Variant report

Variant	rs59973578
Chromosome Location	chr12:4216589-4216590
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:4216482..4217070-chr12:4385866..4386804,2	NB4	blood:
2	chr12:4215784..4218050-chr12:4385145..4387428,2	K562	blood:
3	chr12:4216455..4217156-chr12:4385829..4386409,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118971	Chromatin interaction
ENSG00000256164	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11829820	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11831112	0.96[AFR][1000 genomes]
rs11831812	1.00[ASN][1000 genomes]
rs11832475	1.00[AMR][1000 genomes]
rs11834077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11834174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11836558	1.00[AMR][1000 genomes]
rs11837775	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838249	1.00[ASN][1000 genomes]
rs1558614	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1558615	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16931100	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16931124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16931128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16931131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16931139	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16931141	1.00[ASN][1000 genomes]
rs2429453	1.00[ASN][1000 genomes]
rs2532531	0.87[ASN][1000 genomes]
rs2532532	1.00[ASN][1000 genomes]
rs2532533	1.00[ASN][1000 genomes]
rs2532535	1.00[ASN][1000 genomes]
rs2532575	1.00[ASN][1000 genomes]
rs2532576	1.00[ASN][1000 genomes]
rs2540143	1.00[ASN][1000 genomes]
rs2540144	1.00[ASN][1000 genomes]
rs2540145	1.00[ASN][1000 genomes]
rs2540146	1.00[ASN][1000 genomes]
rs2540147	1.00[ASN][1000 genomes]
rs2540150	1.00[ASN][1000 genomes]
rs2724206	0.82[ASN][1000 genomes]
rs2724231	1.00[ASN][1000 genomes]
rs2724232	1.00[ASN][1000 genomes]
rs2724233	1.00[ASN][1000 genomes]
rs36097138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4525313	1.00[ASN][1000 genomes]
rs55772551	1.00[ASN][1000 genomes]
rs55787213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55825747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55891544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56773631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56891486	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57196809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58592888	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58736101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58775468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58927319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59549730	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59746697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59810408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59914894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60036022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60989334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257568	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257583	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257588	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257599	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257601	1.00[AMR][1000 genomes]
rs73259527	1.00[ASN][1000 genomes]
rs73259530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259533	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73259546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259553	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73259574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259596	1.00[ASN][1000 genomes]
rs74058994	1.00[ASN][1000 genomes]
rs74061519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74061522	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74061528	1.00[ASN][1000 genomes]
rs7973836	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4215400-4217400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr12:4215600-4216600	Enhancers	GM12878-XiMat	blood
3	chr12:4215600-4217000	Enhancers	Primary T cells from cord blood	blood
4	chr12:4215600-4217000	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:4215600-4217200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr12:4215800-4216600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:4215800-4217000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:4215800-4217000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:4215800-4217000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:4215800-4217200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:4216000-4217000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr12:4216000-4217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:4216000-4224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:4216200-4217000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:4216200-4217000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:4216200-4217200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:4216400-4216800	Weak transcription	Fetal Thymus	thymus
18	chr12:4216400-4216800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:4216400-4217000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:4216400-4217000	Enhancers	Primary B cells from cord blood	blood
21	chr12:4216400-4217000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:4216400-4217000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:4216400-4217000	Enhancers	Duodenum Mucosa	Duodenum
24	chr12:4216400-4218600	Enhancers	Primary monocytes fromperipheralblood	blood

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