Variant report

Variant	rs73945294
Chromosome Location	chr2:86643158-86643159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86641991..86643498-chr2:86646845..86648802,2	K562	blood:
2	chr2:86641734..86643433-chr2:86651305..86653609,2	MCF-7	breast:
3	chr2:86642398..86644013-chr2:86668409..86669929,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10181540	0.86[EUR][1000 genomes]
rs1105862	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1105863	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1105864	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276624	1.00[EUR][1000 genomes]
rs3731811	1.00[EUR][1000 genomes]
rs3821013	1.00[EUR][1000 genomes]
rs41318646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58449699	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58740162	0.90[ASN][1000 genomes]
rs58914241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59064682	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59714766	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61748134	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6547681	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547683	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547684	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707865	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6709505	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6730867	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6731264	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6731801	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6736342	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6744590	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6748880	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6756078	0.90[EUR][1000 genomes]
rs72928446	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73949503	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73949512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7568093	0.90[EUR][1000 genomes]
rs7574555	0.90[EUR][1000 genomes]
rs870372	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs870373	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs870374	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs870375	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs949922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86641200-86643200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:86641200-86643400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:86641200-86644600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:86641200-86644800	Weak transcription	Psoas Muscle	Psoas
5	chr2:86641200-86645600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr2:86641400-86643200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr2:86641400-86643400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:86641400-86644800	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:86641400-86645600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:86641800-86645400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:86642400-86644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:86642400-86644800	Weak transcription	NHEK	skin
13	chr2:86642600-86644800	Weak transcription	HSMM	muscle
14	chr2:86642800-86643200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:86642800-86643600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr2:86643000-86644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:86643000-86648400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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