Variant report

Variant	rs6490226
Chromosome Location	chr12:119446811-119446812
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10775013	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12309091	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1525949	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525950	0.82[EUR][1000 genomes]
rs1568922	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393465	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490225	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7297741	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7966299	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs7969449	0.90[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs869715	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:119443000-119447600	Enhancers	Fetal Brain Male	brain
3	chr12:119446200-119447200	Enhancers	Pancreas	Pancrea
4	chr12:119446200-119447600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:119446400-119447000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr12:119446400-119447200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr12:119446400-119447400	Flanking Active TSS	Fetal Brain Female	brain
8	chr12:119446600-119447000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:119446600-119447000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:119446600-119447000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:119446600-119447000	Active TSS	Brain Germinal Matrix	brain
12	chr12:119446600-119447200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:119446600-119447200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:119446600-119447200	Enhancers	Gastric	stomach
15	chr12:119446600-119447400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
16	chr12:119446600-119447600	Bivalent Enhancer	Fetal Stomach	stomach
17	chr12:119446800-119447000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr12:119446800-119447000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:119446800-119447000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:119446800-119447000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr12:119446800-119447000	Bivalent Enhancer	Brain Hippocampus Middle	brain
22	chr12:119446800-119447000	Bivalent Enhancer	Brain Substantia Nigra	brain
23	chr12:119446800-119447000	Flanking Bivalent TSS/Enh	Fetal Lung	lung
24	chr12:119446800-119447000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr12:119446800-119447000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr12:119446800-119447200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr12:119446800-119447200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:119446800-119447200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:119446800-119447200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr12:119446800-119447200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:119446800-119447400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr12:119446800-119447400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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