Variant report

Variant	rs1008183
Chromosome Location	chr15:44224147-44224148
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:29)

rs_ID	r²[population]
rs1077421	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11070413	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070416	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11630936	1.00[CEU][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11635039	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11637468	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12439442	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440402	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12442168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16944774	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs16945686	1.00[CEU][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16950215	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2306674	1.00[CEU][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28377221	0.88[EUR][1000 genomes]
rs28438984	0.91[EUR][1000 genomes]
rs28525216	0.90[TSI][hapmap]
rs28542819	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28599486	0.86[EUR][1000 genomes]
rs28685813	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28706414	0.88[EUR][1000 genomes]
rs3742981	1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs3850777	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55927923	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60484809	0.86[EUR][1000 genomes]
rs7178452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806129	0.91[EUR][1000 genomes]
rs9920164	1.00[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][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	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr15:44211800-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:44212400-44225000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:44214000-44224400	Weak transcription	Right Atrium	heart
4	chr15:44218000-44225600	Enhancers	Fetal Heart	heart
5	chr15:44218600-44228400	Enhancers	Brain Substantia Nigra	brain
6	chr15:44219600-44225000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:44219600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:44219800-44225200	Weak transcription	NHEK	skin
9	chr15:44220400-44227400	Enhancers	Brain Cingulate Gyrus	brain
10	chr15:44220400-44227600	Enhancers	Brain Hippocampus Middle	brain
11	chr15:44220800-44227400	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr15:44221000-44225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr15:44221200-44227400	Enhancers	Brain Anterior Caudate	brain
14	chr15:44221400-44227200	Enhancers	Brain Angular Gyrus	brain
15	chr15:44221600-44225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:44221800-44224200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:44221800-44224400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr15:44221800-44224600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr15:44222200-44226600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:44222200-44227000	Enhancers	Osteobl	bone
21	chr15:44222600-44225200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr15:44222800-44225200	Weak transcription	NH-A	brain
23	chr15:44222800-44225400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr15:44223000-44224800	Weak transcription	HSMM	muscle
25	chr15:44223200-44224200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:44223200-44224200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:44223200-44224400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:44223200-44224400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:44223200-44225000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:44223200-44225000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:44223200-44225000	Weak transcription	Left Ventricle	heart
32	chr15:44223200-44225000	Weak transcription	GM12878-XiMat	blood
33	chr15:44223200-44225200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:44223200-44225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:44223200-44226400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:44223400-44224600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr15:44223800-44225400	Enhancers	NHDF-Ad	bronchial
38	chr15:44223800-44225600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr15:44223800-44225600	Enhancers	Fetal Muscle Leg	muscle
40	chr15:44223800-44226400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:44224000-44224200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr15:44224000-44225000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:44224000-44225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:44224000-44226000	Enhancers	HSMMtube	muscle
45	chr15:44224000-44226400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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