Variant report

Variant	rs12230823
Chromosome Location	chr12:122419510-122419511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122419365..122421513-chr12:122466163..122468621,2	K562	blood:
2	chr12:122417398..122419986-chr12:122423812..122426379,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10431199	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840642	0.90[EUR][1000 genomes]
rs11043255	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043277	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043285	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043286	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043290	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043292	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11043295	0.97[ASN][1000 genomes]
rs11829607	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34768683	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4069668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56040016	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56122558	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56142842	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58326739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59922210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137708	0.85[EUR][1000 genomes]
rs7138296	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73415674	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415687	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73415696	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7961660	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971538	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978386	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122409800-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:122409800-122428400	Weak transcription	NHEK	skin
6	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:122413200-122428800	Weak transcription	HSMMtube	muscle
9	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
10	chr12:122415400-122428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122417000-122419600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:122417000-122422800	Enhancers	Fetal Thymus	thymus
13	chr12:122417200-122419800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:122417200-122419800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:122418000-122419600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:122418200-122422800	Enhancers	Primary B cells from cord blood	blood
17	chr12:122418400-122427000	Weak transcription	Fetal Stomach	stomach
18	chr12:122418600-122423000	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:122418800-122420800	Weak transcription	Thymus	Thymus
20	chr12:122418800-122421400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
22	chr12:122419000-122419800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:122419000-122420200	Enhancers	GM12878-XiMat	blood
24	chr12:122419000-122421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122419000-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122419400-122419800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:122419400-122421000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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