Variant report

Variant	rs7975536
Chromosome Location	chr12:31781247-31781248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12826630	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12827275	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34229621	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3844104	0.82[EUR][1000 genomes]
rs498080	0.90[ASN][1000 genomes]
rs73088360	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7967518	0.87[EUR][1000 genomes]
rs7979755	0.99[EUR][1000 genomes];0.93[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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31773600-31782600	Weak transcription	A549	lung
2	chr12:31775600-31782400	Weak transcription	HSMMtube	muscle
3	chr12:31779600-31782200	Weak transcription	Fetal Intestine Small	intestine
4	chr12:31779800-31782400	Weak transcription	K562	blood
5	chr12:31780800-31781400	Enhancers	Fetal Muscle Trunk	muscle
6	chr12:31780800-31781600	Enhancers	Ovary	ovary
7	chr12:31780800-31782200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:31781000-31782200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:31781000-31782200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:31781000-31782400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:31781000-31782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:31781000-31782400	Weak transcription	Adipose Nuclei	Adipose
13	chr12:31781000-31782400	Weak transcription	Left Ventricle	heart
14	chr12:31781000-31782600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:31781200-31782200	Weak transcription	Fetal Heart	heart
16	chr12:31781200-31782200	Weak transcription	Fetal Lung	lung
17	chr12:31781200-31782400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:31781200-31782400	Weak transcription	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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