Variant report

Variant	rs12474699
Chromosome Location	chr2:141779660-141779661
allele	C/T
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:12)

rs_ID	r²[population]
rs12471736	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12471842	0.85[ASN][1000 genomes]
rs12475929	0.98[ASN][1000 genomes]
rs12475930	0.98[ASN][1000 genomes]
rs1525597	0.98[ASN][1000 genomes]
rs1525599	0.92[ASN][1000 genomes]
rs16845115	0.82[ASN][1000 genomes]
rs17521615	0.96[ASN][1000 genomes]
rs34168519	0.95[ASN][1000 genomes]
rs57639568	0.93[ASN][1000 genomes]
rs61032295	0.93[ASN][1000 genomes]
rs72975061	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv875208	chr2:141657878-141795620	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1014208	chr2:141707558-141790148	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv875210	chr2:141764693-141818657	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875211	chr2:141764693-141846346	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141773600-141806800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:141774200-141785000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:141774600-141779800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:141777400-141780400	Enhancers	HMEC	breast
5	chr2:141777600-141780600	Enhancers	HUVEC	blood vessel
6	chr2:141778200-141780400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:141778400-141780200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr2:141778800-141779800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:141778800-141780000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:141778800-141780200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:141779200-141780400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:141779400-141780000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:141779400-141782200	Weak transcription	NHDF-Ad	bronchial
14	chr2:141779600-141780000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links