Variant report

Variant	rs11111725
Chromosome Location	chr12:104106396-104106397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10444529	0.91[ASW][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10778282	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10861077	0.88[GIH][hapmap]
rs10861084	1.00[ASW][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11111723	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11111736	0.91[ASW][hapmap];0.86[MKK][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11111737	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66517507	0.86[AFR][1000 genomes]
rs7138824	0.88[GIH][hapmap]
rs7307204	1.00[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv899479	chr12:104092996-104138918	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104104400-104111000	Weak transcription	Spleen	Spleen
2	chr12:104105200-104106800	Enhancers	Fetal Heart	heart
3	chr12:104105200-104106800	Enhancers	Fetal Muscle Leg	muscle
4	chr12:104105400-104106400	Enhancers	Left Ventricle	heart
5	chr12:104105400-104106400	Enhancers	Right Atrium	heart
6	chr12:104105400-104106800	Enhancers	HSMM	muscle
7	chr12:104105600-104107200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:104105800-104106400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:104105800-104106800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:104106000-104106800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:104106000-104108800	Weak transcription	HSMMtube	muscle

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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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