Variant report

Variant	rs4779681
Chromosome Location	chr15:30227125-30227126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1001877	0.95[CHB][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12592270	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12594438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12594461	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1357386	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs1357387	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs1357388	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs1357389	1.00[ASN][1000 genomes]
rs1403355	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522643	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1522791	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1522792	0.95[CHB][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1522794	0.84[ASN][1000 genomes]
rs1533860	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1631472	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs1632356	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs1718985	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1718986	0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1718987	0.91[CEU][hapmap];0.94[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1718988	0.91[CEU][hapmap];0.94[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1718989	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1718990	0.95[CHB][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1718991	0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1718993	0.83[ASN][1000 genomes]
rs1718998	0.83[ASN][1000 genomes]
rs1718999	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719001	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1719337	0.83[ASN][1000 genomes]
rs1719338	0.84[CEU][hapmap];0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs1719341	0.84[CEU][hapmap];0.94[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1719343	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs1719345	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1719348	0.95[CHB][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1719349	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1719350	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1719351	0.90[CEU][hapmap];0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs1719352	0.83[ASN][1000 genomes]
rs1719353	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719354	0.83[ASN][1000 genomes]
rs1719358	0.84[ASN][1000 genomes]
rs1719359	0.94[CHB][hapmap];0.84[ASN][1000 genomes]
rs1719360	0.84[ASN][1000 genomes]
rs1719361	0.95[CHB][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1719363	0.84[EUR][1000 genomes]
rs17672247	0.81[JPT][hapmap]
rs1879895	0.95[CHB][hapmap]
rs2103056	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs2253906	0.84[ASN][1000 genomes]
rs2461657	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2948555	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34866689	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779461	0.90[CHB][hapmap];0.95[MKK][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4779672	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4779673	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4779674	0.90[CHB][hapmap];0.83[GIH][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4779675	0.95[CHB][hapmap];0.91[GIH][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4779676	0.93[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4779677	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72625154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs939976	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs939977	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs939978	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs939979	0.84[CEU][hapmap];0.94[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
6	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
10	nsv521157	chr15:30220424-30229213	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv903756	chr15:30220424-30281105	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1054008	chr15:30220707-30351687	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv542294	chr15:30220707-30351687	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30217400-30229200	Weak transcription	Gastric	stomach
2	chr15:30218200-30227600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:30218200-30236200	Weak transcription	Aorta	Aorta
4	chr15:30218600-30227200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:30225400-30227200	Flanking Active TSS	A549	lung
6	chr15:30225400-30229200	Enhancers	Brain Cingulate Gyrus	brain
7	chr15:30225400-30230000	Enhancers	NHEK	skin
8	chr15:30225400-30231800	Enhancers	HMEC	breast
9	chr15:30225400-30232000	Enhancers	Hela-S3	cervix
10	chr15:30225600-30228000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:30225600-30230400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:30225600-30231000	Weak transcription	Esophagus	oesophagus
13	chr15:30225600-30231800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:30225800-30227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:30225800-30228200	Enhancers	HUVEC	blood vessel
16	chr15:30225800-30229200	Enhancers	NHLF	lung
17	chr15:30225800-30232000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:30226000-30227400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:30226000-30227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:30226000-30227800	Enhancers	HSMM	muscle
21	chr15:30226000-30228000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr15:30226200-30227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:30226200-30227200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:30226200-30227600	Enhancers	Osteobl	bone
25	chr15:30226200-30227800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:30226200-30228000	Enhancers	NH-A	brain
27	chr15:30226200-30235600	Enhancers	Brain Substantia Nigra	brain
28	chr15:30226400-30227200	Enhancers	NHDF-Ad	bronchial
29	chr15:30226400-30227400	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:30226400-30227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:30226400-30227600	Weak transcription	Brain Angular Gyrus	brain
32	chr15:30226400-30227800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:30226600-30228000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr15:30226600-30230000	Enhancers	Brain Anterior Caudate	brain
35	chr15:30226800-30227600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:30226800-30227800	Weak transcription	Placenta	Placenta
37	chr15:30227000-30227400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr15:30227000-30231800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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