Variant report

Variant	rs12314920
Chromosome Location	chr12:104074151-104074152
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10778277	0.90[EUR][1000 genomes]
rs10861073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10861074	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11111710	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12368532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1593809	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4981017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4981018	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4981031	0.83[CHB][hapmap];0.85[GIH][hapmap]
rs58605677	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs696214	0.92[CEU][hapmap]
rs697202	0.95[CHB][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs697204	0.92[CEU][hapmap]
rs697206	0.92[CEU][hapmap]
rs697207	0.92[CEU][hapmap]
rs7136870	0.95[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs7303939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12314920	PAH	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104065800-104075200	Enhancers	Fetal Intestine Large	intestine
2	chr12:104066800-104074600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:104071600-104074400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:104071600-104074400	Weak transcription	Brain Germinal Matrix	brain
5	chr12:104072200-104074200	Weak transcription	Colonic Mucosa	Colon
6	chr12:104072200-104074200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:104072800-104075200	Enhancers	Fetal Brain Male	brain
8	chr12:104073000-104075800	Enhancers	Fetal Brain Female	brain
9	chr12:104073200-104074600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr12:104073200-104074600	Enhancers	Right Atrium	heart
11	chr12:104073200-104074800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr12:104073200-104075000	Enhancers	Fetal Stomach	stomach
13	chr12:104073200-104075000	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:104073200-104075400	Enhancers	Fetal Heart	heart
15	chr12:104073400-104074800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:104073400-104075000	Enhancers	Colon Smooth Muscle	Colon
17	chr12:104073400-104075000	Enhancers	Fetal Intestine Small	intestine
18	chr12:104073400-104075200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:104073600-104074400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:104073600-104074800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104073800-104074600	Enhancers	Right Ventricle	heart
22	chr12:104073800-104074800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:104073800-104074800	Enhancers	Spleen	Spleen
24	chr12:104073800-104075000	Enhancers	HSMMtube	muscle
25	chr12:104074000-104074800	Enhancers	Fetal Muscle Leg	muscle
26	chr12:104074000-104075200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:104074000-104075800	Enhancers	Stomach Smooth Muscle	stomach

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