Variant report

Variant	rs72853154
Chromosome Location	chr2:30666530-30666531
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30659808..30662413-chr2:30664986..30667717,2	K562	blood:
2	chr2:30665155..30667715-chr2:30668853..30672910,4	K562	blood:
3	chr2:30665529..30667987-chr2:30668853..30670982,3	K562	blood:
4	chr2:30662772..30665115-chr2:30666031..30669960,4	K562	blood:
5	chr2:30666329..30668432-chr2:30685565..30687906,2	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11686191	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11892635	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252639	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252641	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252643	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252647	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1614348	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1615605	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1662941	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1662942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1662944	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662949	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662955	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1662958	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723156	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723167	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723170	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723175	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2462562	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2692041	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28538173	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35418935	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952124	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4952148	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7562645	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829562	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829570	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829571	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829573	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829576	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829577	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829579	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829584	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829623	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829636	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829638	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829645	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829647	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829648	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829649	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829650	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829651	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829658	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs829686	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829687	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829689	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs829690	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829693	0.86[EUR][1000 genomes];0.88[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	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30661600-30669400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:30663000-30669400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:30663200-30669400	Weak transcription	Thymus	Thymus
4	chr2:30663200-30669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:30663600-30669000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:30663600-30669000	Weak transcription	Fetal Heart	heart
7	chr2:30663600-30669400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:30663800-30669400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:30665400-30666800	Enhancers	K562	blood
10	chr2:30666000-30667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:30666200-30666600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:30666200-30666600	Enhancers	A549	lung
13	chr2:30666200-30667000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:30666200-30668800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:30666400-30666600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:30666400-30666800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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