Variant report

Variant	rs11134255
Chromosome Location	chr5:7742208-7742209
allele	A/G
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:18)

rs_ID	r²[population]
rs10474818	1.00[AFR][1000 genomes]
rs11134253	0.88[AFR][1000 genomes]
rs11960468	1.00[EUR][1000 genomes]
rs13168000	0.95[AFR][1000 genomes]
rs16879182	1.00[EUR][1000 genomes]
rs16879196	1.00[EUR][1000 genomes]
rs16879215	1.00[EUR][1000 genomes]
rs326155	1.00[EUR][1000 genomes]
rs326158	1.00[EUR][1000 genomes]
rs326161	1.00[EUR][1000 genomes]
rs326163	1.00[EUR][1000 genomes]
rs326165	1.00[EUR][1000 genomes]
rs35209447	1.00[EUR][1000 genomes]
rs4235584	0.90[YRI][hapmap];0.95[AFR][1000 genomes]
rs4701792	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs6885060	1.00[EUR][1000 genomes]
rs7714729	1.00[EUR][1000 genomes]
rs9313202	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][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	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1024268	chr5:7707047-7821303	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3395032	chr5:7739652-7743850	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7688000-7743200	Weak transcription	Brain Substantia Nigra	brain
2	chr5:7705800-7745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:7705800-7755000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:7711000-7783600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:7712000-7746000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:7719000-7768800	Weak transcription	Brain Anterior Caudate	brain
7	chr5:7719000-7785000	Weak transcription	Aorta	Aorta
8	chr5:7719600-7746200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:7720000-7743200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:7720400-7757400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:7722400-7745000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:7722400-7745800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:7727000-7747400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:7727400-7747600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:7727400-7747600	Weak transcription	Fetal Stomach	stomach
16	chr5:7728000-7757800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:7734800-7748800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:7741000-7742400	Weak transcription	Psoas Muscle	Psoas
19	chr5:7741800-7742400	Weak transcription	Brain Angular Gyrus	brain
20	chr5:7741800-7763800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:7742000-7742400	Weak transcription	Gastric	stomach
22	chr5:7742000-7743200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:7742000-7744000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:7742000-7745600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:7742000-7746200	Weak transcription	Fetal Lung	lung
26	chr5:7742000-7746400	Weak transcription	Fetal Kidney	kidney
27	chr5:7742000-7749000	Weak transcription	Fetal Brain Male	brain
28	chr5:7742200-7743000	Enhancers	NHEK	skin

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