Variant report

Variant	rs2706465
Chromosome Location	chr15:44486239-44486240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12908345	0.96[EUR][1000 genomes]
rs1365457	0.92[EUR][1000 genomes]
rs2447333	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2447334	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2463448	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2464692	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615254	0.96[EUR][1000 genomes]
rs2615277	0.88[AFR][1000 genomes]
rs2615299	0.92[AFR][1000 genomes]
rs2615300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2615303	0.93[AFR][1000 genomes]
rs2696072	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696073	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696074	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2696075	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2696077	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2696078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2696099	0.96[EUR][1000 genomes]
rs2706461	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706477	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706478	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2706484	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2733210	0.92[EUR][1000 genomes]
rs2733234	0.90[AFR][1000 genomes]
rs28673086	0.96[EUR][1000 genomes]
rs7174819	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3420951	chr15:44486085-44488633	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44484200-44486600	Flanking Active TSS	HUVEC	blood vessel
2	chr15:44484200-44487800	Active TSS	Brain Anterior Caudate	brain
3	chr15:44484200-44488000	Active TSS	Brain Hippocampus Middle	brain
4	chr15:44484200-44488000	Active TSS	Brain Substantia Nigra	brain
5	chr15:44484200-44488200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr15:44484200-44488200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:44484400-44487800	Active TSS	Brain Angular Gyrus	brain
8	chr15:44484400-44487800	Active TSS	Brain Cingulate Gyrus	brain
9	chr15:44484600-44487600	Active TSS	HMEC	breast
10	chr15:44484600-44488200	Active TSS	Fetal Brain Female	brain
11	chr15:44484600-44488200	Active TSS	NH-A	brain
12	chr15:44484800-44486800	Active TSS	Fetal Brain Male	brain
13	chr15:44485200-44486800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:44485400-44487000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr15:44485600-44486600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:44485600-44486600	Bivalent/Poised TSS	NHDF-Ad	bronchial
17	chr15:44485600-44487200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:44485600-44488000	Active TSS	Right Atrium	heart
19	chr15:44485600-44488200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr15:44485800-44486400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr15:44485800-44486400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:44485800-44486400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:44485800-44486400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
24	chr15:44485800-44486400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr15:44485800-44486400	Flanking Active TSS	NHLF	lung
26	chr15:44485800-44486600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:44485800-44486600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
28	chr15:44485800-44486600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:44485800-44486600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr15:44485800-44486600	Bivalent/Poised TSS	Fetal Heart	heart
31	chr15:44485800-44486800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:44485800-44486800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:44485800-44486800	Enhancers	Pancreas	Pancrea
34	chr15:44485800-44486800	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
35	chr15:44485800-44487000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:44485800-44487000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:44485800-44487000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr15:44485800-44487200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:44485800-44487400	Bivalent Enhancer	Placenta	Placenta
40	chr15:44485800-44487800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:44485800-44487800	Active TSS	HSMM	muscle
42	chr15:44485800-44488000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:44485800-44488000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:44485800-44488000	Active TSS	Aorta	Aorta
45	chr15:44485800-44488000	Active TSS	Right Ventricle	heart
46	chr15:44485800-44488000	Active TSS	HSMMtube	muscle
47	chr15:44485800-44488200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr15:44486000-44486400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:44486000-44486400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:44486000-44486400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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