Variant report

Variant	rs214658
Chromosome Location	chr12:47710083-47710084
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	chr12:47701535..47703757-chr12:47709267..47711151,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1549089	0.96[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs214655	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs214656	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768793	0.95[AFR][1000 genomes]
rs4768794	0.91[AFR][1000 genomes]
rs855127	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv522275	chr12:47707836-47718183	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47701800-47710400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:47702000-47710400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:47702000-47710400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:47702000-47710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:47704600-47710800	Enhancers	Liver	Liver
6	chr12:47705200-47712200	Enhancers	Primary B cells from peripheral blood	blood
7	chr12:47705400-47712800	Weak transcription	Spleen	Spleen
8	chr12:47705800-47711000	Enhancers	Primary B cells from cord blood	blood
9	chr12:47706400-47710400	Enhancers	A549	lung
10	chr12:47706800-47710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:47706800-47710600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:47707000-47710600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:47707200-47710400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:47707200-47710400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:47707200-47710400	Weak transcription	K562	blood
16	chr12:47707400-47710400	Weak transcription	GM12878-XiMat	blood
17	chr12:47707600-47710400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:47708000-47710800	Weak transcription	Pancreas	Pancrea
19	chr12:47708600-47710400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:47709000-47710600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:47709200-47727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:47709600-47710600	Enhancers	HUVEC	blood vessel
23	chr12:47709800-47710400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:47710000-47711400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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