Variant report

Variant	rs2462910
Chromosome Location	chr7:26969253-26969254
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	chr7:26966652..26968552-chr7:26968605..26970350,2	K562	blood:

Extended variants
information (count: 200 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:198)

rs_ID	r²[population]
rs10085721	0.89[CHB][hapmap]
rs10227140	0.89[CHB][hapmap]
rs10227231	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10227529	0.81[ASN][1000 genomes]
rs10227553	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227673	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10236221	0.81[ASN][1000 genomes]
rs10238645	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10239608	0.89[CHB][hapmap]
rs10242572	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10242754	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10244751	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10248500	0.81[ASN][1000 genomes]
rs10248684	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10251839	0.81[ASN][1000 genomes]
rs10256250	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10256561	0.89[CHB][hapmap]
rs10261915	0.88[CHB][hapmap]
rs10267950	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs10269731	0.89[CHB][hapmap]
rs10270187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272190	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272457	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10272603	0.81[ASN][1000 genomes]
rs10273468	0.88[CHB][hapmap]
rs10276471	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs10281261	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs10486478	0.89[JPT][hapmap]
rs10486483	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10486485	0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10951149	0.89[CHB][hapmap]
rs1123156	0.89[CHB][hapmap]
rs1123157	0.88[CHB][hapmap]
rs1123158	0.89[CHB][hapmap]
rs11563327	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11770043	0.89[CHB][hapmap]
rs11772673	0.89[CHB][hapmap]
rs11773029	0.89[CHB][hapmap]
rs12530718	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532796	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs12533561	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12534899	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12534901	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534912	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12534921	0.81[ASN][1000 genomes]
rs12535784	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12536145	0.81[ASN][1000 genomes]
rs12536560	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs12537323	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs12540045	0.81[ASN][1000 genomes]
rs12540388	0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs12540508	0.81[ASN][1000 genomes]
rs12700759	0.89[CHB][hapmap]
rs12700761	0.89[CHB][hapmap]
rs13234201	0.81[CEU][hapmap]
rs13234336	0.88[CHB][hapmap]
rs1327988	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs1327989	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs13438513	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs13438514	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1468203	0.89[CHB][hapmap]
rs1548478	0.89[CHB][hapmap]
rs1548479	0.89[CHB][hapmap]
rs17315775	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs17315929	0.89[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs17323934	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs17372780	0.89[CHB][hapmap]
rs17375272	0.81[ASN][1000 genomes]
rs17376018	0.81[ASN][1000 genomes]
rs17377696	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17436410	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471061	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17471088	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859101	0.89[CHB][hapmap]
rs1967332	0.81[ASN][1000 genomes]
rs1982995	0.81[ASN][1000 genomes]
rs2023819	0.89[CHB][hapmap]
rs2030136	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2031811	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2082365	0.89[CHB][hapmap]
rs2189016	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2189017	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs2189019	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs2248744	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2253415	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2254463	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2264802	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2264803	0.90[ASN][1000 genomes]
rs2391360	0.89[CHB][hapmap]
rs2391362	0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2428416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2428417	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2428418	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2428421	0.84[EUR][1000 genomes]
rs2428431	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2462900	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2462902	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2462904	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2465266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2465270	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs2465271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2522824	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2648076	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693659	0.84[EUR][1000 genomes]
rs2693662	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2693668	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2712234	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2712238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712242	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712244	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712245	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712246	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2712250	1.00[AFR][1000 genomes]
rs28550029	0.81[ASN][1000 genomes]
rs28816386	0.81[ASN][1000 genomes]
rs28883078	0.81[ASN][1000 genomes]
rs3213853	0.81[ASN][1000 genomes]
rs3801803	0.89[CHB][hapmap];0.82[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs3801805	0.86[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801807	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801808	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801809	0.81[ASN][1000 genomes]
rs3801810	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs3801812	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801813	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801814	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801815	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801816	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801819	0.88[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs3801820	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs3801821	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs3801825	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801827	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801828	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801830	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801840	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs3801842	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801843	0.89[CHB][hapmap]
rs3801844	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801848	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801850	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3801853	0.88[CHB][hapmap]
rs3801857	0.89[CHB][hapmap]
rs3801860	0.89[CHB][hapmap]
rs3801864	0.89[CHB][hapmap]
rs3823928	0.81[ASN][1000 genomes]
rs3823932	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3823933	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs3823934	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs3823936	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs3934268	0.81[ASN][1000 genomes]
rs4719882	0.81[ASN][1000 genomes]
rs4722630	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs4722631	0.89[CHB][hapmap]
rs4722647	0.81[ASN][1000 genomes]
rs5012512	0.89[CHB][hapmap]
rs55889667	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56144845	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56154570	0.81[ASN][1000 genomes]
rs57623217	0.81[ASN][1000 genomes]
rs59254259	0.81[ASN][1000 genomes]
rs61354389	0.81[ASN][1000 genomes]
rs62454249	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461963	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs6461964	0.89[CHB][hapmap]
rs6461965	0.89[CHB][hapmap]
rs6461971	0.89[CHB][hapmap]
rs6461979	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs6461980	0.81[ASN][1000 genomes]
rs6948657	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs6964094	0.89[CHB][hapmap]
rs6970591	0.89[CHB][hapmap]
rs6971397	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs6973237	0.89[CHB][hapmap]
rs727449	0.89[CHB][hapmap]
rs727450	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs73069507	0.81[ASN][1000 genomes]
rs73069510	0.81[ASN][1000 genomes]
rs73069533	0.81[ASN][1000 genomes]
rs73069540	0.83[ASN][1000 genomes]
rs73069541	0.83[ASN][1000 genomes]
rs7457076	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs763616	0.88[CHB][hapmap]
rs7785832	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs7791513	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7799888	0.88[CHB][hapmap]
rs7803699	0.89[CHB][hapmap]
rs7804356	0.89[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7804620	0.81[ASN][1000 genomes]
rs7805766	0.88[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7807640	0.89[CHB][hapmap]
rs7810109	0.89[CHB][hapmap]
rs7810127	0.89[CHB][hapmap]
rs891876	0.89[CHB][hapmap]
rs9648020	0.89[CHB][hapmap]
rs989250	0.89[CHB][hapmap]

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	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2462910	HOTAIRM1	cis	Whole Blood	GTEx
rs2462910	C7orf31	cis	parietal	SCAN
rs2462910	HOXA2	cis	Whole Blood	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26960400-26969600	Weak transcription	NHEK	skin
2	chr7:26968000-26971000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:26968200-26970800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:26968400-26970200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:26968800-26969400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:26968800-26969800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:26969000-26970000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:26969000-26970000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:26969200-26969600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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