Variant report

Variant	rs322257
Chromosome Location	chr7:136974976-136974977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10268741	0.93[ASN][1000 genomes]
rs11765480	0.93[ASN][1000 genomes]
rs1367590	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473355	0.90[ASN][1000 genomes]
rs1835534	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1880790	0.89[ASN][1000 genomes]
rs1882066	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs322256	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3959914	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3959915	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6943993	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6950835	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6970674	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6972523	0.93[ASN][1000 genomes]
rs7782295	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9969157	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831149	chr7:136831665-137006468	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv889238	chr7:136915059-136989606	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv889239	chr7:136923730-136994013	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv889240	chr7:136972027-137038092	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:136961400-136980600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:136968600-136989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:136972000-136978400	Weak transcription	Brain Substantia Nigra	brain
5	chr7:136972200-136978000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:136972200-136979400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:136972200-136990400	Weak transcription	Fetal Stomach	stomach
8	chr7:136972800-136978800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:136973000-136976200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:136973600-136975200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:136974000-136977200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:136974200-136975200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:136974600-136982600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:136974600-136983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:136974800-136975000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:136974800-136975000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:136974800-136975200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr7:136974800-136975800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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

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