Variant report

Variant	rs57377675
Chromosome Location	chr2:172863132-172863133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172860607..172867322-chr2:172946572..172954768,24	MCF-7	breast:
2	chr2:172824373..172826532-chr2:172862535..172864466,2	K562	blood:
3	chr2:172859788..172868192-chr2:172944876..172951443,18	MCF-7	breast:
4	chr2:172861569..172867068-chr2:172965912..172971063,13	K562	blood:
5	chr2:172861585..172863133-chr2:172947814..172949800,2	K562	blood:
6	chr2:172860889..172863133-chr2:172947915..172949800,2	K562	blood:
7	chr2:172862808..172868920-chr2:172961807..172971063,13	K562	blood:

No data

No data

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10197265	0.95[ASN][1000 genomes]
rs10209911	0.85[AMR][1000 genomes]
rs10497377	0.85[AMR][1000 genomes]
rs12616766	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12622259	0.93[ASN][1000 genomes]
rs12622385	1.00[AMR][1000 genomes]
rs12624292	0.87[AMR][1000 genomes]
rs17581481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17581509	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17615352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17615589	0.85[AMR][1000 genomes]
rs17615607	0.85[AMR][1000 genomes]
rs2357323	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28600716	0.93[ASN][1000 genomes]
rs56923699	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57887937	0.87[AMR][1000 genomes]
rs58368273	0.87[AMR][1000 genomes]
rs73976544	0.85[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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172847400-172864000	Weak transcription	HSMM	muscle
2	chr2:172848000-172863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:172849600-172863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:172856600-172863200	Weak transcription	K562	blood
5	chr2:172858600-172863200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:172859400-172863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:172861200-172864000	Weak transcription	Right Atrium	heart
8	chr2:172861200-172864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:172861400-172863800	Weak transcription	Ovary	ovary
10	chr2:172861400-172864000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:172862000-172863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:172862200-172863800	Weak transcription	Fetal Brain Male	brain
13	chr2:172862200-172863800	Enhancers	NHEK	skin
14	chr2:172862800-172864000	Active TSS	Brain Angular Gyrus	brain
15	chr2:172863000-172863200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:172863000-172863600	Enhancers	Brain Germinal Matrix	brain
17	chr2:172863000-172864000	Weak transcription	Esophagus	oesophagus

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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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