Variant report

Variant	rs557962
Chromosome Location	chr7:140779740-140779741
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	chr7:140772357..140774530-chr7:140777823..140780428,2	K562	blood:

Variant related genes	Relation type
ENSG00000261115	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10215245	0.82[ASN][1000 genomes]
rs1044927	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1089264	0.86[ASN][1000 genomes]
rs10952364	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12703284	0.95[ASN][1000 genomes]
rs13234490	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs13236704	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1476816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1533933	0.91[ASN][1000 genomes]
rs17630683	0.80[ASN][1000 genomes]
rs1860720	0.91[ASN][1000 genomes]
rs1961288	1.00[ASN][1000 genomes]
rs2079978	0.91[ASN][1000 genomes]
rs2688430	0.86[ASN][1000 genomes]
rs3805116	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs38715	1.00[CHB][hapmap]
rs38720	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs38722	1.00[CHB][hapmap]
rs38723	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs38726	0.85[CHB][hapmap];1.00[YRI][hapmap]
rs38734	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs38736	0.82[ASN][1000 genomes]
rs38739	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs38740	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs4726225	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs488795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs490810	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs512177	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs528957	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs533441	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544081	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs545121	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55971084	0.82[ASN][1000 genomes]
rs569584	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs579518	1.00[ASN][1000 genomes]
rs6464217	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs6464260	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6464284	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6662	1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs6967214	0.89[ASN][1000 genomes]
rs6971577	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7792447	0.91[ASN][1000 genomes]
rs7801518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs801117	0.86[ASN][1000 genomes]
rs801121	0.86[ASN][1000 genomes]
rs801127	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs801155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs801159	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][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	nsv889248	chr7:140754785-140809205	Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3417140	chr7:140768130-140783190	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs557962	MRPS33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140774800-140783200	Weak transcription	Pancreas	Pancrea
2	chr7:140776800-140782800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:140776800-140783200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:140776800-140783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:140776800-140783200	Weak transcription	Brain Angular Gyrus	brain
6	chr7:140776800-140783200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:140776800-140783200	Weak transcription	Fetal Brain Male	brain
8	chr7:140777000-140785000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:140778000-140793200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:140778600-140781800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:140778600-140782000	Weak transcription	Brain Germinal Matrix	brain
12	chr7:140778800-140783200	Weak transcription	Psoas Muscle	Psoas
13	chr7:140778800-140794400	Weak transcription	Fetal Brain Female	brain

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