Variant report

Variant	rs13194360
Chromosome Location	chr6:12959815-12959816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10948372	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11755825	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11756003	0.91[EUR][1000 genomes]
rs34175679	0.91[EUR][1000 genomes]
rs35266083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35713382	0.81[AMR][1000 genomes]
rs36049381	0.89[EUR][1000 genomes]
rs4236093	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4588689	0.90[EUR][1000 genomes]
rs4711897	0.81[AMR][1000 genomes]
rs4715045	0.91[CEU][hapmap];0.81[AMR][1000 genomes]
rs59778206	0.82[ASN][1000 genomes]
rs62386820	0.90[EUR][1000 genomes]
rs62386821	0.89[EUR][1000 genomes]
rs6458577	0.86[ASN][1000 genomes]
rs66820937	0.91[EUR][1000 genomes]
rs6906017	0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6906890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923878	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs6929107	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7757180	0.86[ASN][1000 genomes]
rs7769758	0.86[ASN][1000 genomes]
rs7775566	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs7775710	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9473070	0.84[ASN][1000 genomes]
rs9473082	0.86[ASN][1000 genomes]
rs9473086	0.81[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12957000-12960000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:12957200-12960200	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:12957200-12961400	Active TSS	Aorta	Aorta
4	chr6:12958200-12962200	Weak transcription	Spleen	Spleen
5	chr6:12958200-12963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:12958400-12962800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:12958600-12963200	Weak transcription	Primary B cells from cord blood	blood
8	chr6:12958800-12962400	Weak transcription	Pancreas	Pancrea
9	chr6:12958800-12962800	Weak transcription	NHEK	skin
10	chr6:12958800-12963200	Weak transcription	NHLF	lung
11	chr6:12959000-12962000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr6:12959000-12962800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:12959000-12962800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:12959000-12963000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:12959000-12963000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:12959000-12963000	Weak transcription	Fetal Stomach	stomach
17	chr6:12959000-12963000	Weak transcription	HSMMtube	muscle
18	chr6:12959000-12963000	Weak transcription	NH-A	brain
19	chr6:12959000-12963000	Weak transcription	NHDF-Ad	bronchial
20	chr6:12959200-12960000	Weak transcription	Brain Angular Gyrus	brain
21	chr6:12959200-12960000	Weak transcription	Brain Substantia Nigra	brain
22	chr6:12959200-12960000	Enhancers	HUVEC	blood vessel
23	chr6:12959200-12960400	Weak transcription	Brain Germinal Matrix	brain
24	chr6:12959200-12960600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr6:12959200-12961600	Enhancers	Brain Anterior Caudate	brain
26	chr6:12959200-12962000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:12959200-12962000	Weak transcription	Right Ventricle	heart
28	chr6:12959200-12962200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:12959200-12962200	Weak transcription	Right Atrium	heart
30	chr6:12959200-12962400	Weak transcription	HSMM	muscle
31	chr6:12959200-12963000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:12959200-12963400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:12959200-12964000	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:12959200-12968000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:12959400-12960200	Enhancers	Brain Hippocampus Middle	brain
36	chr6:12959400-12960600	Weak transcription	Left Ventricle	heart
37	chr6:12959400-12961000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:12959400-12962000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:12959400-12962000	Weak transcription	Lung	lung
40	chr6:12959600-12960200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:12959600-12960200	Enhancers	Fetal Kidney	kidney
42	chr6:12959600-12961000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr6:12959800-12960000	Enhancers	Colon Smooth Muscle	Colon
44	chr6:12959800-12960200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:12959800-12960200	Flanking Active TSS	Fetal Heart	heart

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