980200-46995600	Weak transcription	Gastric	stomach
20	chr12:46980200-47002000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:46980200-47002200	Weak transcription	Thymus	Thymus
22	chr12:46980200-47002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:46980400-46984400	Weak transcription	HepG2	liver
24	chr12:46980400-46995000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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