Variant report

Variant	rs2278694
Chromosome Location	chr15:72859770-72859771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72764608..72767510-chr15:72858916..72862461,3	K562	blood:

Variant related genes	Relation type
ENSG00000166233	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10438370	0.82[AMR][1000 genomes]
rs10518988	0.88[YRI][hapmap]
rs10744963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10851858	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072365	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072376	0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11072379	0.82[AMR][1000 genomes]
rs1133316	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1160608	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631125	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11637103	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855682	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12439018	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441929	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12900846	0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12901966	0.82[AMR][1000 genomes]
rs12908610	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12910393	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12913503	0.80[AMR][1000 genomes]
rs1374092	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1562250	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2415135	0.93[ASW][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2415139	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415141	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842946	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4146285	0.85[AMR][1000 genomes]
rs4146286	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4776601	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4776602	0.82[AMR][1000 genomes]
rs4776603	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4777512	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4777514	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4777517	0.87[ASW][hapmap];0.88[YRI][hapmap]
rs4777520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6495011	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7174287	0.80[ASN][1000 genomes]
rs7177472	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7496556	0.87[ASW][hapmap];0.83[MKK][hapmap];0.82[AMR][1000 genomes]
rs8025088	0.94[YRI][hapmap]
rs8026681	0.87[ASW][hapmap];0.88[YRI][hapmap]
rs8030499	0.87[ASW][hapmap]
rs8037282	0.87[ASW][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs8038734	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8038934	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1054626	chr15:72811402-72867502	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv521972	chr15:72859770-72878772	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72828600-72869800	Weak transcription	Aorta	Aorta
2	chr15:72829200-72880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72830400-72866800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:72830800-72867400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr15:72833600-72865000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:72833600-72867000	Weak transcription	Right Ventricle	heart
7	chr15:72833600-72870200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:72833600-72870400	Weak transcription	Gastric	stomach
9	chr15:72835200-72876000	Weak transcription	Pancreas	Pancrea
10	chr15:72835600-72870400	Weak transcription	Spleen	Spleen
11	chr15:72836600-72870000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:72838600-72862400	Weak transcription	Fetal Heart	heart
13	chr15:72838800-72870400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:72839400-72866600	Weak transcription	Lung	lung
15	chr15:72841000-72909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:72844400-72870000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:72844600-72870400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr15:72846600-72865400	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr15:72846600-72868600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:72846600-72878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:72846800-72870200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:72847000-72878400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr15:72847200-72867400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:72847200-72870000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:72847600-72860800	Strong transcription	Dnd41	blood
26	chr15:72847800-72878000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr15:72847800-72878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr15:72848800-72863800	Weak transcription	Brain Anterior Caudate	brain
29	chr15:72848800-72867800	Weak transcription	Colonic Mucosa	Colon
30	chr15:72849000-72870200	Weak transcription	Fetal Brain Male	brain
31	chr15:72850200-72880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:72851200-72867400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:72851400-72877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:72851800-72867800	Strong transcription	HepG2	liver
35	chr15:72851800-72868600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:72852000-72878800	Strong transcription	Placenta	Placenta
37	chr15:72852600-72860000	Strong transcription	Osteobl	bone
38	chr15:72852600-72870800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:72852800-72861000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:72852800-72868600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr15:72852800-72878400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:72853000-72872600	Weak transcription	Stomach Mucosa	stomach
43	chr15:72853200-72859800	Strong transcription	NHDF-Ad	bronchial
44	chr15:72853200-72867400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:72853600-72879800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:72853800-72868600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:72854000-72860200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:72854200-72870600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:72854400-72860400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:72854400-72860600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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