Variant report

Variant	rs72808218
Chromosome Location	chr2:64052610-64052611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64052304..64056068-chr2:64066396..64069697,6	K562	blood:
2	chr2:64052299..64060510-chr2:64066102..64071144,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10175674	0.98[ASN][1000 genomes]
rs10865342	0.98[ASN][1000 genomes]
rs12466966	0.82[EUR][1000 genomes]
rs12475294	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12988017	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12990604	0.83[EUR][1000 genomes]
rs12993544	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12999675	0.87[EUR][1000 genomes]
rs13009774	0.80[EUR][1000 genomes]
rs13010817	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13028805	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13034260	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1345479	0.87[EUR][1000 genomes]
rs17555655	0.84[EUR][1000 genomes]
rs17620012	0.87[EUR][1000 genomes]
rs2054120	0.84[EUR][1000 genomes]
rs2287361	0.85[EUR][1000 genomes]
rs34145077	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34200806	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs34239752	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34512058	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34900788	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35058898	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35253921	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35521527	0.83[EUR][1000 genomes]
rs35552326	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35972278	0.81[EUR][1000 genomes]
rs35975566	0.83[EUR][1000 genomes]
rs36099158	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3815616	0.87[EUR][1000 genomes]
rs3934536	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4075010	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4482470	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4544421	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4599090	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4671070	0.94[ASN][1000 genomes]
rs4671072	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671537	0.84[EUR][1000 genomes]
rs66476638	0.82[EUR][1000 genomes]
rs66595136	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs66650505	0.82[EUR][1000 genomes]
rs66660401	0.84[EUR][1000 genomes]
rs6710230	0.98[ASN][1000 genomes]
rs67366434	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6757016	0.98[ASN][1000 genomes]
rs67962955	0.83[EUR][1000 genomes]
rs72808216	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808231	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72808248	0.83[EUR][1000 genomes]
rs72808254	0.82[EUR][1000 genomes]
rs72808262	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64041800-64054200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:64044200-64054800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:64045600-64054200	Weak transcription	HSMM	muscle
4	chr2:64046000-64053600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:64046800-64055000	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:64047200-64054800	Weak transcription	Left Ventricle	heart
7	chr2:64047200-64055000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:64047800-64066600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:64048400-64054400	Weak transcription	NHDF-Ad	bronchial
10	chr2:64048400-64054400	Weak transcription	NHLF	lung
11	chr2:64048400-64054600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:64048600-64054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:64048600-64054800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:64048600-64054800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:64048800-64054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:64048800-64054800	Weak transcription	Psoas Muscle	Psoas
17	chr2:64049200-64054400	Weak transcription	HepG2	liver
18	chr2:64049400-64054800	Weak transcription	Liver	Liver
19	chr2:64052400-64053000	Enhancers	Fetal Heart	heart
20	chr2:64052400-64053200	Enhancers	Aorta	Aorta
21	chr2:64052400-64053400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:64052600-64052800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:64052600-64053000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr2:64052600-64054600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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