Variant report

Variant	rs214644
Chromosome Location	chr12:47699990-47699991
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1421358	0.91[ASN][1000 genomes]
rs214643	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214646	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214647	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214649	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214650	0.81[AMR][1000 genomes]
rs214651	0.91[ASN][1000 genomes]
rs214652	0.91[ASN][1000 genomes]
rs214653	0.91[ASN][1000 genomes]
rs214654	0.91[ASN][1000 genomes]
rs214689	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs855121	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs855128	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47693400-47701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47694200-47700600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:47694200-47700800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:47696400-47700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:47696400-47701000	Weak transcription	GM12878-XiMat	blood
6	chr12:47696600-47700800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:47696600-47700800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:47696600-47701400	Weak transcription	K562	blood
9	chr12:47697000-47700200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:47697800-47700000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:47697800-47701200	Weak transcription	Osteobl	bone
12	chr12:47697800-47701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:47697800-47701400	Weak transcription	Esophagus	oesophagus
14	chr12:47698000-47701000	Weak transcription	NH-A	brain
15	chr12:47698200-47701400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:47698400-47701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:47698800-47700400	ZNF genes & repeats	A549	lung
18	chr12:47699000-47700400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
19	chr12:47699200-47700200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr12:47699200-47700200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:47699400-47700200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:47699400-47700800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:47699600-47700800	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr12:47699800-47700400	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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