Variant report

Variant	rs6954589
Chromosome Location	chr7:31147965-31147966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1003575	0.92[JPT][hapmap]
rs1008385	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1159040	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1541518	0.95[CEU][hapmap];0.96[EUR][1000 genomes]
rs2284225	0.92[JPT][hapmap];0.80[EUR][1000 genomes]
rs2302476	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4503014	0.80[CEU][hapmap]
rs4723046	0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs4723047	0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs58094779	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs741057	0.81[CEU][hapmap]
rs7793414	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7802949	0.92[JPT][hapmap]
rs9792052	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538811	chr7:30549595-31405593	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1016256	chr7:30649212-31163056	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1023120	chr7:30655070-31185096	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2761316	chr7:30655082-31166676	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv527038	chr7:30657467-31161945	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv916877	chr7:30661135-31154731	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1017168	chr7:30663213-31166676	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1017808	chr7:30671936-31150473	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv915784	chr7:31134685-31870517	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31117400-31162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:31129000-31148200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:31133200-31154600	Weak transcription	Brain Angular Gyrus	brain
4	chr7:31133400-31154200	Weak transcription	Fetal Brain Male	brain
5	chr7:31136600-31149600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr7:31138400-31148800	Strong transcription	Fetal Brain Female	brain
7	chr7:31142400-31149400	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:31143400-31148600	Strong transcription	Fetal Stomach	stomach
9	chr7:31144600-31156400	Weak transcription	Right Atrium	heart
10	chr7:31145800-31148000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr7:31146600-31151000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:31146800-31148200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:31147600-31150200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr7:31147600-31150600	Weak transcription	Brain Germinal Matrix	brain
15	chr7:31147600-31150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:31147600-31156600	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:31147800-31148600	Enhancers	Spleen	Spleen

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links