Variant report

Variant	rs72863564
Chromosome Location	chr2:30505043-30505044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30502244..30505490-chr2:30505646..30508832,3	K562	blood:
2	chr2:30492609..30498339-chr2:30504357..30508206,5	K562	blood:
3	chr2:30504654..30506690-chr2:30509029..30511575,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57783522	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60481989	1.00[ASN][1000 genomes]
rs6727586	1.00[ASN][1000 genomes]
rs72863566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863572	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863576	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72863582	0.82[AFR][1000 genomes]
rs9677363	1.00[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30487200-30517800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:30493400-30506800	Weak transcription	Right Ventricle	heart
3	chr2:30494600-30507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:30494800-30505800	Weak transcription	K562	blood
5	chr2:30496400-30509800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:30496600-30524200	Weak transcription	Right Atrium	heart
7	chr2:30496800-30506800	Weak transcription	Left Ventricle	heart
8	chr2:30497800-30505600	Weak transcription	Spleen	Spleen
9	chr2:30497800-30516400	Weak transcription	Gastric	stomach
10	chr2:30498000-30505600	Weak transcription	Fetal Stomach	stomach
11	chr2:30499800-30510400	Weak transcription	Aorta	Aorta
12	chr2:30501400-30510800	Enhancers	Primary B cells from cord blood	blood
13	chr2:30501800-30511000	Weak transcription	HSMM	muscle
14	chr2:30502000-30505400	Weak transcription	Primary T cells from cord blood	blood
15	chr2:30502000-30505600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:30502000-30505600	Weak transcription	Fetal Thymus	thymus
17	chr2:30502000-30510000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:30502200-30509800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:30502800-30505600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:30503400-30506200	Enhancers	Placenta	Placenta
21	chr2:30503600-30506600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:30503800-30513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:30504600-30510000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:30504800-30505600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr2:30504800-30505600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr2:30504800-30506200	Enhancers	GM12878-XiMat	blood
27	chr2:30505000-30505200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr2:30505000-30505200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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