Variant report

Variant	rs322312
Chromosome Location	chr7:136947398-136947399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs322239	0.83[EUR][1000 genomes]
rs322296	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs322299	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs322300	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs322302	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs322303	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs322307	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs322318	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs322320	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs322322	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62487108	0.82[EUR][1000 genomes]
rs706557	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs844287	0.82[AMR][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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136927200-136950000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:136936800-136951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:136938200-136980600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:136939000-136954600	Weak transcription	Fetal Stomach	stomach
5	chr7:136939200-136951800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:136940600-136957000	Weak transcription	Brain Angular Gyrus	brain
7	chr7:136941200-136949200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:136943200-136947400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:136943800-136949600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:136945000-136950200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:136946400-136947800	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:136946400-136951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:136946600-136949200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:136946600-136950200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:136946600-136951600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:136946800-136947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:136947000-136947800	Enhancers	Brain Substantia Nigra	brain
18	chr7:136947200-136947600	Enhancers	Brain Hippocampus Middle	brain
19	chr7:136947200-136949000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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