Variant report

Variant	rs4148553
Chromosome Location	chr13:95673135-95673136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ABCC4	hsa-miR-23b-3p	chr13:95673121-95673141

Variant related genes	Relation type
ABCC4	miRNA target site

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1059751	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12864504	1.00[ASN][1000 genomes]
rs12869863	0.98[ASN][1000 genomes]
rs2148070	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742106	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148542	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs4148544	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs4148546	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs4148549	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4148551	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4771904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773838	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59600142	0.98[ASN][1000 genomes]
rs61530740	0.98[ASN][1000 genomes]
rs7318327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330196	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7331508	1.00[ASN][1000 genomes]
rs9302039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9524769	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]

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	nsv832688	chr13:95633193-95780198	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv525194	chr13:95672950-95737192	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4148553	DZIP1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95655600-95722600	Weak transcription	Gastric	stomach
2	chr13:95661400-95694000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:95666800-95681800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:95668600-95712000	Weak transcription	NHDF-Ad	bronchial
5	chr13:95669000-95680000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:95669000-95686400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:95669400-95686000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:95669400-95690800	Weak transcription	Ovary	ovary
9	chr13:95669400-95723200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr13:95669600-95686200	Weak transcription	NHLF	lung
11	chr13:95669600-95692000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr13:95669600-95744000	Weak transcription	Small Intestine	intestine
13	chr13:95670000-95690600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:95670200-95677400	Weak transcription	HSMM	muscle
15	chr13:95671200-95675400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:95671400-95690800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr13:95671400-95690800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:95671400-95722200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:95671600-95673800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr13:95671600-95688600	Weak transcription	Right Ventricle	heart
21	chr13:95671600-95692200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr13:95672000-95675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:95672200-95673200	Enhancers	HMEC	breast
24	chr13:95672200-95673200	Strong transcription	K562	blood
25	chr13:95672200-95673400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr13:95672400-95673200	Enhancers	NH-A	brain
27	chr13:95672400-95673200	Enhancers	NHEK	skin
28	chr13:95672600-95673200	Strong transcription	Primary T cells from cord blood	blood
29	chr13:95672600-95673200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:95672600-95673600	Strong transcription	GM12878-XiMat	blood
31	chr13:95672600-95686600	Weak transcription	A549	lung
32	chr13:95672800-95729000	Weak transcription	Colonic Mucosa	Colon
33	chr13:95673000-95675200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr13:95673000-95688600	Weak transcription	HSMMtube	muscle

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