Variant report

Variant	rs73971281
Chromosome Location	chr2:168650727-168650728
allele	A/G
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]
rs73971279	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168640800-168658400	Weak transcription	Psoas Muscle	Psoas
2	chr2:168648000-168650800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:168648000-168651000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:168648200-168651200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:168648200-168651400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:168648400-168650800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:168648600-168651200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:168649000-168653000	Enhancers	HepG2	liver
9	chr2:168649600-168650800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:168649600-168651200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:168649800-168651200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:168650200-168652000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:168650400-168651000	Enhancers	Fetal Kidney	kidney
14	chr2:168650400-168651200	Enhancers	Colon Smooth Muscle	Colon
15	chr2:168650600-168651200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:168650600-168651200	Enhancers	Fetal Lung	lung

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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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