Variant report

Variant	rs1896140
Chromosome Location	chr12:119585057-119585058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55639526	0.92[EUR][1000 genomes]
rs55818759	0.96[EUR][1000 genomes]
rs73213430	0.92[EUR][1000 genomes]
rs73213433	0.96[EUR][1000 genomes]
rs73213438	0.87[EUR][1000 genomes]
rs73213442	0.85[EUR][1000 genomes]
rs7485049	0.80[EUR][1000 genomes]
rs7486691	0.86[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119571200-119594600	Weak transcription	Fetal Brain Male	brain
2	chr12:119573000-119586000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:119582800-119585800	Weak transcription	Right Atrium	heart
4	chr12:119583000-119586000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:119583000-119587200	Strong transcription	Fetal Brain Female	brain
6	chr12:119583000-119587600	Strong transcription	Brain Germinal Matrix	brain
7	chr12:119583400-119588400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:119583600-119586000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:119583600-119591200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:119583800-119585600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:119583800-119585600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:119583800-119585600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:119583800-119585800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:119583800-119591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:119584000-119585400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:119584000-119585600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:119584000-119585600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:119584000-119587400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:119585000-119585200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:119585000-119585200	Enhancers	Brain Angular Gyrus	brain
21	chr12:119585000-119585600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr12:119585000-119586000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:119585000-119586400	Enhancers	Brain Cingulate Gyrus	brain
24	chr12:119585000-119586400	Enhancers	Brain Hippocampus Middle	brain

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