Variant report

Variant	rs73971279
Chromosome Location	chr2:168646467-168646468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs59127270	1.00[AMR][1000 genomes]
rs73971246	1.00[AMR][1000 genomes]
rs73971255	1.00[AMR][1000 genomes]
rs73971274	1.00[AMR][1000 genomes]
rs73971281	1.00[AFR][1000 genomes];1.00[AMR][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	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv583596	chr2:168621005-168817002	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv428728	chr2:168640559-168842559	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168640600-168646800	Weak transcription	Fetal Heart	heart
2	chr2:168640800-168649600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:168640800-168658400	Weak transcription	Psoas Muscle	Psoas
4	chr2:168641400-168650000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:168642400-168647000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:168642600-168648600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:168642800-168648200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:168642800-168649600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:168643000-168648000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:168643000-168648400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:168643200-168648000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:168643200-168648200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:168643600-168648600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:168643800-168648200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:168644400-168649000	Weak transcription	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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