Variant report

Variant	rs12474304
Chromosome Location	chr2:173705592-173705593
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12471745	0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12478288	1.00[YRI][hapmap]
rs12618968	0.84[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[YRI][hapmap]
rs12622141	1.00[YRI][hapmap]
rs12622441	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16823271	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16860904	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1863168	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194719	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3769289	1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs3769295	1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[YRI][hapmap]
rs3769306	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769314	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3820852	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr2:173679200-173708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173689200-173723200	Weak transcription	Esophagus	oesophagus
3	chr2:173700000-173710000	Weak transcription	Psoas Muscle	Psoas
4	chr2:173701400-173708800	Weak transcription	Left Ventricle	heart
5	chr2:173701600-173706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:173701600-173709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:173702200-173707200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:173702200-173707400	Weak transcription	Fetal Heart	heart
9	chr2:173702600-173707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:173702600-173707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173702600-173707600	Weak transcription	HMEC	breast
12	chr2:173702800-173707400	Weak transcription	NHEK	skin
13	chr2:173705200-173707200	Weak transcription	Right Atrium	heart
14	chr2:173705400-173705600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:173705400-173705600	Enhancers	Brain Angular Gyrus	brain
16	chr2:173705400-173705800	Weak transcription	Placenta	Placenta

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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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