Variant report

Variant	rs2177164
Chromosome Location	chr7:47866436-47866437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10245949	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12670579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228166	0.81[CHB][hapmap]
rs13237611	0.96[CEU][hapmap]
rs1551275	0.89[CEU][hapmap]
rs17710832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980279	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2123608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3757379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3800568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4543454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6463451	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6947216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960513	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs6968437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975745	0.93[CEU][hapmap]
rs7777539	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7783295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7783894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7789224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs876467	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs9639016	0.93[CEU][hapmap]
rs9639987	0.96[CEU][hapmap]

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	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	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47852800-47879000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:47855000-47869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:47855000-47880200	Weak transcription	Lung	lung
4	chr7:47855800-47866800	Weak transcription	Left Ventricle	heart
5	chr7:47855800-47902400	Weak transcription	Adipose Nuclei	Adipose
6	chr7:47859000-47866600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr7:47859000-47869000	Weak transcription	HSMM	muscle
8	chr7:47865600-47871000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:47865800-47868200	Enhancers	Fetal Heart	heart
10	chr7:47866000-47867000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:47866200-47867400	Enhancers	Fetal Lung	lung
12	chr7:47866200-47867600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:47866200-47868600	Enhancers	Brain Anterior Caudate	brain
14	chr7:47866400-47867200	Weak transcription	Fetal Brain Female	brain
15	chr7:47866400-47868400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:47866400-47868400	Enhancers	Fetal Muscle Leg	muscle
17	chr7:47866400-47868600	Enhancers	Pancreas	Pancrea
18	chr7:47866400-47868800	Enhancers	Brain Substantia Nigra	brain
19	chr7:47866400-47869800	Enhancers	HSMMtube	muscle
20	chr7:47866400-47870600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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