Variant report

Variant	rs6975115
Chromosome Location	chr7:128068525-128068526
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128067007..128069325-chr7:128094780..128097115,3	K562	blood:
2	chr7:128068005..128069894-chr7:128069936..128071619,3	MCF-7	breast:
3	chr7:128063888..128067571-chr7:128068051..128071487,5	MCF-7	breast:
4	chr7:128066083..128070069-chr7:128074107..128077404,7	MCF-7	breast:
5	chr7:128066861..128069656-chr7:128084982..128087017,2	MCF-7	breast:
6	chr7:128068276..128070709-chr7:128171037..128172812,2	K562	blood:
7	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
8	chr7:128068370..128070064-chr7:128521122..128523499,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242588	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000273270	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10954184	0.81[ASN][1000 genomes]
rs10954186	0.85[ASN][1000 genomes]
rs11765023	0.80[ASN][1000 genomes]
rs11765126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11773251	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11973781	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11977296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981766	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982673	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11983847	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12536006	0.86[ASN][1000 genomes]
rs12706850	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706851	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221784	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13222212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13242340	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13312278	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2076805	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228075	0.85[ASN][1000 genomes]
rs34848853	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35649907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566975	0.85[ASN][1000 genomes]
rs55826686	0.84[ASN][1000 genomes]
rs67076895	0.84[ASN][1000 genomes]
rs67091533	0.85[ASN][1000 genomes]
rs7802305	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6975115	IMPDH1	cis	Adipose Subcutaneous	GTEx
rs6975115	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128063000-128071600	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:128064200-128070800	Weak transcription	Adipose Nuclei	Adipose
4	chr7:128066200-128069600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr7:128067600-128068800	Enhancers	HepG2	liver
6	chr7:128067600-128069000	Enhancers	A549	lung
7	chr7:128067800-128068800	Enhancers	HMEC	breast
8	chr7:128068400-128068800	Enhancers	NHEK	skin
9	chr7:128068400-128069000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:128068400-128070400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:128068400-128070600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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