Variant report

Variant	rs58633000
Chromosome Location	chr2:189373668-189373669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10199260	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10211141	0.92[EUR][1000 genomes]
rs1354902	0.92[ASN][1000 genomes]
rs4423571	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4667229	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57943055	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60102741	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7569960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7573579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189329200-189399000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:189344200-189390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:189355800-189382400	Weak transcription	Gastric	stomach
4	chr2:189359200-189382200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189361800-189392000	Weak transcription	Ovary	ovary
6	chr2:189362800-189382200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:189367800-189382800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:189368600-189376200	Weak transcription	Fetal Lung	lung
9	chr2:189370400-189379400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:189371600-189376800	Weak transcription	Fetal Kidney	kidney
11	chr2:189371800-189380200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:189371800-189382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:189371800-189394000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:189372000-189374000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:189372000-189376000	Weak transcription	Aorta	Aorta
16	chr2:189372000-189380200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:189372000-189380800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:189372200-189375800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:189372200-189382200	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:189373200-189375400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:189373600-189373800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:189373600-189374200	Enhancers	Liver	Liver

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