Variant report

Variant	rs1926597
Chromosome Location	chr13:49121306-49121307
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49105684..49108002-chr13:49120297..49122016,3	MCF-7	breast:
2	chr13:49116019..49118411-chr13:49119146..49122086,2	K562	blood:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12583514	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12857866	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1547660	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17071937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1926595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1926596	0.91[ASN][1000 genomes]
rs198564	0.85[ASN][1000 genomes]
rs198568	0.88[ASN][1000 genomes]
rs198571	0.88[ASN][1000 genomes]
rs198574	0.88[ASN][1000 genomes]
rs198575	0.88[ASN][1000 genomes]
rs198576	0.88[ASN][1000 genomes]
rs198577	0.88[ASN][1000 genomes]
rs2148515	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2274400	0.91[ASN][1000 genomes]
rs28414460	0.91[ASN][1000 genomes]
rs28646083	0.91[ASN][1000 genomes]
rs28674973	0.84[ASN][1000 genomes]
rs3092898	0.88[ASN][1000 genomes]
rs3751380	0.97[ASN][1000 genomes]
rs398158	0.85[ASN][1000 genomes]
rs403390	0.88[ASN][1000 genomes]
rs4151479	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151522	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151524	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4151613	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs449268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs61074776	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561448	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561457	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561461	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139763	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7325962	0.83[ASN][1000 genomes]
rs7326934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7329039	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329865	0.84[ASN][1000 genomes]
rs73486867	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73495016	0.88[ASN][1000 genomes]
rs7985825	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7987935	0.91[ASN][1000 genomes]
rs7992129	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995216	0.97[ASN][1000 genomes]
rs7996186	0.91[ASN][1000 genomes]
rs7996402	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998781	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001241	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002565	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316385	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316386	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9316387	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9316396	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9316401	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9331959	0.91[ASN][1000 genomes]
rs9331965	0.88[ASN][1000 genomes]
rs9331973	0.91[ASN][1000 genomes]
rs9331984	1.00[CHB][hapmap]
rs9331994	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9332033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9332044	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9332054	0.83[ASN][1000 genomes]
rs9332055	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9332070	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9591172	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591177	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591178	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595914	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49117200-49124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:49117400-49121800	Weak transcription	Liver	Liver
3	chr13:49117600-49123200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:49118400-49124000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:49119600-49126000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr13:49120800-49123200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr13:49121000-49123200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr13:49121200-49121600	Weak transcription	HepG2	liver

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