Variant report

Variant	rs1564892
Chromosome Location	chr12:104445742-104445743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104440677..104443075-chr12:104444552..104446147,2	K562	blood:
2	chr12:104359553..104362361-chr12:104443780..104446717,2	K562	blood:

Variant related genes	Relation type
ENSG00000139372	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12427086	0.88[ASN][1000 genomes]
rs17035129	0.94[JPT][hapmap]
rs17035153	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1843371	0.84[MEX][hapmap]
rs1920410	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs1920412	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs2583230	0.91[CHD][hapmap];0.94[JPT][hapmap]
rs2629751	0.81[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2629798	0.91[CHD][hapmap];0.94[JPT][hapmap]
rs2722170	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2722175	0.90[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs2723867	0.82[ASN][1000 genomes]
rs55675238	0.82[ASN][1000 genomes]
rs55997300	0.82[ASN][1000 genomes]
rs56269347	0.96[ASN][1000 genomes]
rs57041861	0.89[ASN][1000 genomes]
rs7358625	0.91[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Corneal structure	23291589	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1564892	UNC13B	trans	cerebellum	SCAN
rs1564892	UHRF1BP1L	cis	cerebellum	SCAN
rs1564892	DRAM1	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104444000-104449000	Weak transcription	Pancreas	Pancrea
2	chr12:104444200-104449400	Weak transcription	Liver	Liver
3	chr12:104444400-104448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:104444400-104448600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:104444400-104449200	Weak transcription	Fetal Heart	heart
6	chr12:104444400-104457400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:104444600-104447800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:104444600-104448400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:104444600-104448400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:104444600-104448400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:104444600-104448800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:104444600-104449000	Weak transcription	Ovary	ovary
13	chr12:104444600-104449200	Weak transcription	NHLF	lung
14	chr12:104444600-104449400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:104444600-104449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:104444600-104449600	Weak transcription	Fetal Lung	lung
17	chr12:104444600-104449600	Weak transcription	HSMM	muscle
18	chr12:104444600-104449600	Weak transcription	HSMMtube	muscle
19	chr12:104444600-104449800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:104444600-104449800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:104444600-104451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:104444600-104451600	Weak transcription	HMEC	breast
23	chr12:104444800-104448400	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:104444800-104449000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:104444800-104449400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104444800-104452600	Weak transcription	Placenta	Placenta
27	chr12:104445000-104448600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:104445000-104448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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