Variant report

Variant	rs750652
Chromosome Location	chr20:23159973-23159974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23159717..23162468-chr20:23166819..23168990,2	MCF-7	breast:
2	chr20:23009895..23012864-chr20:23158495..23160827,2	K562	blood:
3	chr20:23028945..23029562-chr20:23159594..23160287,2	MCF-7	breast:
4	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
5	chr20:23133916..23136553-chr20:23158776..23161352,2	K562	blood:
6	chr20:23105413..23107552-chr20:23159018..23161237,2	K562	blood:

Variant related genes	Relation type
ENSG00000234646	Chromatin interaction
ENSG00000230387	Chromatin interaction
ENSG00000230492	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1005856	0.83[AMR][1000 genomes]
rs1099456	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11696272	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1338942	0.97[ASN][1000 genomes]
rs1338944	0.87[ASN][1000 genomes]
rs1416399	0.86[ASN][1000 genomes]
rs1538445	0.87[AMR][1000 genomes]
rs1538446	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1572707	0.85[ASN][1000 genomes]
rs1856470	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024897	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036338	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048590	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048591	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048592	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048595	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048612	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6048615	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048618	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048619	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6076038	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6076039	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6076041	0.87[ASN][1000 genomes]
rs6083030	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6083032	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6083033	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083036	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083038	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6083042	0.94[ASN][1000 genomes]
rs6083043	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6106616	0.82[AMR][1000 genomes]
rs6113992	0.83[AMR][1000 genomes]
rs6132576	0.83[AMR][1000 genomes]
rs6132577	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6132578	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6132579	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62206882	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62206883	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8118328	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844924	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844929	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844930	1.00[ASN][1000 genomes]
rs844932	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844934	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844935	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs844936	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844937	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844940	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844941	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs844942	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs867909	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs870225	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2756735	chr20:23146607-23179604	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23158600-23160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr20:23158600-23160000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:23158600-23160600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:23158600-23161400	Enhancers	Spleen	Spleen
5	chr20:23158600-23161800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr20:23158600-23161800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr20:23158600-23161800	Enhancers	K562	blood
8	chr20:23158800-23160000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr20:23158800-23161800	Enhancers	HUVEC	blood vessel
10	chr20:23159000-23160000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr20:23159000-23162000	Enhancers	Placenta	Placenta
12	chr20:23159200-23160600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:23159200-23160600	Weak transcription	Left Ventricle	heart
14	chr20:23159200-23160600	Weak transcription	Ovary	ovary
15	chr20:23159200-23161200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr20:23159400-23160000	Enhancers	Psoas Muscle	Psoas
17	chr20:23159400-23160600	Weak transcription	Fetal Muscle Leg	muscle
18	chr20:23159400-23160600	Weak transcription	Lung	lung
19	chr20:23159400-23161200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr20:23159600-23160800	Weak transcription	Right Atrium	heart
21	chr20:23159600-23161000	Weak transcription	Adipose Nuclei	Adipose
22	chr20:23159600-23162000	Enhancers	Dnd41	blood
23	chr20:23159800-23160200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr20:23159800-23160400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr20:23159800-23160600	Weak transcription	Right Ventricle	heart
26	chr20:23159800-23161000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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