Variant report

Variant	rs73042428
Chromosome Location	chr2:189399467-189399468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11679949	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11685643	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56891673	0.82[AFR][1000 genomes]
rs57067423	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57246854	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73040476	0.83[AMR][1000 genomes]
rs73040484	0.83[AMR][1000 genomes]
rs73040494	0.83[AMR][1000 genomes]
rs73040496	0.83[AMR][1000 genomes]
rs73040500	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73040502	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73042418	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73042420	0.83[AFR][1000 genomes]
rs73042427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042430	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042433	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042451	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7421510	0.97[AFR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
3	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189387800-189404000	Weak transcription	A549	lung
5	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:189392600-189400600	Weak transcription	Ovary	ovary
7	chr2:189392600-189406800	Weak transcription	HUVEC	blood vessel
8	chr2:189394600-189402400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189395000-189415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:189395000-189421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:189395000-189422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:189395200-189400200	Weak transcription	Fetal Lung	lung
13	chr2:189395400-189421800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:189396000-189400000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:189396000-189402200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:189396000-189413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:189397400-189400200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:189398600-189399600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:189398800-189400400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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