Variant report

Variant	rs1481
Chromosome Location	chr17:66872802-66872803
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1373066	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs1443261	0.96[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs1443262	0.97[EUR][1000 genomes]
rs1470292	0.97[EUR][1000 genomes]
rs1470293	0.97[EUR][1000 genomes]
rs1470294	0.82[EUR][1000 genomes]
rs1550646	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1838101	0.97[EUR][1000 genomes]
rs1978962	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083790	0.95[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218350	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs2363753	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147992	1.00[JPT][hapmap]
rs4246431	0.96[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs4968826	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4968967	0.96[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57304003	1.00[ASN][1000 genomes]
rs6501813	0.97[EUR][1000 genomes]
rs6501835	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs6501839	0.96[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7209220	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7210022	0.93[EUR][1000 genomes]
rs7211979	0.96[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs7216817	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068204	0.96[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs8074944	0.95[CEU][hapmap];0.99[EUR][1000 genomes]
rs8078168	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080098	0.96[CEU][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs894594	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs980423	0.81[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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv908695	chr17:66865583-66904001	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66863600-66875600	Weak transcription	Fetal Stomach	stomach
2	chr17:66866400-66874200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:66866800-66883600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:66867200-66874400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:66867400-66874000	Weak transcription	Brain Anterior Caudate	brain
6	chr17:66867400-66876200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:66867800-66876200	Weak transcription	Osteobl	bone
8	chr17:66868400-66874200	Weak transcription	Right Ventricle	heart
9	chr17:66868600-66874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:66868800-66875800	Strong transcription	Ovary	ovary
11	chr17:66869200-66875800	Strong transcription	Liver	Liver
12	chr17:66869200-66876000	Strong transcription	Adipose Nuclei	Adipose
13	chr17:66869200-66876000	Strong transcription	Left Ventricle	heart
14	chr17:66869200-66903400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:66869400-66875400	Strong transcription	Brain Hippocampus Middle	brain
16	chr17:66869600-66875800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:66869600-66876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr17:66869800-66883400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:66870000-66874800	Weak transcription	Fetal Brain Male	brain
20	chr17:66870200-66875800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:66870200-66876000	Weak transcription	Brain Angular Gyrus	brain
22	chr17:66870400-66874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:66870400-66875400	Weak transcription	Psoas Muscle	Psoas
24	chr17:66870400-66875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:66870400-66876400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:66870600-66875600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr17:66870800-66877000	Weak transcription	Fetal Heart	heart
28	chr17:66871400-66873000	Strong transcription	Fetal Muscle Leg	muscle
29	chr17:66871400-66873600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr17:66871800-66875600	Weak transcription	Brain Substantia Nigra	brain
31	chr17:66872000-66873000	Strong transcription	Brain Cingulate Gyrus	brain
32	chr17:66872000-66875800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:66872000-66875800	Weak transcription	Gastric	stomach
34	chr17:66872200-66873600	Weak transcription	Spleen	Spleen
35	chr17:66872200-66875600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr17:66872200-66875600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:66872600-66873400	Weak transcription	Fetal Lung	lung
38	chr17:66872800-66873600	Weak transcription	Brain Inferior Temporal Lobe	brain

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