Variant report

Variant	rs55639526
Chromosome Location	chr12:119593706-119593707
allele	A/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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1896140	0.92[EUR][1000 genomes]
rs55818759	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73213430	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73213433	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73213438	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73213442	0.87[EUR][1000 genomes]
rs7485049	0.82[EUR][1000 genomes]
rs7486691	0.85[AFR][1000 genomes];0.88[EUR][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:30 , 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	chr12:119591200-119594600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr12:119591800-119594600	Strong transcription	Brain Germinal Matrix	brain
8	chr12:119592000-119594200	Weak transcription	Left Ventricle	heart
9	chr12:119592000-119594400	Weak transcription	Right Ventricle	heart
10	chr12:119592000-119595000	Weak transcription	Lung	lung
11	chr12:119592000-119595200	Weak transcription	Fetal Heart	heart
12	chr12:119592000-119597000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:119592400-119594000	Weak transcription	Placenta	Placenta
14	chr12:119592400-119594000	Weak transcription	K562	blood
15	chr12:119592600-119593800	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:119592600-119594400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:119592800-119593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:119592800-119595000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:119592800-119603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:119593000-119594000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:119593000-119594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:119593000-119594400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:119593000-119597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:119593200-119597400	Enhancers	HSMMtube	muscle
25	chr12:119593400-119594200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:119593400-119594600	Weak transcription	Right Atrium	heart
27	chr12:119593400-119595000	Weak transcription	Fetal Brain Female	brain
28	chr12:119593400-119595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:119593600-119594200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:119593600-119594200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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