Variant report

Variant	rs878125
Chromosome Location	chr12:104296669-104296670
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104295034..104297157-chr12:104335931..104337836,2	K562	blood:
2	chr12:104293129..104295287-chr12:104295560..104297769,2	K562	blood:
3	chr12:104296301..104297835-chr12:104301480..104303235,2	K562	blood:
4	chr12:104296301..104298365-chr12:104301480..104303104,2	K562	blood:
5	chr12:104289438..104292235-chr12:104295462..104297467,2	K562	blood:
6	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166598	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1000295	0.91[JPT][hapmap]
rs10745982	0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10745983	0.92[ASN][1000 genomes]
rs10745986	0.99[ASN][1000 genomes]
rs10745987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10745988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10745989	0.89[ASN][1000 genomes]
rs10745990	0.93[ASN][1000 genomes]
rs10778291	0.94[ASN][1000 genomes]
rs10778293	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs10778294	0.92[ASN][1000 genomes]
rs10778295	0.86[ASN][1000 genomes]
rs10778297	0.99[ASN][1000 genomes]
rs10778298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10778299	0.99[ASN][1000 genomes]
rs10778300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10778301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10778302	0.97[ASN][1000 genomes]
rs10778303	0.99[ASN][1000 genomes]
rs10778304	0.99[ASN][1000 genomes]
rs10861126	0.95[ASN][1000 genomes]
rs10861128	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10861129	0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10861134	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10861135	0.99[ASN][1000 genomes]
rs10861136	0.87[ASN][1000 genomes]
rs10861137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10861138	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs10861139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10861140	0.99[ASN][1000 genomes]
rs11111822	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11111823	0.99[ASN][1000 genomes]
rs11111824	0.99[ASN][1000 genomes]
rs11111827	0.95[ASN][1000 genomes]
rs11111828	0.85[ASN][1000 genomes]
rs11613427	0.99[ASN][1000 genomes]
rs1165596	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1165597	0.93[ASN][1000 genomes]
rs1165598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1185985	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12312978	0.94[ASN][1000 genomes]
rs1583599	0.92[ASN][1000 genomes]
rs1595338	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1595339	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2033730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118313	0.91[JPT][hapmap]
rs2196614	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2248382	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2374350	0.95[ASN][1000 genomes]
rs2374351	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2374352	0.93[ASN][1000 genomes]
rs2374353	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2439622	0.97[ASN][1000 genomes]
rs2576950	0.91[ASN][1000 genomes]
rs2576957	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2576958	0.95[ASN][1000 genomes]
rs2576960	0.97[ASN][1000 genomes]
rs2576961	0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2576962	0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2576963	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2576964	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2576965	0.93[ASN][1000 genomes]
rs2576967	0.97[ASN][1000 genomes]
rs2576970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2583236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2583240	0.93[ASN][1000 genomes]
rs2583241	0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2583242	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2583243	0.95[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs2583245	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2583246	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2583247	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2583248	0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2583249	0.85[ASN][1000 genomes]
rs2583250	0.83[ASN][1000 genomes]
rs2888809	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2888810	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34978042	0.86[ASN][1000 genomes]
rs3850016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3850017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3850018	0.99[ASN][1000 genomes]
rs3850019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3850020	0.94[ASN][1000 genomes]
rs4316574	0.92[ASN][1000 genomes]
rs4488278	0.92[ASN][1000 genomes]
rs4491322	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4511355	0.99[ASN][1000 genomes]
rs4556622	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4964118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4964308	0.99[ASN][1000 genomes]
rs4964322	0.99[ASN][1000 genomes]
rs4964323	0.99[ASN][1000 genomes]
rs4964326	0.97[ASN][1000 genomes]
rs4964327	0.99[ASN][1000 genomes]
rs4964328	0.99[ASN][1000 genomes]
rs4964329	0.99[ASN][1000 genomes]
rs4964330	0.99[ASN][1000 genomes]
rs56205268	0.82[ASN][1000 genomes]
rs6539109	0.91[ASN][1000 genomes]
rs6539110	0.99[ASN][1000 genomes]
rs7136272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7136297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7138145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7138345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7138361	0.99[ASN][1000 genomes]
rs728165	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs728166	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7294443	0.95[ASN][1000 genomes]
rs7295172	0.95[ASN][1000 genomes]
rs7295268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7295285	0.95[ASN][1000 genomes]
rs7295499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7295782	0.83[ASN][1000 genomes]
rs7298496	0.99[ASN][1000 genomes]
rs7298653	0.99[ASN][1000 genomes]
rs7298655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7299349	0.90[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7301439	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7310988	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7311473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7312936	0.94[ASN][1000 genomes]
rs7314790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73175882	0.82[ASN][1000 genomes]
rs7488952	0.93[ASN][1000 genomes]
rs7956005	0.99[ASN][1000 genomes]
rs7956297	0.99[ASN][1000 genomes]
rs7957862	0.99[ASN][1000 genomes]
rs7963412	0.99[ASN][1000 genomes]
rs7964542	0.95[ASN][1000 genomes]
rs7964654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7967501	0.94[ASN][1000 genomes]
rs7970923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971070	0.93[ASN][1000 genomes]
rs7971105	0.99[ASN][1000 genomes]
rs7979423	0.92[ASN][1000 genomes]
rs7979748	0.80[ASN][1000 genomes]
rs7979749	0.84[ASN][1000 genomes]
rs878126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9888379	0.95[ASN][1000 genomes]
rs9943750	0.86[ASN][1000 genomes]
rs9943761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9943762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9943812	0.99[ASN][1000 genomes]
rs9943844	0.96[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs9988931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
2	chr12:104288400-104300000	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:104294200-104298600	Enhancers	Fetal Thymus	thymus
4	chr12:104294200-104299000	Enhancers	Thymus	Thymus
5	chr12:104295600-104297000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:104295600-104299000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:104295600-104299000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:104295600-104299200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:104295800-104297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:104295800-104298200	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:104295800-104303000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:104295800-104303200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:104295800-104303800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:104296000-104297000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:104296000-104298400	Enhancers	Primary T cells from cord blood	blood
16	chr12:104296000-104301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:104296200-104296800	Weak transcription	Spleen	Spleen

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