Variant report

Variant	rs10243893
Chromosome Location	chr7:64312468-64312469
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	chr7:64311106..64313068-chr7:64322025..64324713,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF138-2	chr7:64312177-64314178	NONHSAT121039
2	lnc-ZNF138-2	chr7:64312180-64312494	NONHSAT121044

Variant related genes	Relation type
ENSG00000213640	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10215071	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240996	0.81[EUR][1000 genomes]
rs10278052	0.81[EUR][1000 genomes]
rs1060382	0.81[EUR][1000 genomes]
rs10807685	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11972247	0.81[EUR][1000 genomes]
rs11974747	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11978819	0.81[EUR][1000 genomes]
rs12154807	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222878	0.81[EUR][1000 genomes]
rs13224405	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227838	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229671	0.81[EUR][1000 genomes]
rs13229816	0.81[EUR][1000 genomes]
rs13230970	0.81[EUR][1000 genomes]
rs13247620	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247815	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404453	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs1405004	0.82[CEU][hapmap]
rs1525813	0.82[CEU][hapmap]
rs1608713	0.81[EUR][1000 genomes]
rs1608716	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1608717	0.89[JPT][hapmap]
rs1815164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852015	0.81[EUR][1000 genomes]
rs1970879	0.81[EUR][1000 genomes]
rs2177660	0.81[EUR][1000 genomes]
rs28841902	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34216774	0.81[EUR][1000 genomes]
rs3807070	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs3829004	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4607487	0.89[JPT][hapmap]
rs4618579	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs4717229	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4718173	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs4718174	0.81[EUR][1000 genomes]
rs55872770	0.81[EUR][1000 genomes]
rs58301601	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58685854	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62455060	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62455112	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455114	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455115	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455116	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455117	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455120	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455122	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455123	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455575	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455577	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62455579	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62455580	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455581	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455582	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455583	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62455586	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62455588	0.81[EUR][1000 genomes]
rs62455631	0.81[EUR][1000 genomes]
rs62455632	0.81[EUR][1000 genomes]
rs62455636	0.81[EUR][1000 genomes]
rs62455639	0.81[EUR][1000 genomes]
rs62455642	0.81[EUR][1000 genomes]
rs62455644	0.81[EUR][1000 genomes]
rs62456466	0.81[EUR][1000 genomes]
rs62456467	0.81[EUR][1000 genomes]
rs62456468	0.81[EUR][1000 genomes]
rs62456469	0.81[EUR][1000 genomes]
rs62456470	0.81[EUR][1000 genomes]
rs62456471	0.81[EUR][1000 genomes]
rs62456475	0.81[EUR][1000 genomes]
rs62456476	0.81[EUR][1000 genomes]
rs62456478	0.81[EUR][1000 genomes]
rs62456480	0.81[EUR][1000 genomes]
rs62456482	0.81[EUR][1000 genomes]
rs62456823	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456824	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62456827	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456837	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456838	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456841	0.97[ASN][1000 genomes]
rs62456842	0.89[ASN][1000 genomes]
rs62456843	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62456844	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458369	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458370	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458371	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458372	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62458373	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62458374	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458375	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458427	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458428	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458436	0.88[EUR][1000 genomes]
rs6460186	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460215	0.81[EUR][1000 genomes]
rs6460218	0.81[EUR][1000 genomes]
rs6460219	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs6944240	0.81[EUR][1000 genomes]
rs7784273	0.81[EUR][1000 genomes]
rs7790578	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs7796144	0.81[EUR][1000 genomes]
rs7797427	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7799463	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs7809677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810102	0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs7812013	0.81[EUR][1000 genomes]
rs9638412	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1797468	chr7:64296309-64356050	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64310400-64312800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:64310400-64313800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:64310400-64320600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:64310600-64313200	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:64311600-64314600	Weak transcription	Stomach Smooth Muscle	stomach

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