Variant report

Variant	rs73412027
Chromosome Location	chr12:119588313-119588314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58472164	1.00[AMR][1000 genomes]
rs59156247	1.00[AMR][1000 genomes]
rs73405980	1.00[AMR][1000 genomes]
rs73405982	1.00[AMR][1000 genomes]
rs73405986	1.00[AMR][1000 genomes]
rs73405988	1.00[AMR][1000 genomes]
rs73408096	1.00[AMR][1000 genomes]
rs73412021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412047	1.00[AMR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119571200-119594600	Weak transcription	Fetal Brain Male	brain
2	chr12:119583400-119588400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:119583600-119591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:119583800-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:119586000-119588400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:119586000-119590800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:119586200-119588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:119586200-119588600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:119586200-119588800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:119586200-119589200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:119586200-119590800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:119586200-119591000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:119586400-119588400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:119586400-119588400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:119586400-119588400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:119586400-119588600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:119586400-119589000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:119586400-119590600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:119586600-119591200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:119587200-119588400	Weak transcription	Fetal Brain Female	brain
21	chr12:119587600-119588400	Weak transcription	Brain Germinal Matrix	brain
22	chr12:119587600-119588800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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