Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:127252681..127255660-chr5:127418721..127420702,2	K562	blood:
2	chr5:127252558..127255088-chr5:127415960..127418621,2	MCF-7	breast:
3	chr5:127247758..127249668-chr5:127252486..127255400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10036951	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10052229	0.95[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10477678	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs10491255	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs12654649	0.84[ASN][1000 genomes]
rs13155003	0.84[EUR][1000 genomes]
rs13166824	0.84[EUR][1000 genomes]
rs13187008	0.84[EUR][1000 genomes]
rs17164505	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs17164526	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs17164533	0.86[EUR][1000 genomes]
rs17164534	0.86[EUR][1000 genomes]
rs17839667	0.86[EUR][1000 genomes]
rs2263502	0.84[ASN][1000 genomes]
rs2409034	0.95[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs2409035	0.85[CHB][hapmap]
rs2409036	0.85[CHB][hapmap]
rs2681509	0.84[ASN][1000 genomes]
rs4836339	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs4836341	0.83[CHB][hapmap]
rs56806325	0.84[ASN][1000 genomes]
rs58316019	0.86[EUR][1000 genomes]
rs6865186	0.84[ASN][1000 genomes]
rs6898966	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs73331900	0.84[ASN][1000 genomes]
rs734642	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs7702027	0.92[EUR][1000 genomes]
rs7708799	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs7711172	0.84[ASN][1000 genomes]
rs7723029	0.85[EUR][1000 genomes]
rs9327454	0.84[EUR][1000 genomes]
rs9327455	0.86[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2176831	HINT1	cis	cerebellum	SCAN
rs2176831	SLC12A2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127253000-127255200	Weak transcription	Fetal Intestine Small	intestine
2	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart
3	chr5:127253400-127255400	Weak transcription	Stomach Mucosa	stomach
4	chr5:127253600-127259000	Weak transcription	GM12878-XiMat	blood
5	chr5:127253800-127261400	Weak transcription	Rectal Mucosa Donor 31	rectum

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