Variant report

Variant	rs11942593
Chromosome Location	chr4:143626567-143626568
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	chr4:143535588..143538325-chr4:143625041..143627552,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10020797	0.96[ASN][1000 genomes]
rs1017527	0.86[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs1019643	0.83[MEX][hapmap]
rs1031104	0.81[CHD][hapmap]
rs10857396	0.85[ASN][1000 genomes]
rs11100753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1116689	0.82[ASN][1000 genomes]
rs11937786	0.96[ASN][1000 genomes]
rs12163905	0.90[ASN][1000 genomes]
rs12504610	0.96[ASN][1000 genomes]
rs12508480	0.81[ASN][1000 genomes]
rs12509465	0.90[ASN][1000 genomes]
rs12645567	0.82[ASN][1000 genomes]
rs12650777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13102826	0.90[ASN][1000 genomes]
rs13120964	0.82[ASN][1000 genomes]
rs13129274	0.90[ASN][1000 genomes]
rs13147451	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs13149611	0.87[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.90[ASN][1000 genomes]
rs13150837	0.95[ASN][1000 genomes]
rs1373034	0.86[ASN][1000 genomes]
rs1373035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373038	0.90[ASN][1000 genomes]
rs1373039	0.90[ASN][1000 genomes]
rs1373040	0.87[ASN][1000 genomes]
rs1425522	0.83[MEX][hapmap]
rs1443184	0.90[ASN][1000 genomes]
rs1443187	0.87[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs1443188	0.87[ASN][1000 genomes]
rs1443189	0.90[ASN][1000 genomes]
rs1443190	0.87[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.87[ASN][1000 genomes]
rs17016514	0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs17016768	0.89[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.89[LWK][hapmap];0.81[YRI][hapmap]
rs1814061	0.90[ASN][1000 genomes]
rs1822363	0.90[ASN][1000 genomes]
rs1838085	0.90[ASN][1000 genomes]
rs1838087	0.90[ASN][1000 genomes]
rs2008423	0.87[ASN][1000 genomes]
rs2120159	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2120160	0.91[ASN][1000 genomes]
rs2197215	0.87[ASN][1000 genomes]
rs331945	0.89[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.89[LWK][hapmap];0.81[YRI][hapmap]
rs3967128	0.90[ASN][1000 genomes]
rs4690722	0.95[ASN][1000 genomes]
rs4690727	0.86[AFR][1000 genomes]
rs6537122	0.90[ASN][1000 genomes]
rs6537129	0.89[CHB][hapmap]
rs6845652	0.82[ASN][1000 genomes]
rs72726477	0.82[ASN][1000 genomes]
rs72728615	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72728621	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728661	0.81[ASN][1000 genomes]
rs7376422	0.84[CEU][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs7434560	0.90[ASN][1000 genomes]
rs7437824	0.81[ASN][1000 genomes]
rs745719	0.87[ASN][1000 genomes]
rs7656375	0.89[CHB][hapmap]
rs7663475	0.89[CHB][hapmap]
rs7666140	0.89[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs7670457	0.91[ASN][1000 genomes]
rs7671783	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7675305	0.87[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs7682731	0.87[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs7685002	0.90[ASN][1000 genomes]
rs7685086	0.87[ASN][1000 genomes]
rs7688435	0.87[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs894584	0.90[ASN][1000 genomes]
rs894585	0.87[ASN][1000 genomes]
rs962372	0.90[ASN][1000 genomes]
rs978361	0.89[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.87[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	nsv830101	chr4:143518810-143684392	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11942593	POU4F2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143616000-143628800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr4:143616800-143629600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:143620800-143642000	Weak transcription	Fetal Heart	heart
4	chr4:143622200-143628000	Enhancers	Primary T cells from cord blood	blood
5	chr4:143622200-143629200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:143622600-143628600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr4:143624200-143626600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:143624400-143627200	Enhancers	Fetal Thymus	thymus
9	chr4:143624400-143629400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr4:143624800-143628000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr4:143625200-143627200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr4:143625200-143629600	Weak transcription	Aorta	Aorta
13	chr4:143625200-143641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:143625400-143627200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr4:143625400-143627200	Enhancers	Thymus	Thymus
16	chr4:143625400-143629800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:143626000-143628200	Enhancers	Primary hematopoietic stem cells	blood
18	chr4:143626200-143626600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:143626200-143627200	Enhancers	Dnd41	blood
20	chr4:143626200-143628400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:143626400-143626600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:143626400-143627200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:143626400-143628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:143626400-143628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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