Variant report

Variant	rs3102220
Chromosome Location	chr13:61754044-61754045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3102178	0.88[ASW][hapmap]
rs3102199	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3102201	0.88[AFR][1000 genomes]
rs3102202	0.87[EUR][1000 genomes]
rs3102209	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102210	0.82[AMR][1000 genomes]
rs3102211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102212	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3102213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3102219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3102222	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3127270	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3127271	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3127272	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3127281	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs3127285	0.96[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832627	chr13:61642811-61829217	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
2	esv3444432	chr13:61665252-61781081	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	nsv900243	chr13:61711163-61799269	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 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	chr13:61750400-61754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:61753000-61755200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr13:61753400-61754800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr13:61753600-61754400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:61753600-61754800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:61753600-61755000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:61753600-61755000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:61753600-61755000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:61753600-61755000	Enhancers	Rectal Smooth Muscle	rectum
10	chr13:61753800-61754400	Weak transcription	Fetal Stomach	stomach
11	chr13:61753800-61754400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:61753800-61755000	Enhancers	Fetal Kidney	kidney
13	chr13:61753800-61759200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr13:61754000-61754400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr13:61754000-61754400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr13:61754000-61754400	Active TSS	Stomach Smooth Muscle	stomach
17	chr13:61754000-61755000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:61754000-61755000	Enhancers	Aorta	Aorta

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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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