Variant report

Variant	rs10507192
Chromosome Location	chr12:105948247-105948248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105942937..105945228-chr12:105946736..105948903,2	K562	blood:
2	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-6	chr12:105946682-105953346	NONHSAT030458

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10507194	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10778413	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10778414	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112585	0.89[ASN][1000 genomes]
rs11112586	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11112587	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11112588	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11112589	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112590	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112591	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112592	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12296355	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12305225	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12307351	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12316204	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12321309	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12371537	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12580741	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17037308	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17037312	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17037317	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17041546	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2374502	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4015312	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55646142	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58066965	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59504344	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60865625	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61200462	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61645733	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6539218	0.88[ASN][1000 genomes]
rs66754070	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68053161	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7299470	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73184077	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73184078	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73184081	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73184083	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73184084	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956435	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959699	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969390	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969416	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969421	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969556	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs871219	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs871220	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941101	0.95[EUR][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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10507192	ASCL1	cis	cerebellum	SCAN
rs10507192	PAH	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
2	chr12:105945400-105955000	Weak transcription	HSMMtube	muscle
3	chr12:105946000-105949200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:105947200-105948600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:105947200-105949400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:105947200-105950000	Enhancers	Hela-S3	cervix
7	chr12:105947400-105948400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:105947400-105948800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:105947600-105948600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:105947600-105948600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:105947600-105949000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:105947800-105948400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:105947800-105948400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:105947800-105948600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:105947800-105948800	Enhancers	Fetal Kidney	kidney
16	chr12:105948000-105948400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:105948000-105948400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:105948000-105948400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:105948000-105948400	Enhancers	Right Ventricle	heart
20	chr12:105948000-105948600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:105948000-105948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:105948000-105949000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:105948200-105948800	Flanking Active TSS	HUVEC	blood vessel
24	chr12:105948200-105954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:105948200-105955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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