Variant report

Variant	rs72896187
Chromosome Location	chr1:45940167-45940168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45933683..45936591-chr1:45937552..45940709,3	K562	blood:
2	chr1:45936186..45938090-chr1:45940024..45942572,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11211125	1.00[EUR][1000 genomes]
rs11211127	1.00[EUR][1000 genomes]
rs11803788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808204	1.00[AMR][1000 genomes]
rs12065695	1.00[EUR][1000 genomes]
rs12066809	1.00[EUR][1000 genomes]
rs12067882	1.00[EUR][1000 genomes]
rs12070890	1.00[EUR][1000 genomes]
rs12073047	1.00[EUR][1000 genomes]
rs12083690	1.00[EUR][1000 genomes]
rs12091335	1.00[EUR][1000 genomes]
rs12093444	1.00[EUR][1000 genomes]
rs12565230	1.00[EUR][1000 genomes]
rs16832540	1.00[EUR][1000 genomes]
rs16832545	1.00[EUR][1000 genomes]
rs16832550	1.00[EUR][1000 genomes]
rs16832557	1.00[EUR][1000 genomes]
rs16832559	1.00[EUR][1000 genomes]
rs1855621	1.00[EUR][1000 genomes]
rs28532613	1.00[EUR][1000 genomes]
rs2934860	1.00[EUR][1000 genomes]
rs2934861	1.00[EUR][1000 genomes]
rs2934863	1.00[EUR][1000 genomes]
rs2934864	1.00[EUR][1000 genomes]
rs2991967	1.00[EUR][1000 genomes]
rs2991969	1.00[EUR][1000 genomes]
rs2991984	1.00[EUR][1000 genomes]
rs2993256	1.00[EUR][1000 genomes]
rs2993260	1.00[EUR][1000 genomes]
rs2993261	1.00[EUR][1000 genomes]
rs3014222	1.00[EUR][1000 genomes]
rs3014223	1.00[EUR][1000 genomes]
rs3014224	1.00[EUR][1000 genomes]
rs3014226	1.00[EUR][1000 genomes]
rs35067820	1.00[EUR][1000 genomes]
rs35103566	1.00[EUR][1000 genomes]
rs36053912	1.00[EUR][1000 genomes]
rs55680990	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812863	1.00[AMR][1000 genomes]
rs57910611	1.00[EUR][1000 genomes]
rs59050426	1.00[EUR][1000 genomes]
rs59796793	1.00[AMR][1000 genomes]
rs60136496	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60347972	1.00[EUR][1000 genomes]
rs60660559	1.00[EUR][1000 genomes]
rs61281143	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61325888	1.00[AMR][1000 genomes]
rs6659464	1.00[AMR][1000 genomes]
rs6661693	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664588	1.00[EUR][1000 genomes]
rs6665790	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671347	1.00[EUR][1000 genomes]
rs6677135	1.00[EUR][1000 genomes]
rs6691750	1.00[AMR][1000 genomes]
rs6694590	1.00[AMR][1000 genomes]
rs6699702	1.00[EUR][1000 genomes]
rs72892506	1.00[AMR][1000 genomes]
rs72892519	1.00[AMR][1000 genomes]
rs72892536	1.00[AMR][1000 genomes]
rs72892538	1.00[AMR][1000 genomes]
rs72892542	1.00[AMR][1000 genomes]
rs72894320	1.00[AMR][1000 genomes]
rs72894327	1.00[AMR][1000 genomes]
rs72894331	1.00[AMR][1000 genomes]
rs72894333	1.00[AMR][1000 genomes]
rs72894338	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894353	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72898313	1.00[EUR][1000 genomes]
rs72898315	1.00[EUR][1000 genomes]
rs72898320	1.00[EUR][1000 genomes]
rs72898323	1.00[EUR][1000 genomes]
rs72900311	1.00[EUR][1000 genomes]
rs7412911	1.00[EUR][1000 genomes]
rs7514911	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7536005	1.00[AMR][1000 genomes]
rs7536559	1.00[EUR][1000 genomes]
rs7538197	1.00[AMR][1000 genomes]
rs7550744	1.00[EUR][1000 genomes]
rs9429080	1.00[EUR][1000 genomes]
rs9429083	1.00[EUR][1000 genomes]
rs9429164	1.00[EUR][1000 genomes]
rs9429165	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45889800-45940600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:45915400-45940600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:45919000-45941000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:45923400-45940600	Weak transcription	Primary B cells from cord blood	blood
5	chr1:45923600-45951600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:45935600-45943400	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:45936400-45943800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:45939400-45941200	Enhancers	GM12878-XiMat	blood
9	chr1:45939400-45943400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:45939400-45955000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:45939600-45940600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:45939600-45943400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:45939800-45941200	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links