Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:127251045..127254184-chr5:127417608..127420984,3	MCF-7	breast:
2	chr5:127252681..127255660-chr5:127418721..127420702,2	K562	blood:
3	chr5:127252558..127255088-chr5:127415960..127418621,2	MCF-7	breast:
4	chr5:127247758..127249668-chr5:127252486..127255400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10052229	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477678	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12173229	0.81[ASN][1000 genomes]
rs12173231	0.81[ASN][1000 genomes]
rs12654649	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520246	0.81[ASN][1000 genomes]
rs17164505	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176831	0.84[ASN][1000 genomes]
rs2263502	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2409034	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2409035	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2409036	0.89[ASN][1000 genomes]
rs4835933	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4836341	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4836343	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4836345	0.81[ASN][1000 genomes]
rs56806325	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865186	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6898966	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73331900	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333517	0.81[ASN][1000 genomes]
rs73333527	0.81[ASN][1000 genomes]
rs7711172	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9327457	0.81[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	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127252400-127253800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:127252600-127253600	Enhancers	Primary B cells from peripheral blood	blood
3	chr5:127252600-127253600	Enhancers	GM12878-XiMat	blood
4	chr5:127252600-127253600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:127252800-127253800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:127253000-127253600	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:127253000-127253600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:127253000-127253800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:127253000-127255200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart
11	chr5:127253200-127253600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr5:127253200-127253800	Enhancers	Duodenum Mucosa	Duodenum
13	chr5:127253200-127253800	Enhancers	Ovary	ovary
14	chr5:127253400-127253600	Enhancers	Small Intestine	intestine
15	chr5:127253400-127255400	Weak transcription	Stomach Mucosa	stomach

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