Variant report

Variant	rs72977870
Chromosome Location	chr2:127560858-127560859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28387139	1.00[AMR][1000 genomes]
rs72977871	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	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127535200-127566600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:127559200-127562000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:127559800-127561000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:127559800-127561200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:127560000-127561200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr2:127560000-127561200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:127560200-127561600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:127560200-127566000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:127560400-127561000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:127560400-127561200	Enhancers	Brain Germinal Matrix	brain
11	chr2:127560800-127562400	Enhancers	Duodenum Mucosa	Duodenum

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

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