Variant report

Variant	rs214643
Chromosome Location	chr12:47699025-47699026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47690672..47693396-chr12:47697957..47699729,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1421358	0.91[ASN][1000 genomes]
rs17097704	1.00[JPT][hapmap]
rs17097720	1.00[JPT][hapmap]
rs214644	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214649	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214650	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs214651	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs214652	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs214653	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs214654	0.91[ASN][1000 genomes]
rs214689	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs214690	0.81[EUR][1000 genomes]
rs855121	1.00[AMR][1000 genomes];0.98[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:23 , 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	chr12:47694400-47699400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:47696400-47700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:47696400-47701000	Weak transcription	GM12878-XiMat	blood
7	chr12:47696600-47700800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:47696600-47700800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:47696600-47701400	Weak transcription	K562	blood
10	chr12:47697000-47700200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:47697600-47699200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:47697600-47699800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:47697800-47700000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:47697800-47701200	Weak transcription	Osteobl	bone
15	chr12:47697800-47701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:47697800-47701400	Weak transcription	Esophagus	oesophagus
17	chr12:47698000-47699200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:47698000-47701000	Weak transcription	NH-A	brain
19	chr12:47698200-47701400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:47698400-47699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:47698400-47701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:47698800-47700400	ZNF genes & repeats	A549	lung
23	chr12:47699000-47700400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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