Variant report

Variant	rs2608714
Chromosome Location	chr12:41859270-41859271
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1026464	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10735993	0.91[ASN][1000 genomes]
rs10785265	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880075	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10880076	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11180999	0.84[EUR][1000 genomes]
rs1155220	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1160183	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1160184	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1160748	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1160749	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12314238	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1350429	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1350430	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1379758	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1379759	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1379760	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1379761	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379763	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379764	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379768	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1379769	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379770	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1379771	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379772	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1379773	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1379774	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1379776	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1458156	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1458157	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1458158	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1458159	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1458160	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458166	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1458167	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1458168	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1471161	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471162	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1471163	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1551593	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1551595	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1551596	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1598894	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1841025	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1870285	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1870286	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1902906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2034923	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2125286	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2125287	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2199028	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2250003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250009	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2250908	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251259	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251349	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251672	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2251683	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251684	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2253528	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2253633	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2253634	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2255035	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2255145	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2255152	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2255404	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2256412	0.87[EUR][1000 genomes]
rs2264905	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405920	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405921	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2446143	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2446144	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2468310	0.87[EUR][1000 genomes]
rs2468314	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2468315	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2468317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608689	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608690	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608691	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608692	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608696	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608697	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608701	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2608702	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2608703	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2608704	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608705	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608706	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2608707	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2608708	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2608710	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2608711	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608715	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2608716	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2608718	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2710264	0.87[EUR][1000 genomes]
rs2730802	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2730803	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2730804	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2730805	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2730807	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730809	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730810	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2730811	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730814	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730817	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730818	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2730819	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730820	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730822	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730827	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2730828	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2730829	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2730830	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733269	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2733274	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2733275	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2733276	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2733278	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2733280	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2733282	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2733284	0.86[EUR][1000 genomes]
rs2733285	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2733287	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2733289	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2733290	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733291	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2733292	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2733293	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2733297	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2733298	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2733299	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs285556	0.86[EUR][1000 genomes]
rs285560	0.86[EUR][1000 genomes]
rs285575	0.86[EUR][1000 genomes]
rs285590	0.86[EUR][1000 genomes]
rs285592	0.85[EUR][1000 genomes]
rs285593	0.86[EUR][1000 genomes]
rs285595	0.86[EUR][1000 genomes]
rs2957590	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35766123	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs437178	0.83[EUR][1000 genomes]
rs4584644	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768353	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768354	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298808	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7954518	0.84[EUR][1000 genomes]
rs897973	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs971998	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs981012	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs981014	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs989904	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs996356	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

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	nsv832384	chr12:41772648-41971430	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3501985	chr12:41847710-41863530	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
3	esv3501996	chr12:41847724-41863526	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
4	esv3337301	chr12:41851654-42093677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41829600-41860600	Weak transcription	Aorta	Aorta
2	chr12:41848600-41860800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:41853400-41860200	Weak transcription	Brain Germinal Matrix	brain
4	chr12:41855000-41859400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:41855000-41860600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:41855000-41861000	Weak transcription	Brain Anterior Caudate	brain
7	chr12:41855200-41859400	Weak transcription	Brain Substantia Nigra	brain
8	chr12:41855400-41860600	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:41857600-41860200	Enhancers	Colon Smooth Muscle	Colon
10	chr12:41858000-41859400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:41858400-41863000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:41858800-41859800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:41858800-41860200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:41859000-41862000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:41859200-41860200	Enhancers	HUVEC	blood vessel
16	chr12:41859200-41860400	Enhancers	Fetal Lung	lung

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