Variant report

Variant	rs4779672
Chromosome Location	chr15:30205735-30205736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1001877	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12592270	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12594438	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594461	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1357386	0.85[ASN][1000 genomes]
rs1357387	0.85[ASN][1000 genomes]
rs1357388	0.85[ASN][1000 genomes]
rs1403355	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1464564	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464565	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522640	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1522643	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1522791	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522792	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1522794	0.85[ASN][1000 genomes]
rs1533860	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1631472	0.85[ASN][1000 genomes]
rs1632356	0.85[ASN][1000 genomes]
rs1718977	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1718985	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718986	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718987	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718988	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718989	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718990	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718991	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1718993	0.85[ASN][1000 genomes]
rs1718997	0.80[ASN][1000 genomes]
rs1718998	0.84[ASN][1000 genomes]
rs1718999	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719001	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1719040	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719041	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1719337	0.85[ASN][1000 genomes]
rs1719338	0.85[ASN][1000 genomes]
rs1719341	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719343	0.85[ASN][1000 genomes]
rs1719345	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719348	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719349	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719350	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719351	0.84[ASN][1000 genomes]
rs1719352	0.84[ASN][1000 genomes]
rs1719353	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719354	0.85[ASN][1000 genomes]
rs1719358	0.85[ASN][1000 genomes]
rs1719359	0.85[ASN][1000 genomes]
rs1719360	0.85[ASN][1000 genomes]
rs1719361	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719363	0.90[EUR][1000 genomes]
rs2103056	0.85[ASN][1000 genomes]
rs2253906	0.85[ASN][1000 genomes]
rs2461657	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2948555	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34866689	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4503741	0.96[ASN][1000 genomes]
rs4779461	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779673	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779674	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4779675	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779676	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4779677	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4779681	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72625154	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs939976	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs939977	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs939978	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs939979	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30190000-30206600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:30193400-30209800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:30202200-30206600	Weak transcription	Right Ventricle	heart
4	chr15:30203600-30206400	Weak transcription	Right Atrium	heart
5	chr15:30204000-30206600	Enhancers	Brain Hippocampus Middle	brain
6	chr15:30204200-30206600	Enhancers	Brain Substantia Nigra	brain
7	chr15:30204200-30207200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:30204200-30207400	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr15:30204200-30207800	Enhancers	Brain Angular Gyrus	brain
10	chr15:30204400-30206600	Weak transcription	Left Ventricle	heart
11	chr15:30204600-30206800	Enhancers	Brain Anterior Caudate	brain
12	chr15:30204600-30207200	Enhancers	NH-A	brain
13	chr15:30204600-30207400	Enhancers	Brain Cingulate Gyrus	brain
14	chr15:30205000-30207000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:30205000-30207200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:30205000-30207400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:30205000-30207600	Enhancers	Fetal Heart	heart
18	chr15:30205200-30206000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr15:30205200-30206200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:30205200-30206400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr15:30205200-30206800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:30205200-30206800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:30205200-30207000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:30205200-30207000	Enhancers	Colon Smooth Muscle	Colon
25	chr15:30205200-30207000	Enhancers	NHDF-Ad	bronchial
26	chr15:30205200-30207200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:30205200-30207200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr15:30205400-30206800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr15:30205600-30205800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr15:30205600-30206200	Enhancers	NHLF	lung
31	chr15:30205600-30206600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:30205600-30206600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:30205600-30206600	Enhancers	HSMMtube	muscle
34	chr15:30205600-30206800	Enhancers	HSMM	muscle
35	chr15:30205600-30206800	Enhancers	Osteobl	bone
36	chr15:30205600-30207400	Enhancers	Fetal Lung	lung
37	chr15:30205600-30207400	Enhancers	Rectal Smooth Muscle	rectum
38	chr15:30205600-30209800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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