Variant report

Variant	rs60136496
Chromosome Location	chr1:45931422-45931423
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45285485..45286988-chr1:45931299..45932805,2	K562	blood:
2	chr1:45285485..45287428-chr1:45930099..45932799,2	K562	blood:
3	chr1:45931354..45933386-chr1:45955407..45957046,2	MCF-7	breast:
4	chr1:45186020..45188912-chr1:45930067..45931888,2	K562	blood:

Variant related genes	Relation type
ENSG00000070759	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11803788	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808204	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55680990	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812863	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61281143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325888	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659464	1.00[AMR][1000 genomes]
rs6661693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665790	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691750	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694590	1.00[AMR][1000 genomes]
rs72892506	1.00[AMR][1000 genomes]
rs72892519	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892536	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892538	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892542	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894320	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894327	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894331	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894333	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894338	1.00[AMR][1000 genomes]
rs72894353	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72896187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514911	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536005	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7538197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551168	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	56 gene(s)	inside rSNPs	diseases
4	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
6	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
7	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
8	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45889800-45940600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:45913000-45933000	Weak transcription	Ovary	ovary
3	chr1:45915400-45940600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:45919000-45941000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:45920600-45932600	Weak transcription	GM12878-XiMat	blood
6	chr1:45921200-45933800	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:45921200-45934200	Weak transcription	Brain Substantia Nigra	brain
8	chr1:45921800-45933000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:45923400-45940600	Weak transcription	Primary B cells from cord blood	blood
10	chr1:45923600-45951600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links