Variant report

Variant	rs3930724
Chromosome Location	chr12:11082310-11082311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10492103	0.89[EUR][1000 genomes]
rs10492104	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16916337	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16925519	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16925785	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16925805	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16925810	0.89[EUR][1000 genomes]
rs16925822	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16925834	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16925868	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16926141	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16926144	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16926148	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17743003	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17743104	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17743281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1868763	1.00[AMR][1000 genomes]
rs1868770	1.00[AMR][1000 genomes]
rs3851582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3851585	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3930723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3936285	0.89[EUR][1000 genomes]
rs718110	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7961175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11054400-11084800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:11065200-11093000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:11072200-11092800	Weak transcription	A549	lung
6	chr12:11078000-11089400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:11078400-11095800	Weak transcription	Primary B cells from cord blood	blood
8	chr12:11080000-11095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:11080000-11101600	Weak transcription	Left Ventricle	heart
10	chr12:11080400-11095400	Weak transcription	Psoas Muscle	Psoas
11	chr12:11081800-11082400	Enhancers	Lung	lung
12	chr12:11082000-11101000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:11082200-11094800	Weak transcription	HepG2	liver

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