Variant report

Variant	rs62400335
Chromosome Location	chr6:45347782-45347783
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45346603..45348483-chr6:45391933..45394862,2	K562	blood:
2	chr6:45346856..45348655-chr6:45382726..45385574,2	K562	blood:
3	chr6:45347663..45349409-chr6:45402335..45404228,2	K562	blood:
4	chr6:45332930..45339216-chr6:45342239..45349440,11	K562	blood:
5	chr6:45346566..45348180-chr6:45377916..45379555,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10456122	0.82[EUR][1000 genomes]
rs10456543	0.83[EUR][1000 genomes]
rs10456546	0.84[EUR][1000 genomes]
rs10456547	0.83[EUR][1000 genomes]
rs10456548	0.84[EUR][1000 genomes]
rs10456549	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10456553	0.85[ASN][1000 genomes]
rs10807321	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10948211	0.81[EUR][1000 genomes]
rs10948212	0.81[EUR][1000 genomes]
rs10948213	0.81[EUR][1000 genomes]
rs10948214	0.81[EUR][1000 genomes]
rs10948217	0.80[EUR][1000 genomes]
rs10948219	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10948220	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10948221	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10948223	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10948226	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10948233	0.92[ASN][1000 genomes]
rs11963924	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11964690	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11964844	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11965520	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11966878	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11968637	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12153922	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12190367	0.80[EUR][1000 genomes]
rs12191262	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12191566	0.81[EUR][1000 genomes]
rs12191751	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12192890	0.83[EUR][1000 genomes]
rs12193030	0.83[EUR][1000 genomes]
rs12194628	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12194682	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12196217	0.84[EUR][1000 genomes]
rs12198376	0.81[EUR][1000 genomes]
rs12199256	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12199507	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12199871	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12201555	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12201563	0.92[ASN][1000 genomes]
rs12201899	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12202232	0.84[EUR][1000 genomes]
rs12202434	0.82[EUR][1000 genomes]
rs12203466	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12203558	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12205379	0.84[EUR][1000 genomes]
rs12205468	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12205523	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12205642	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12205860	0.81[EUR][1000 genomes]
rs12205905	0.83[EUR][1000 genomes]
rs12206561	0.83[EUR][1000 genomes]
rs12206568	0.81[EUR][1000 genomes]
rs12210230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12211510	0.92[ASN][1000 genomes]
rs12211519	0.81[EUR][1000 genomes]
rs12211923	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12212745	0.82[EUR][1000 genomes]
rs12213644	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12213735	0.81[EUR][1000 genomes]
rs12214749	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12214885	0.83[EUR][1000 genomes]
rs12216308	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1321078	0.85[ASN][1000 genomes]
rs1321079	0.92[ASN][1000 genomes]
rs1321080	0.92[ASN][1000 genomes]
rs17209678	0.82[EUR][1000 genomes]
rs17209741	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17209769	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17288250	0.83[EUR][1000 genomes]
rs17288320	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17288327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852983	0.92[ASN][1000 genomes]
rs1852984	0.92[ASN][1000 genomes]
rs1853651	0.84[EUR][1000 genomes]
rs2093900	0.83[EUR][1000 genomes]
rs28583363	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4267941	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4288203	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4400216	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4443508	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4478406	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4479922	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4498350	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4544895	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55779653	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55964727	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56357385	0.84[EUR][1000 genomes]
rs56397204	0.83[EUR][1000 genomes]
rs58769170	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62400267	0.83[EUR][1000 genomes]
rs62400268	0.83[EUR][1000 genomes]
rs62400269	0.83[EUR][1000 genomes]
rs62400289	0.84[EUR][1000 genomes]
rs62400290	0.84[EUR][1000 genomes]
rs62400293	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62400317	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62400326	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62400330	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6919813	0.80[EUR][1000 genomes]
rs6919873	0.81[EUR][1000 genomes]
rs6919998	0.81[EUR][1000 genomes]
rs6920046	0.81[EUR][1000 genomes]
rs6927213	0.84[EUR][1000 genomes]
rs72857080	0.83[EUR][1000 genomes]
rs72858517	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72860105	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72862930	0.92[ASN][1000 genomes]
rs72870950	0.81[EUR][1000 genomes]
rs7449537	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv527552	chr6:45347644-45349509	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45346400-45351400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:45346600-45348000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:45346600-45349400	Weak transcription	Placenta	Placenta
4	chr6:45346600-45350200	Weak transcription	Right Atrium	heart
5	chr6:45346800-45349800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:45347000-45348000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr6:45347000-45348000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:45347000-45349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45347000-45355000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:45347200-45354200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:45347400-45350600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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