Variant report

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1041577	0.87[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11839078	0.96[AFR][1000 genomes]
rs11840423	0.86[AFR][1000 genomes]
rs11841787	0.86[AFR][1000 genomes]
rs11842198	0.96[AFR][1000 genomes]
rs11842394	0.92[YRI][hapmap]
rs12583831	0.92[ASN][1000 genomes]
rs1325368	0.83[CHD][hapmap];0.81[GIH][hapmap]
rs17074067	0.92[YRI][hapmap]
rs17074100	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.94[ASN][1000 genomes]
rs17074120	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388239	0.83[CHD][hapmap]
rs3843677	0.83[CHD][hapmap]
rs3843678	0.83[CHD][hapmap]
rs4769782	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs4769783	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61138957	0.94[ASN][1000 genomes]
rs634413	0.82[CHB][hapmap];0.82[CHD][hapmap];0.85[ASN][1000 genomes]
rs646917	0.80[CHB][hapmap];0.85[ASN][1000 genomes]
rs7320271	0.84[CHB][hapmap]
rs7320355	0.83[CHD][hapmap]
rs7339208	0.85[ASN][1000 genomes]
rs73450391	0.86[AFR][1000 genomes]
rs7988422	0.97[ASN][1000 genomes]
rs927733	0.81[CHB][hapmap]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17074118	TPBG	trans	lymphoblastoid	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30514000-30522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30517400-30526000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:30518600-30528600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:30519000-30524000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:30520200-30523000	Weak transcription	Placenta	Placenta
6	chr13:30521600-30523600	Enhancers	Brain Substantia Nigra	brain
7	chr13:30522000-30522600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:30522200-30522400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:30522200-30523000	Enhancers	Pancreas	Pancrea
10	chr13:30522200-30523200	Enhancers	NHLF	lung
11	chr13:30522200-30523600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr13:30522200-30523600	Enhancers	HSMMtube	muscle

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