Variant report

Variant	rs72930260
Chromosome Location	chr2:177540526-177540527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10497448	0.89[EUR][1000 genomes]
rs12991707	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12997926	0.86[EUR][1000 genomes]
rs17345806	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35231950	0.89[EUR][1000 genomes]
rs55898660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55963234	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66809138	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6730174	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72930241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930256	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72932119	0.93[AMR][1000 genomes]
rs72932120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72932129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527737	chr2:177538266-177692572	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv583686	chr2:177538266-177692572	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177534800-177540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:177534800-177543600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:177534800-177545600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:177536000-177540600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:177537000-177545200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:177540000-177541600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:177540200-177541000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:177540400-177540600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:177540400-177540600	Enhancers	GM12878-XiMat	blood
10	chr2:177540400-177540800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:177540400-177541000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:177540400-177541000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:177540400-177541000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:177540400-177541000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:177540400-177541200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:177540400-177541200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:177540400-177541400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:177540400-177541400	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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