Variant report

Variant	rs57203147
Chromosome Location	chr2:30876287-30876288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30872918..30875377-chr2:30876249..30879009,2	K562	blood:
2	chr2:30873034..30877433-chr2:30878993..30882629,5	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12999917	0.80[AFR][1000 genomes]
rs56818448	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57797549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58788359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60820628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62142163	0.80[AFR][1000 genomes]
rs72853186	1.00[AMR][1000 genomes]
rs72856608	1.00[AMR][1000 genomes]
rs72856611	1.00[AMR][1000 genomes]
rs72856617	1.00[AMR][1000 genomes]
rs72856619	1.00[AMR][1000 genomes]
rs72856654	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856657	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856658	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856700	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72856701	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858905	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858912	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858921	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858923	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858973	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858974	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72858979	0.84[AFR][1000 genomes]
rs72858999	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863010	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72863047	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30845600-30877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:30845800-30877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:30860400-30878200	Weak transcription	NHLF	lung
4	chr2:30861400-30876800	Weak transcription	Fetal Heart	heart
5	chr2:30863600-30882200	Weak transcription	Ovary	ovary
6	chr2:30864800-30876600	Weak transcription	Osteobl	bone
7	chr2:30865200-30877000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:30865200-30878200	Weak transcription	A549	lung
9	chr2:30869200-30878000	Weak transcription	Psoas Muscle	Psoas
10	chr2:30872200-30876600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:30872400-30878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:30872400-30878200	Weak transcription	Left Ventricle	heart
13	chr2:30872600-30876400	Weak transcription	NHDF-Ad	bronchial
14	chr2:30872600-30876600	Weak transcription	Right Ventricle	heart
15	chr2:30872600-30877600	Weak transcription	HSMMtube	muscle
16	chr2:30873000-30876400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:30873000-30876800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:30874400-30876400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:30875200-30879400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30875800-30876600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:30875800-30876600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:30875800-30877600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:30876200-30877000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:30876200-30879600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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