Variant report

Variant	rs4768334
Chromosome Location	chr12:41599478-41599479
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:25)

rs_ID	r²[population]
rs10748267	0.90[ASN][1000 genomes]
rs10785186	0.91[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10879831	0.83[ASN][1000 genomes]
rs10879858	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs10879867	1.00[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11180448	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12829840	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431104	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs1431110	0.91[ASN][1000 genomes]
rs1431112	1.00[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1527086	0.87[CHB][hapmap]
rs1864611	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs1864613	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs2163416	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281830	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4238081	0.90[ASN][1000 genomes]
rs4767999	0.88[ASN][1000 genomes]
rs6582240	0.82[JPT][hapmap]
rs7303285	0.82[JPT][hapmap]
rs7305919	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7342366	1.00[CHB][hapmap]
rs7954881	0.90[ASN][1000 genomes]
rs7960429	0.85[CEU][hapmap]
rs7963760	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs975602	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr12:41599000-41599600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:41599000-41599600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:41599000-41599600	Active TSS	Brain Angular Gyrus	brain
4	chr12:41599000-41599600	Active TSS	Brain Anterior Caudate	brain
5	chr12:41599000-41599600	Active TSS	Brain Cingulate Gyrus	brain
6	chr12:41599000-41599600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:41599000-41599600	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:41599000-41599600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr12:41599000-41599600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr12:41599000-41599600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr12:41599000-41599600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr12:41599000-41599600	Flanking Active TSS	Rectal Smooth Muscle	rectum
13	chr12:41599000-41599600	Active TSS	Right Atrium	heart
14	chr12:41599000-41599800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:41599200-41599600	Active TSS	Adipose Nuclei	Adipose
16	chr12:41599200-41599600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:41599200-41599600	Active TSS	Colon Smooth Muscle	Colon
18	chr12:41599200-41599600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:41599200-41599800	Active TSS	Ovary	ovary
20	chr12:41599200-41600000	Active TSS	Aorta	Aorta
21	chr12:41599200-41600000	Active TSS	Stomach Smooth Muscle	stomach
22	chr12:41599400-41599800	Enhancers	Liver	Liver
23	chr12:41599400-41599800	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr12:41599400-41599800	Flanking Active TSS	Brain Substantia Nigra	brain

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