Variant report

Variant	rs1247307
Chromosome Location	chr6:161337379-161337380
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161335842..161338378-chr6:161412199..161414940,2	K562	blood:

Variant related genes	Relation type
ENSG00000272841	Chromatin interaction
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11970528	0.83[ASN][1000 genomes]
rs1247294	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247298	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247299	0.96[ASN][1000 genomes]
rs1247300	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247302	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247305	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247309	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247310	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247312	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1247313	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247316	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247317	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247318	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247319	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247320	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247321	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247322	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247323	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247325	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247326	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1247327	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247328	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1247329	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1247330	0.86[ASN][1000 genomes]
rs1247360	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247361	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247362	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247363	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247364	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1247365	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1663025	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1937474	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2465869	0.81[ASN][1000 genomes]
rs2465870	0.83[ASN][1000 genomes]
rs2465871	0.81[ASN][1000 genomes]
rs2465876	0.87[EUR][1000 genomes]
rs2465877	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2465878	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2489955	0.83[EUR][1000 genomes]
rs2489956	0.80[ASN][1000 genomes]
rs581947	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs585649	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs591676	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62436898	0.95[ASN][1000 genomes]
rs638141	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs687701	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs935182	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs935183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9355851	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9364580	0.90[EUR][1000 genomes];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	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161334200-161347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:161335800-161339400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:161336600-161339000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:161337000-161338800	Weak transcription	Small Intestine	intestine

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