Variant report

Variant	rs12097500
Chromosome Location	chr1:216707971-216707972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11572813	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12058696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17042784	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17626555	1.00[JPT][hapmap]
rs3738492	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3738493	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs59029752	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6694260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.97[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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705000-216714400	Weak transcription	Gastric	stomach
2	chr1:216705400-216708000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:216705400-216708200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:216705400-216721000	Weak transcription	Pancreas	Pancrea
5	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:216705600-216711800	Weak transcription	Right Atrium	heart
7	chr1:216705800-216708000	Weak transcription	Left Ventricle	heart
8	chr1:216705800-216708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:216706000-216709200	Weak transcription	Psoas Muscle	Psoas
10	chr1:216707400-216708000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:216707400-216708600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:216707800-216708200	Flanking Active TSS	Fetal Heart	heart

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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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