Variant report

Variant	rs3986209
Chromosome Location	chr15:44050873-44050874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10163069	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070411	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12443084	0.89[EUR][1000 genomes]
rs2412821	0.84[EUR][1000 genomes]
rs2729494	0.89[EUR][1000 genomes]
rs28410121	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2918947	0.82[EUR][1000 genomes]
rs2930529	0.94[EUR][1000 genomes]
rs2930530	0.94[EUR][1000 genomes]
rs2930531	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3102448	0.87[EUR][1000 genomes]
rs3110081	0.86[EUR][1000 genomes]
rs35822148	0.86[EUR][1000 genomes]
rs3844075	0.87[AFR][1000 genomes]
rs3862143	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4644832	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4923964	0.93[EUR][1000 genomes]
rs4923965	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs495880	0.88[EUR][1000 genomes]
rs514311	0.83[EUR][1000 genomes]
rs528764	0.89[EUR][1000 genomes]
rs541871	0.83[EUR][1000 genomes]
rs62018940	0.90[EUR][1000 genomes]
rs62018944	0.88[EUR][1000 genomes]
rs6493090	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs654276	0.88[EUR][1000 genomes]
rs678084	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7174260	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7178230	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	esv33661	chr15:44016519-44064420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44039600-44052000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:44039600-44055400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:44040200-44056000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:44040200-44062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:44040800-44055600	Weak transcription	Psoas Muscle	Psoas
6	chr15:44040800-44055800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:44041000-44068800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:44042000-44066600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:44042000-44066800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:44042000-44067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:44042200-44055400	Weak transcription	Aorta	Aorta
12	chr15:44042200-44067000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:44042600-44053400	Weak transcription	Fetal Brain Male	brain
14	chr15:44042600-44066600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:44043000-44066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:44043400-44055000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:44043400-44063200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:44043400-44066600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:44043400-44066600	Strong transcription	Fetal Thymus	thymus
20	chr15:44043400-44066800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:44043400-44066800	Strong transcription	Placenta	Placenta
22	chr15:44043400-44067000	Strong transcription	Osteobl	bone
23	chr15:44043400-44067200	Strong transcription	HSMM	muscle
24	chr15:44043600-44053200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr15:44043600-44063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:44043600-44063800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr15:44043600-44066600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:44043600-44066800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr15:44043800-44066800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:44044000-44052000	Strong transcription	NHEK	skin
31	chr15:44044000-44052600	Strong transcription	K562	blood
32	chr15:44044000-44056800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:44044000-44063800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:44044000-44063800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr15:44044000-44066600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:44044000-44067000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:44044400-44054400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:44044400-44065600	Strong transcription	HUVEC	blood vessel
39	chr15:44044400-44066600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:44044400-44068200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr15:44044600-44065600	Strong transcription	Brain Anterior Caudate	brain
42	chr15:44044600-44066400	Strong transcription	Adipose Nuclei	Adipose
43	chr15:44044600-44067000	Strong transcription	Fetal Intestine Large	intestine
44	chr15:44044800-44052400	Strong transcription	Brain Germinal Matrix	brain
45	chr15:44044800-44055800	Strong transcription	HepG2	liver
46	chr15:44044800-44063800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr15:44044800-44065600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:44044800-44065600	Strong transcription	Dnd41	blood
49	chr15:44044800-44066600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:44045000-44054000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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