Variant report

Variant	rs2469565
Chromosome Location	chr15:76487030-76487031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76482420..76485297-chr15:76485451..76488299,2	K562	blood:
2	chr15:76484853..76487491-chr15:76488798..76492049,5	K562	blood:
3	chr15:76486525..76491130-chr15:76491292..76495169,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169758	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11072576	0.93[CHB][hapmap];0.80[ASN][1000 genomes]
rs11072579	0.89[CHB][hapmap]
rs11072580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072583	0.88[CHB][hapmap]
rs11072585	0.88[CHB][hapmap]
rs11072587	0.89[CHB][hapmap]
rs11633749	0.81[ASN][1000 genomes]
rs11634060	0.89[CHB][hapmap]
rs11636851	0.89[CHB][hapmap]
rs12050896	0.88[CHB][hapmap]
rs12438741	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12439484	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs12442266	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12592501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12595717	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12595738	0.96[CEU][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12898415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12901160	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12902506	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12907668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12908334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12909718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910640	0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs12911035	0.85[EUR][1000 genomes]
rs12913096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12916022	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16968083	0.89[CHB][hapmap]
rs17361504	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs17362383	0.82[CEU][hapmap]
rs17460201	0.82[CEU][hapmap]
rs1850722	0.88[CHB][hapmap]
rs1875888	0.81[CHB][hapmap]
rs2007928	0.80[ASN][1000 genomes]
rs2139190	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2176623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2456045	1.00[CEU][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2456046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2456049	0.81[ASN][1000 genomes]
rs2456050	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs2460154	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2469541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2469542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469548	0.88[CHB][hapmap]
rs2469566	0.95[CEU][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959850	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2959853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34213321	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34893715	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35707798	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3759853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3784449	0.88[CHB][hapmap]
rs3866543	0.86[CEU][hapmap];0.88[JPT][hapmap]
rs3898352	0.89[CHB][hapmap]
rs4381566	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4886484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4886485	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4886488	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs4886777	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs4886779	0.82[CHB][hapmap]
rs4886783	0.88[CHB][hapmap]
rs4886787	0.88[CHB][hapmap]
rs4886788	0.88[CHB][hapmap]
rs4886789	0.88[CHB][hapmap]
rs4886791	0.88[CHB][hapmap]
rs60371615	0.80[ASN][1000 genomes]
rs7163036	0.83[JPT][hapmap]
rs7174889	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7177923	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs7180462	0.88[CHB][hapmap]
rs8028504	0.88[CHB][hapmap]
rs8029637	0.88[CHB][hapmap]
rs8030454	0.89[CHB][hapmap]
rs8033494	0.88[CHB][hapmap]
rs8039063	0.82[CHB][hapmap]
rs869452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs870295	0.88[CHB][hapmap]
rs879625	0.89[CHB][hapmap]
rs883993	0.88[CHB][hapmap]
rs937732	0.94[CHB][hapmap]
rs937733	0.89[CHB][hapmap]
rs959991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1048760	chr15:76334544-76496977	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv833057	chr15:76367848-76585868	ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1036319	chr15:76432823-76489955	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv1042750	chr15:76435640-76490547	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv1046099	chr15:76444695-76490547	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv1049916	chr15:76454194-76490547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1054713	chr15:76460462-76505906	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76478200-76488400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:76478600-76487800	Weak transcription	Right Atrium	heart
3	chr15:76479800-76487400	Weak transcription	Psoas Muscle	Psoas
4	chr15:76483200-76488000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:76483200-76488200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:76483200-76488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:76483600-76488200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:76483600-76488400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:76483600-76488400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:76483600-76488400	Weak transcription	Brain Angular Gyrus	brain
11	chr15:76483600-76488400	Weak transcription	Brain Substantia Nigra	brain
12	chr15:76483600-76488400	Weak transcription	Fetal Heart	heart
13	chr15:76483600-76488400	Weak transcription	HSMM	muscle
14	chr15:76483600-76488600	Weak transcription	K562	blood
15	chr15:76483600-76493400	Enhancers	Stomach Mucosa	stomach
16	chr15:76483800-76487800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr15:76483800-76488000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:76483800-76488400	Weak transcription	Brain Anterior Caudate	brain
19	chr15:76483800-76488400	Weak transcription	HMEC	breast
20	chr15:76483800-76488400	Weak transcription	NHDF-Ad	bronchial
21	chr15:76483800-76491800	Weak transcription	Liver	Liver
22	chr15:76484000-76488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:76484000-76488400	Weak transcription	Ovary	ovary
24	chr15:76484000-76498600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr15:76484000-76500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:76484200-76488400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr15:76484200-76488600	Weak transcription	Primary B cells from cord blood	blood
28	chr15:76484200-76488600	Weak transcription	Pancreas	Pancrea
29	chr15:76484200-76498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:76484400-76488400	Weak transcription	Right Ventricle	heart
31	chr15:76484600-76489200	Weak transcription	GM12878-XiMat	blood
32	chr15:76484800-76488600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:76485400-76498400	Weak transcription	Fetal Brain Female	brain
34	chr15:76485600-76488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:76486000-76487800	Enhancers	HepG2	liver
36	chr15:76486000-76492000	Enhancers	Esophagus	oesophagus
37	chr15:76486200-76487200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:76486200-76487200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr15:76486200-76487400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:76486400-76489200	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr15:76486600-76487600	Enhancers	Gastric	stomach
42	chr15:76486600-76487800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:76486800-76487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:76486800-76488200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:76486800-76488200	Weak transcription	A549	lung
46	chr15:76486800-76488400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:76486800-76488600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr15:76486800-76491800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr15:76486800-76503000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:76486800-76516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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