Variant report

Variant	rs72988721
Chromosome Location	chr6:140307307-140307308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139693546..139697103-chr6:140303814..140307360,4	MCF-7	breast:
2	chr6:140305809..140308488-chr6:140308726..140310793,2	K562	blood:
3	chr6:139695253..139697134-chr6:140305426..140307946,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10499217	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10499218	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11751210	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11753982	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11754152	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754864	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11755397	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11758188	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758612	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11758718	0.92[EUR][1000 genomes]
rs11759030	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1324127	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1324129	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13437498	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361247	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582145	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17069692	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214668	0.89[EUR][1000 genomes]
rs17755520	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755892	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17756503	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17756562	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17756688	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17811661	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17811691	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811871	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812354	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812384	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812480	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812617	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812647	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812736	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1933741	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201279	0.89[EUR][1000 genomes]
rs201280	0.90[EUR][1000 genomes]
rs35441484	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477737	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895580	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895581	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4896502	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4896504	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4896505	0.87[EUR][1000 genomes]
rs4896506	0.87[EUR][1000 genomes]
rs496953	0.89[EUR][1000 genomes]
rs55732492	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55738757	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55834276	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55902158	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55907136	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56022257	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56030520	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56202454	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56296431	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58650930	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs593265	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59665575	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597854	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs608185	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs615587	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs638899	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs645740	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs656337	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs656363	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs657276	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs659714	0.92[EUR][1000 genomes]
rs661507	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs671038	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6925609	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72975808	0.89[EUR][1000 genomes]
rs72975814	0.87[EUR][1000 genomes]
rs72988718	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988720	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72988724	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988734	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988736	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988741	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988745	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72988750	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988752	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988753	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988755	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988756	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988758	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988759	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72990622	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72990629	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7769264	0.92[EUR][1000 genomes]
rs9484333	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495619	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495621	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953112	0.97[EUR][1000 genomes];0.89[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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140302800-140311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:140304200-140310600	Weak transcription	Small Intestine	intestine
3	chr6:140304200-140311200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:140304200-140312000	Weak transcription	Fetal Brain Male	brain
5	chr6:140304800-140311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:140305000-140311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:140305200-140311000	Weak transcription	Fetal Kidney	kidney
8	chr6:140305200-140311000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:140305200-140311200	Weak transcription	Adipose Nuclei	Adipose
10	chr6:140305400-140310800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:140305600-140309600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:140305600-140311200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:140305600-140317200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:140305800-140311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:140305800-140311200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:140305800-140311200	Weak transcription	Osteobl	bone
17	chr6:140305800-140311400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:140305800-140312000	Weak transcription	HSMM	muscle
19	chr6:140305800-140312200	Weak transcription	Ovary	ovary
20	chr6:140305800-140312200	Weak transcription	HSMMtube	muscle
21	chr6:140306000-140309800	Weak transcription	NHLF	lung
22	chr6:140306200-140308000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:140306200-140309400	Weak transcription	NHDF-Ad	bronchial
24	chr6:140306200-140311000	Weak transcription	Fetal Intestine Large	intestine
25	chr6:140306200-140312400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:140306400-140308000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:140307200-140311000	Weak transcription	Placenta	Placenta

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