Variant report

Variant	rs7956304
Chromosome Location	chr12:121089451-121089452
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	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
2	chr12:121082536..121084918-chr12:121088940..121091677,2	K562	blood:

Variant related genes	Relation type
ENSG00000157782	Chromatin interaction
ENSG00000256008	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10774564	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs10849774	0.84[CHD][hapmap];0.84[JPT][hapmap]
rs11065188	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11065189	0.86[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11065191	0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs11065192	0.86[ASN][1000 genomes]
rs12228187	0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3809310	0.81[CHD][hapmap]
rs3809311	0.84[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7956304	C12orf43	cis	cerebellum	SCAN
rs7956304	GPR109A	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121087200-121091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:121087400-121089800	Active TSS	Left Ventricle	heart
3	chr12:121087600-121090000	Active TSS	Brain Angular Gyrus	brain
4	chr12:121087600-121090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:121087800-121089600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:121088000-121089800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr12:121088200-121090600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:121088200-121092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:121088400-121090600	Weak transcription	GM12878-XiMat	blood
12	chr12:121088600-121090400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:121088600-121090600	Weak transcription	Right Ventricle	heart
14	chr12:121088800-121090000	Enhancers	Placenta	Placenta
15	chr12:121088800-121090600	Weak transcription	Spleen	Spleen
16	chr12:121089000-121089600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121089000-121090800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:121089000-121091600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:121089000-121092400	Enhancers	Colon Smooth Muscle	Colon
20	chr12:121089200-121090000	Enhancers	A549	lung
21	chr12:121089200-121090200	Enhancers	Right Atrium	heart
22	chr12:121089200-121090200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:121089200-121090400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:121089200-121090400	Enhancers	Fetal Stomach	stomach
25	chr12:121089200-121090800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:121089400-121089600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr12:121089400-121089600	Enhancers	Esophagus	oesophagus
28	chr12:121089400-121089600	Bivalent Enhancer	Fetal Lung	lung
29	chr12:121089400-121089800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr12:121089400-121089800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr12:121089400-121089800	Enhancers	Psoas Muscle	Psoas
32	chr12:121089400-121089800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
33	chr12:121089400-121090000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr12:121089400-121090000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:121089400-121090000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:121089400-121090800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:121089400-121091000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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