Variant report

Variant	rs12585343
Chromosome Location	chr13:51899466-51899467
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51889117..51892002-chr13:51899188..51901236,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs11148215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11148219	0.93[EUR][1000 genomes]
rs11838784	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11839165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842573	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11842878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11843641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100084	0.93[EUR][1000 genomes]
rs12100112	0.93[EUR][1000 genomes]
rs12584325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12584416	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12585171	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586110	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413103	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1570549	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570550	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194921	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194928	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194955	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17195027	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17529985	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17790799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17790838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4941697	1.00[AMR][1000 genomes]
rs4941699	0.93[EUR][1000 genomes]
rs4942992	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4942993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942994	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4942995	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4942996	0.93[EUR][1000 genomes]
rs4942997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942998	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4942999	0.93[EUR][1000 genomes]
rs59024783	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59215783	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60860538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956888	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956889	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956909	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956911	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956913	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61956914	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61956916	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61956917	0.93[EUR][1000 genomes]
rs61956937	0.93[EUR][1000 genomes]
rs61956938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956942	0.93[EUR][1000 genomes]
rs61956943	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956945	0.86[EUR][1000 genomes]
rs61956947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956949	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956950	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956951	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61956952	0.93[EUR][1000 genomes]
rs61956955	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61958268	0.86[ASN][1000 genomes]
rs73195977	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195982	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195996	0.93[EUR][1000 genomes]
rs73197808	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7338174	0.81[EUR][1000 genomes]
rs7400061	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7988157	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7992891	0.93[EUR][1000 genomes]
rs7995268	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8001625	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526756	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9563041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563043	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9563047	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9563049	0.93[EUR][1000 genomes]
rs9563050	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563052	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563053	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563054	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9563055	0.93[EUR][1000 genomes]
rs9563056	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568564	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568567	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568570	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568572	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568573	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568575	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568578	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9568579	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568580	0.81[EUR][1000 genomes]
rs9568581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9568585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568586	0.93[EUR][1000 genomes]
rs9568588	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568589	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568590	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568591	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568592	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568593	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568594	0.93[EUR][1000 genomes]
rs9568596	0.93[EUR][1000 genomes]
rs9568609	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568610	0.80[AMR][1000 genomes]
rs9634685	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9634838	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634840	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634844	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51867600-51910800	Weak transcription	Pancreas	Pancrea
2	chr13:51889400-51901200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:51890000-51904800	Weak transcription	Right Atrium	heart
4	chr13:51897000-51900400	Enhancers	Brain Substantia Nigra	brain
5	chr13:51897600-51904800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:51898000-51900400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:51898000-51900600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:51898400-51899600	Enhancers	Primary B cells from peripheral blood	blood
9	chr13:51898400-51899800	Enhancers	Brain Germinal Matrix	brain
10	chr13:51898400-51899800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:51898400-51900000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:51898400-51900400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:51898600-51904600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:51898600-51904800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:51898600-51904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:51898800-51900400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:51898800-51902200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:51899000-51900200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr13:51899000-51900400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:51899000-51900400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr13:51899200-51899600	Active TSS	Brain Anterior Caudate	brain
22	chr13:51899200-51899600	Enhancers	Fetal Muscle Trunk	muscle
23	chr13:51899200-51899800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:51899200-51900200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:51899200-51900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:51899200-51900400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:51899200-51900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:51899200-51900400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr13:51899200-51900400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr13:51899200-51900400	Enhancers	Brain Angular Gyrus	brain
31	chr13:51899200-51900400	Enhancers	Fetal Brain Male	brain
32	chr13:51899200-51900400	Enhancers	GM12878-XiMat	blood
33	chr13:51899400-51899600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr13:51899400-51899600	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr13:51899400-51899800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr13:51899400-51900000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr13:51899400-51900200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr13:51899400-51900600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:51899400-51900800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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