Variant report

Variant	rs11504034
Chromosome Location	chr12:58354289-58354290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10219484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172395	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11504032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312532	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv523853	chr12:58350631-58386722	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv975500	chr12:58351052-58362673	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336200-58356200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:58336200-58359600	Weak transcription	A549	lung
3	chr12:58336400-58359600	Weak transcription	HMEC	breast
4	chr12:58337200-58358400	Weak transcription	HepG2	liver
5	chr12:58350600-58355400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:58351200-58359400	Weak transcription	K562	blood
7	chr12:58351400-58355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:58351800-58354400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:58352200-58354800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:58352200-58358200	Weak transcription	Primary T cells from cord blood	blood
11	chr12:58352400-58354400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:58352400-58354600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:58352400-58354600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:58352400-58354600	Weak transcription	Left Ventricle	heart
15	chr12:58352400-58355600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr12:58352400-58359400	Weak transcription	Placenta	Placenta
17	chr12:58352600-58354400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:58352600-58354600	Weak transcription	Fetal Lung	lung
19	chr12:58352600-58354600	Weak transcription	Right Ventricle	heart
20	chr12:58352600-58354800	Weak transcription	Primary B cells from cord blood	blood
21	chr12:58352600-58355000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:58352600-58357800	Weak transcription	Dnd41	blood

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