Variant report

Variant	rs1550407
Chromosome Location	chr2:127401993-127401994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10928978	0.81[ASN][1000 genomes]
rs10928979	0.84[ASN][1000 genomes]
rs12468467	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13008888	0.86[ASN][1000 genomes]
rs13395010	0.91[ASN][1000 genomes]
rs1813402	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1960696	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2099732	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099733	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2119151	0.91[ASN][1000 genomes]
rs2119152	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165226	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2404961	0.89[ASN][1000 genomes]
rs28387094	0.88[ASN][1000 genomes]
rs28387096	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811541	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6431169	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3395703	chr2:127309762-127404005	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:127395800-127405000	Weak transcription	Lung	lung
2	chr2:127399400-127402000	Enhancers	K562	blood
3	chr2:127400800-127402000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:127400800-127402000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:127401000-127403200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:127401200-127403400	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:127401400-127403200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr2:127401400-127403400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:127401400-127405400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:127401600-127402600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr2:127401600-127403200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:127401600-127403200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr2:127401600-127403400	Enhancers	Primary B cells from cord blood	blood
14	chr2:127401800-127402600	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:127401800-127403000	Weak transcription	Psoas Muscle	Psoas
16	chr2:127401800-127403400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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