Variant report

Variant	rs56205268
Chromosome Location	chr12:104279994-104279995
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	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:
2	chr12:104262529..104265193-chr12:104278298..104280290,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10745982	0.81[ASN][1000 genomes]
rs10745983	0.82[ASN][1000 genomes]
rs10745986	0.82[ASN][1000 genomes]
rs10745987	0.82[ASN][1000 genomes]
rs10745988	0.82[ASN][1000 genomes]
rs10745990	0.82[ASN][1000 genomes]
rs10778294	0.82[ASN][1000 genomes]
rs10778297	0.82[ASN][1000 genomes]
rs10778298	0.82[ASN][1000 genomes]
rs10778299	0.82[ASN][1000 genomes]
rs10778300	0.85[ASN][1000 genomes]
rs10778301	0.86[ASN][1000 genomes]
rs10778302	0.81[ASN][1000 genomes]
rs10778303	0.82[ASN][1000 genomes]
rs10778304	0.82[ASN][1000 genomes]
rs10861124	0.83[EUR][1000 genomes]
rs10861129	0.82[ASN][1000 genomes]
rs10861134	0.82[ASN][1000 genomes]
rs10861135	0.82[ASN][1000 genomes]
rs10861137	0.82[ASN][1000 genomes]
rs10861138	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861139	0.82[ASN][1000 genomes]
rs10861140	0.82[ASN][1000 genomes]
rs10861141	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11111822	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11111823	0.82[ASN][1000 genomes]
rs11111824	0.82[ASN][1000 genomes]
rs11111827	0.80[ASN][1000 genomes]
rs11111828	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11111832	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11613427	0.82[ASN][1000 genomes]
rs1165598	0.81[ASN][1000 genomes]
rs12368121	0.83[EUR][1000 genomes]
rs12368164	0.83[EUR][1000 genomes]
rs1583599	0.82[ASN][1000 genomes]
rs1595338	0.82[ASN][1000 genomes]
rs2033730	0.83[ASN][1000 genomes]
rs2118313	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2196614	0.82[ASN][1000 genomes]
rs2374350	0.85[ASN][1000 genomes]
rs2374351	0.85[ASN][1000 genomes]
rs2374352	0.83[ASN][1000 genomes]
rs2374353	0.82[ASN][1000 genomes]
rs2439622	0.80[ASN][1000 genomes]
rs2576950	0.81[ASN][1000 genomes]
rs2576960	0.80[ASN][1000 genomes]
rs2576961	0.80[ASN][1000 genomes]
rs2576962	0.80[ASN][1000 genomes]
rs2576963	0.83[ASN][1000 genomes]
rs2576964	0.83[ASN][1000 genomes]
rs2576965	0.83[ASN][1000 genomes]
rs2576967	0.81[ASN][1000 genomes]
rs2583236	0.82[ASN][1000 genomes]
rs2583240	0.83[ASN][1000 genomes]
rs2583241	0.83[ASN][1000 genomes]
rs2583242	0.83[ASN][1000 genomes]
rs2583243	0.80[ASN][1000 genomes]
rs2583245	0.80[ASN][1000 genomes]
rs2583246	0.80[ASN][1000 genomes]
rs2583248	0.82[ASN][1000 genomes]
rs2888809	0.85[ASN][1000 genomes]
rs2888810	0.85[ASN][1000 genomes]
rs3850016	0.82[ASN][1000 genomes]
rs3850017	0.82[ASN][1000 genomes]
rs3850018	0.82[ASN][1000 genomes]
rs3850019	0.82[ASN][1000 genomes]
rs3887987	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4316574	0.82[ASN][1000 genomes]
rs4488278	0.82[ASN][1000 genomes]
rs4491322	0.82[ASN][1000 genomes]
rs4511355	0.82[ASN][1000 genomes]
rs4556622	0.82[ASN][1000 genomes]
rs4964118	0.82[ASN][1000 genomes]
rs4964308	0.82[ASN][1000 genomes]
rs4964322	0.82[ASN][1000 genomes]
rs4964323	0.82[ASN][1000 genomes]
rs4964326	0.81[ASN][1000 genomes]
rs4964327	0.82[ASN][1000 genomes]
rs4964328	0.82[ASN][1000 genomes]
rs4964329	0.82[ASN][1000 genomes]
rs4964330	0.82[ASN][1000 genomes]
rs6539109	0.81[ASN][1000 genomes]
rs6539110	0.82[ASN][1000 genomes]
rs7136272	0.85[ASN][1000 genomes]
rs7136297	0.85[ASN][1000 genomes]
rs7138145	0.82[ASN][1000 genomes]
rs7138345	0.82[ASN][1000 genomes]
rs7138361	0.82[ASN][1000 genomes]
rs728166	0.94[ASN][1000 genomes]
rs7294443	0.85[ASN][1000 genomes]
rs7295172	0.85[ASN][1000 genomes]
rs7295268	0.85[ASN][1000 genomes]
rs7295285	0.85[ASN][1000 genomes]
rs7295499	0.84[ASN][1000 genomes]
rs7298496	0.82[ASN][1000 genomes]
rs7298653	0.82[ASN][1000 genomes]
rs7298655	0.85[ASN][1000 genomes]
rs7299349	0.82[ASN][1000 genomes]
rs7301439	0.85[ASN][1000 genomes]
rs7310988	0.85[ASN][1000 genomes]
rs7311473	0.85[ASN][1000 genomes]
rs7312936	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7314790	0.85[ASN][1000 genomes]
rs7315838	0.81[EUR][1000 genomes]
rs73175882	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488952	0.83[ASN][1000 genomes]
rs7956005	0.82[ASN][1000 genomes]
rs7956297	0.82[ASN][1000 genomes]
rs7957862	0.82[ASN][1000 genomes]
rs7963412	0.82[ASN][1000 genomes]
rs7964542	0.85[ASN][1000 genomes]
rs7964654	0.85[ASN][1000 genomes]
rs7967862	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7970923	0.81[ASN][1000 genomes]
rs7971105	0.82[ASN][1000 genomes]
rs7979423	0.82[ASN][1000 genomes]
rs878125	0.82[ASN][1000 genomes]
rs878126	0.83[ASN][1000 genomes]
rs9888379	0.85[ASN][1000 genomes]
rs9943761	0.82[ASN][1000 genomes]
rs9943762	0.82[ASN][1000 genomes]
rs9943812	0.82[ASN][1000 genomes]
rs9943844	0.82[ASN][1000 genomes]
rs9988931	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv977145	chr12:104273790-104283207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv1824869	chr12:104279562-104286956	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1832179	chr12:104279562-104286956	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv18895	chr12:104279566-104287336	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv560040	chr12:104279718-104283721	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104275000-104281600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
3	chr12:104278800-104280200	Weak transcription	GM12878-XiMat	blood
4	chr12:104279200-104284200	Weak transcription	Thymus	Thymus

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