Variant report

Variant	rs12427155
Chromosome Location	chr12:119593381-119593382
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	chr12:119593060..119595658-chr12:119595744..119597599,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11832465	0.93[ASN][1000 genomes]
rs12425637	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1365435	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1365436	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1365437	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1365438	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28393384	1.00[ASN][1000 genomes]
rs3809302	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58816345	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60934609	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7134341	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119571200-119594600	Weak transcription	Fetal Brain Male	brain
2	chr12:119589800-119594200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:119589800-119595000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:119589800-119598200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:119590000-119595200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:119590600-119593400	Strong transcription	Fetal Brain Female	brain
7	chr12:119591200-119594600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr12:119591800-119594600	Strong transcription	Brain Germinal Matrix	brain
9	chr12:119592000-119594200	Weak transcription	Left Ventricle	heart
10	chr12:119592000-119594400	Weak transcription	Right Ventricle	heart
11	chr12:119592000-119595000	Weak transcription	Lung	lung
12	chr12:119592000-119595200	Weak transcription	Fetal Heart	heart
13	chr12:119592000-119597000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:119592400-119593400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:119592400-119594000	Weak transcription	Placenta	Placenta
16	chr12:119592400-119594000	Weak transcription	K562	blood
17	chr12:119592600-119593400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:119592600-119593800	Enhancers	Fetal Muscle Trunk	muscle
19	chr12:119592600-119594400	Enhancers	Fetal Muscle Leg	muscle
20	chr12:119592800-119593400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:119592800-119593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:119592800-119595000	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:119592800-119603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:119593000-119594000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:119593000-119594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:119593000-119594400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr12:119593000-119597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:119593200-119593400	Enhancers	Right Atrium	heart
29	chr12:119593200-119593600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:119593200-119593600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:119593200-119597400	Enhancers	HSMMtube	muscle

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