Variant report

Variant	rs745288
Chromosome Location	chr2:173820377-173820378
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:17)

rs_ID	r²[population]
rs10497387	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10754979	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12465032	0.81[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12619862	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12986507	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13023047	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16861062	0.86[ASN][1000 genomes]
rs17707776	0.86[ASN][1000 genomes]
rs1974922	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769245	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4972519	0.80[CEU][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4972522	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62174630	0.86[ASN][1000 genomes]
rs62174645	1.00[ASN][1000 genomes]
rs72894145	0.86[ASN][1000 genomes]
rs72894151	0.86[ASN][1000 genomes]
rs7604579	0.82[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173800600-173829400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173807800-173831600	Weak transcription	Left Ventricle	heart
3	chr2:173816600-173831800	Weak transcription	Lung	lung
4	chr2:173816800-173821600	Weak transcription	Fetal Thymus	thymus
5	chr2:173817200-173821600	Weak transcription	Thymus	Thymus
6	chr2:173818800-173820400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:173819200-173827000	Weak transcription	NHLF	lung
8	chr2:173819400-173821000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:173819600-173820800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:173819600-173826800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:173819800-173820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:173819800-173820800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:173819800-173826800	Weak transcription	NHEK	skin
14	chr2:173820200-173820400	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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