Variant report

Variant	rs11111828
Chromosome Location	chr12:104294140-104294141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104294085..104296480-chr12:104308577..104310101,2	K562	blood:
2	chr12:104293129..104295287-chr12:104295560..104297769,2	K562	blood:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10745986	0.85[ASN][1000 genomes]
rs10745987	0.85[ASN][1000 genomes]
rs10745988	0.85[ASN][1000 genomes]
rs10778291	0.81[ASN][1000 genomes]
rs10778297	0.85[ASN][1000 genomes]
rs10778298	0.85[ASN][1000 genomes]
rs10778299	0.85[ASN][1000 genomes]
rs10778300	0.82[ASN][1000 genomes]
rs10778301	0.82[ASN][1000 genomes]
rs10778302	0.84[ASN][1000 genomes]
rs10778303	0.85[ASN][1000 genomes]
rs10778304	0.85[ASN][1000 genomes]
rs10861124	0.82[EUR][1000 genomes]
rs10861126	0.82[ASN][1000 genomes]
rs10861128	0.81[ASN][1000 genomes]
rs10861134	0.85[ASN][1000 genomes]
rs10861135	0.85[ASN][1000 genomes]
rs10861137	0.85[ASN][1000 genomes]
rs10861138	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10861139	0.85[ASN][1000 genomes]
rs10861140	0.85[ASN][1000 genomes]
rs10861141	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11111822	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11111823	0.85[ASN][1000 genomes]
rs11111824	0.85[ASN][1000 genomes]
rs11111827	0.83[ASN][1000 genomes]
rs11111832	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11613427	0.85[ASN][1000 genomes]
rs1165596	0.81[ASN][1000 genomes]
rs1165597	0.80[ASN][1000 genomes]
rs1185985	0.81[ASN][1000 genomes]
rs12312978	0.81[ASN][1000 genomes]
rs12368121	0.82[EUR][1000 genomes]
rs12368164	0.82[EUR][1000 genomes]
rs1595339	0.82[ASN][1000 genomes]
rs2033730	0.86[ASN][1000 genomes]
rs2118313	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248382	0.80[ASN][1000 genomes]
rs2374350	0.82[ASN][1000 genomes]
rs2374351	0.82[ASN][1000 genomes]
rs2439622	0.83[ASN][1000 genomes]
rs2576957	0.82[ASN][1000 genomes]
rs2576958	0.82[ASN][1000 genomes]
rs2576960	0.83[ASN][1000 genomes]
rs2576961	0.83[ASN][1000 genomes]
rs2576962	0.83[ASN][1000 genomes]
rs2576967	0.84[ASN][1000 genomes]
rs2583236	0.85[ASN][1000 genomes]
rs2583243	0.83[ASN][1000 genomes]
rs2583245	0.83[ASN][1000 genomes]
rs2583246	0.83[ASN][1000 genomes]
rs2583247	0.82[ASN][1000 genomes]
rs2888809	0.82[ASN][1000 genomes]
rs2888810	0.82[ASN][1000 genomes]
rs3850016	0.85[ASN][1000 genomes]
rs3850017	0.85[ASN][1000 genomes]
rs3850018	0.85[ASN][1000 genomes]
rs3850019	0.85[ASN][1000 genomes]
rs3850020	0.81[ASN][1000 genomes]
rs3887987	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4491322	0.85[ASN][1000 genomes]
rs4511355	0.85[ASN][1000 genomes]
rs4964118	0.85[ASN][1000 genomes]
rs4964308	0.85[ASN][1000 genomes]
rs4964322	0.85[ASN][1000 genomes]
rs4964323	0.85[ASN][1000 genomes]
rs4964326	0.84[ASN][1000 genomes]
rs4964327	0.85[ASN][1000 genomes]
rs4964328	0.85[ASN][1000 genomes]
rs4964329	0.85[ASN][1000 genomes]
rs4964330	0.85[ASN][1000 genomes]
rs56205268	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539110	0.85[ASN][1000 genomes]
rs7136272	0.82[ASN][1000 genomes]
rs7136297	0.82[ASN][1000 genomes]
rs7138145	0.85[ASN][1000 genomes]
rs7138345	0.85[ASN][1000 genomes]
rs7138361	0.85[ASN][1000 genomes]
rs728165	0.82[ASN][1000 genomes]
rs728166	0.97[ASN][1000 genomes]
rs7294443	0.82[ASN][1000 genomes]
rs7295172	0.82[ASN][1000 genomes]
rs7295268	0.82[ASN][1000 genomes]
rs7295285	0.82[ASN][1000 genomes]
rs7295499	0.80[ASN][1000 genomes]
rs7298496	0.85[ASN][1000 genomes]
rs7298653	0.85[ASN][1000 genomes]
rs7298655	0.82[ASN][1000 genomes]
rs7299349	0.85[ASN][1000 genomes]
rs7301439	0.82[ASN][1000 genomes]
rs7310988	0.82[ASN][1000 genomes]
rs7311473	0.82[ASN][1000 genomes]
rs7312936	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7314790	0.82[ASN][1000 genomes]
rs73175882	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956005	0.85[ASN][1000 genomes]
rs7956297	0.85[ASN][1000 genomes]
rs7957862	0.85[ASN][1000 genomes]
rs7963412	0.85[ASN][1000 genomes]
rs7964542	0.82[ASN][1000 genomes]
rs7964654	0.82[ASN][1000 genomes]
rs7967501	0.81[ASN][1000 genomes]
rs7967862	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7970923	0.84[ASN][1000 genomes]
rs7971105	0.85[ASN][1000 genomes]
rs878125	0.85[ASN][1000 genomes]
rs878126	0.86[ASN][1000 genomes]
rs9888379	0.82[ASN][1000 genomes]
rs9943761	0.85[ASN][1000 genomes]
rs9943762	0.85[ASN][1000 genomes]
rs9943812	0.85[ASN][1000 genomes]
rs9943844	0.85[ASN][1000 genomes]
rs9988931	0.82[ASN][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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv2616568	chr12:104292875-104294553	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104284600-104294200	Weak transcription	Thymus	Thymus
3	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:104292200-104294200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr12:104293200-104294800	Enhancers	Primary T cells from cord blood	blood
6	chr12:104293800-104295400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:104294000-104295000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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