Variant report

Variant	rs28650441
Chromosome Location	chr8:59448217-59448218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59384822..59386682-chr8:59446581..59449545,2	K562	blood:
2	chr8:59447309..59450052-chr8:59455909..59457687,2	MCF-7	breast:
3	chr8:59447800..59450426-chr8:59464747..59467187,4	K562	blood:

Variant related genes	Relation type
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10085973	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090425	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10090964	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10092359	0.88[EUR][1000 genomes]
rs10094910	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099153	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099240	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10099912	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10100873	0.89[EUR][1000 genomes]
rs10102709	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10104292	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10104568	0.80[ASN][1000 genomes]
rs10106272	0.83[EUR][1000 genomes]
rs10110065	0.85[EUR][1000 genomes]
rs10110111	0.96[EUR][1000 genomes]
rs10111052	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10111506	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113750	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10504256	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1050488	0.84[EUR][1000 genomes]
rs1050504	0.89[EUR][1000 genomes]
rs11774558	0.81[EUR][1000 genomes]
rs11775194	0.85[EUR][1000 genomes]
rs11776003	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11783174	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11785141	0.81[EUR][1000 genomes]
rs12335008	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12541539	0.81[ASN][1000 genomes]
rs12543344	0.81[ASN][1000 genomes]
rs12674568	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12676593	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12677290	0.88[ASN][1000 genomes]
rs12678669	0.88[EUR][1000 genomes]
rs12680104	0.95[EUR][1000 genomes]
rs12680996	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1427162	0.80[ASN][1000 genomes]
rs1582824	0.83[ASN][1000 genomes]
rs16923562	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16923564	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17263989	0.96[EUR][1000 genomes]
rs1834733	0.80[ASN][1000 genomes]
rs1976162	0.82[EUR][1000 genomes]
rs1991359	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279460	0.81[EUR][1000 genomes]
rs2279462	0.82[EUR][1000 genomes]
rs28429491	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28656336	0.90[EUR][1000 genomes]
rs28809811	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3739327	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808609	0.94[EUR][1000 genomes]
rs3816846	0.81[EUR][1000 genomes]
rs4282557	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4400366	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4400367	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4579515	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4738690	0.81[ASN][1000 genomes]
rs4738691	0.81[ASN][1000 genomes]
rs55774738	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56249776	0.81[EUR][1000 genomes]
rs59979442	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471729	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471731	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6981601	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984439	0.80[ASN][1000 genomes]
rs6986129	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995115	0.89[ASN][1000 genomes]
rs7005296	0.80[ASN][1000 genomes]
rs7009248	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009374	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011095	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014398	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016868	0.81[ASN][1000 genomes]
rs72647424	0.85[EUR][1000 genomes]
rs72647425	0.84[EUR][1000 genomes]
rs72647434	0.91[EUR][1000 genomes]
rs72647435	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7817515	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825996	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7827910	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840932	0.88[ASN][1000 genomes]
rs7843989	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297995	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297996	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297997	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9297998	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297999	0.90[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv6212	chr8:59435671-59451750	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59443000-59450800	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:59446400-59448600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:59446800-59448400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:59446800-59448600	Enhancers	Spleen	Spleen
6	chr8:59447200-59452000	Weak transcription	Right Atrium	heart
7	chr8:59447400-59448400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:59447400-59448800	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:59447600-59448800	Enhancers	K562	blood
10	chr8:59447600-59449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:59447600-59449000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:59447800-59448600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:59447800-59452000	Weak transcription	Right Ventricle	heart
14	chr8:59448000-59448800	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:59448000-59449200	Weak transcription	Lung	lung
16	chr8:59448000-59453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:59448200-59448400	Enhancers	Fetal Muscle Leg	muscle

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