Variant report

Variant	rs6955251
Chromosome Location	chr7:47973034-47973035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2686817	0.83[JPT][hapmap]
rs2686821	0.83[JPT][hapmap]
rs2686823	0.83[JPT][hapmap]
rs2708873	0.83[JPT][hapmap]
rs2708911	0.83[JPT][hapmap]
rs3176564	0.82[JPT][hapmap]
rs885337	0.81[JPT][hapmap]
rs939904	0.83[JPT][hapmap]
rs939905	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6955251	UPP1	Cis_1M	lymphoblastoid	RTeQTL
rs6955251	UPP1	cis	cerebellum	SCAN
rs6955251	HUS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
2	chr7:47965800-47980400	Weak transcription	Aorta	Aorta
3	chr7:47966600-47974000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:47967000-47977400	Weak transcription	Right Ventricle	heart
5	chr7:47967600-47993400	Weak transcription	Brain Anterior Caudate	brain
6	chr7:47969200-47973800	Weak transcription	Lung	lung
7	chr7:47970600-47973200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:47972400-47977000	Weak transcription	Spleen	Spleen
9	chr7:47972400-47979200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:47972600-47973400	Weak transcription	Adipose Nuclei	Adipose
11	chr7:47972600-47974400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:47972600-47975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:47972600-47976600	Weak transcription	Left Ventricle	heart
14	chr7:47972600-47977800	Weak transcription	Fetal Thymus	thymus
15	chr7:47972600-47979000	Weak transcription	Right Atrium	heart
16	chr7:47972600-47980400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:47972800-47974200	Weak transcription	HSMMtube	muscle
18	chr7:47972800-47979600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:47973000-47975800	Weak transcription	Fetal Heart	heart

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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

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