Variant report

Variant	rs1736565
Chromosome Location	chr1:171112490-171112491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1736556	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1736560	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs1736561	0.84[EUR][1000 genomes]
rs1736564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1736567	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1736568	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795240	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795244	0.82[CEU][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1795245	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1795248	0.86[EUR][1000 genomes]
rs2075992	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281003	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs4916390	0.81[EUR][1000 genomes]
rs6608461	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171108000-171112600	Weak transcription	Small Intestine	intestine
2	chr1:171108400-171112800	Enhancers	NHLF	lung
3	chr1:171108800-171112800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:171109400-171112800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:171110800-171114600	Enhancers	Fetal Lung	lung
6	chr1:171111200-171112600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:171111400-171112600	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr1:171111400-171113000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:171111600-171112600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:171111600-171112800	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:171111800-171112600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:171111800-171113000	Enhancers	Brain Angular Gyrus	brain
13	chr1:171112000-171112600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:171112000-171112600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:171112000-171112600	Active TSS	Right Atrium	heart
16	chr1:171112000-171112800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:171112200-171112600	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:171112200-171112800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:171112200-171112800	Enhancers	Psoas Muscle	Psoas
20	chr1:171112200-171112800	Enhancers	NHDF-Ad	bronchial
21	chr1:171112200-171113000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:171112200-171113000	Weak transcription	Stomach Mucosa	stomach
23	chr1:171112200-171120600	Weak transcription	Fetal Kidney	kidney
24	chr1:171112400-171113000	Enhancers	Liver	Liver
25	chr1:171112400-171121800	Weak transcription	Aorta	Aorta

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