Variant report

Variant	rs10518987
Chromosome Location	chr15:72565787-72565788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:72562435-72566033	A549	lung:	n/a	chr15:72563158-72563179 chr15:72563169-72563178
2	HCFC1	chr15:72564082-72565924	Hela-S3	cervix:	n/a	n/a
3	RUNX3	chr15:72564658-72566039	GM12878	blood:	n/a	chr15:72565791-72565808
4	IRF1	chr15:72564709-72565881	K562	blood:	n/a	n/a
5	SMARCC2	chr15:72564204-72566355	Hela-S3	cervix:	n/a	n/a
6	RUNX3	chr15:72564550-72565973	GM12878	blood:	n/a	chr15:72565791-72565808
7	STAT3	chr15:72565160-72565791	GM12878	blood:	n/a	n/a
8	CTCF	chr15:72565700-72565850	BJ	skin:	n/a	n/a
9	MXI1	chr15:72563877-72565868	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr15:72564307-72565834	SK-N-SH	brain:	n/a	n/a
11	ZNF263	chr15:72564072-72565831	HEK293-T-REx	kidney:	n/a	n/a
12	MAZ	chr15:72564047-72566127	IMR90	lung:	n/a	chr15:72565030-72565046 chr15:72565026-72565039 chr15:72565028-72565037 chr15:72565028-72565038 chr15:72565027-72565038 chr15:72565029-72565036 chr15:72565027-72565038 chr15:72565028-72565037
13	REST	chr15:72564893-72565877	A549	lung:	n/a	chr15:72565206-72565219 chr15:72565141-72565154

No.	Distal block	Cell Line	Cell type
1	chr15:72564706..72566745-chr15:72598121..72601390,3	K562	blood:
2	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
3	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
4	chr15:72409322..72412006-chr15:72563414..72566011,3	MCF-7	breast:
5	chr15:72548498..72554612-chr15:72558312..72566000,13	MCF-7	breast:
6	chr15:72563307..72566923-chr15:72766066..72767771,3	K562	blood:
7	chr15:72459821..72461687-chr15:72564383..72566445,2	MCF-7	breast:
8	chr15:72557492..72560161-chr15:72562709..72565959,3	K562	blood:
9	chr15:72555118..72559591-chr15:72562362..72567008,6	MCF-7	breast:
10	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
11	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
12	chr15:72564850..72566745-chr15:72598121..72600222,2	K562	blood:
13	chr15:72563307..72566923-chr15:72766066..72767771,5	K562	blood:
14	chr15:72495998..72498558-chr15:72562827..72566042,3	MCF-7	breast:
15	chr15:72537383..72539855-chr15:72564362..72566037,2	MCF-7	breast:
16	chr15:72565043..72567062-chr15:72568655..72571579,4	K562	blood:
17	chr1:28973807..28976760-chr15:72563147..72565838,2	MCF-7	breast:
18	chr15:72513653..72518363-chr15:72563063..72568184,5	MCF-7	breast:
19	chr15:72550392..72553636-chr15:72562522..72566048,4	MCF-7	breast:

Variant related genes	Relation type
PARP6	TF binding region
ENSG00000140488	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000261460	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000066933	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10220850	1.00[CEU][hapmap]
rs11632505	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12324744	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12899442	0.84[ASN][1000 genomes]
rs12904378	1.00[CEU][hapmap]
rs12904667	0.84[ASN][1000 genomes]
rs12906356	1.00[ASN][1000 genomes]
rs12906612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12907084	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12907087	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907377	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12907707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12908241	0.94[ASN][1000 genomes]
rs12908863	0.94[ASN][1000 genomes]
rs12908883	1.00[CEU][hapmap]
rs12909590	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910475	0.94[ASN][1000 genomes]
rs12911285	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914269	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914312	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs12916039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12916226	1.00[ASN][1000 genomes]
rs12916298	0.94[ASN][1000 genomes]
rs12917402	0.84[ASN][1000 genomes]
rs1426169	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288257	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2912203	0.94[ASN][1000 genomes]
rs2912204	0.94[ASN][1000 genomes]
rs2912215	0.94[ASN][1000 genomes]
rs2912221	1.00[CEU][hapmap]
rs2912222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2912223	1.00[CEU][hapmap]
rs2912224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2912225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2957751	0.88[ASN][1000 genomes]
rs2957752	0.94[ASN][1000 genomes]
rs2959916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2959917	0.94[ASN][1000 genomes]
rs2959918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2959919	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2959923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2959924	0.94[ASN][1000 genomes]
rs2959925	1.00[CEU][hapmap]
rs2959926	1.00[CEU][hapmap]
rs2959927	0.94[ASN][1000 genomes]
rs2959929	0.94[ASN][1000 genomes]
rs2959931	0.94[ASN][1000 genomes]
rs2959933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2959935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2959940	0.84[ASN][1000 genomes]
rs34023258	0.94[ASN][1000 genomes]
rs34115124	0.94[ASN][1000 genomes]
rs34211376	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34294127	0.94[ASN][1000 genomes]
rs34346715	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34362323	0.94[ASN][1000 genomes]
rs34382909	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34481625	0.94[ASN][1000 genomes]
rs34505994	0.94[ASN][1000 genomes]
rs34511502	0.94[ASN][1000 genomes]
rs34538801	0.94[ASN][1000 genomes]
rs34658339	1.00[ASN][1000 genomes]
rs34677662	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34694253	0.94[ASN][1000 genomes]
rs34705283	0.94[ASN][1000 genomes]
rs34789424	0.94[ASN][1000 genomes]
rs34815962	1.00[ASN][1000 genomes]
rs35071085	0.94[ASN][1000 genomes]
rs35104697	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35144689	0.94[ASN][1000 genomes]
rs35202897	0.94[ASN][1000 genomes]
rs35259670	0.94[ASN][1000 genomes]
rs35285520	1.00[ASN][1000 genomes]
rs35362359	0.94[ASN][1000 genomes]
rs35378070	1.00[ASN][1000 genomes]
rs35457238	0.94[ASN][1000 genomes]
rs35554838	0.94[ASN][1000 genomes]
rs35694406	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs36110969	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3743228	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3743229	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3759901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3825949	0.89[ASN][1000 genomes]
rs4776592	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4776593	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4777501	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs57420281	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57595193	0.87[AFR][1000 genomes]
rs57692836	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58352854	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60350471	0.81[AFR][1000 genomes]
rs6494994	0.81[YRI][hapmap];0.81[AFR][1000 genomes]
rs66608810	1.00[ASN][1000 genomes]
rs67195650	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71395056	0.94[ASN][1000 genomes]
rs71395057	0.94[ASN][1000 genomes]
rs71395058	0.94[ASN][1000 genomes]
rs71395061	0.94[ASN][1000 genomes]
rs71395066	1.00[ASN][1000 genomes]
rs71395068	1.00[ASN][1000 genomes]
rs71395070	1.00[ASN][1000 genomes]
rs71395074	0.94[ASN][1000 genomes]
rs71397231	0.94[ASN][1000 genomes]
rs71397232	0.94[ASN][1000 genomes]
rs71397233	0.94[ASN][1000 genomes]
rs71411063	0.94[ASN][1000 genomes]
rs7169150	1.00[ASN][1000 genomes]
rs7172504	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7174264	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73436397	0.81[AFR][1000 genomes]
rs73436400	0.81[AFR][1000 genomes]
rs73438405	0.81[AFR][1000 genomes]
rs73438414	0.81[AFR][1000 genomes]
rs73438446	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73438458	0.85[AFR][1000 genomes]
rs73438466	0.96[AFR][1000 genomes]
rs73438476	0.92[AFR][1000 genomes]
rs73438493	0.88[AFR][1000 genomes]
rs8028169	0.81[AFR][1000 genomes]
rs8033167	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs8192354	0.81[AFR][1000 genomes]
rs8192359	1.00[ASN][1000 genomes]
rs8192360	0.81[AFR][1000 genomes]
rs8192365	0.81[AFR][1000 genomes]
rs8192379	0.81[AFR][1000 genomes]
rs8192387	1.00[ASN][1000 genomes]
rs8192393	0.81[AFR][1000 genomes]
rs8192397	1.00[ASN][1000 genomes]
rs8192412	0.81[AFR][1000 genomes]
rs8192413	0.81[AFR][1000 genomes]
rs8192418	0.83[AFR][1000 genomes]
rs890312	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9672916	1.00[CEU][hapmap]
rs9806184	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9806204	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.83[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
4	nsv1601	chr15:72549885-72585176	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72564000-72565800	Active TSS	Brain Germinal Matrix	brain
2	chr15:72564200-72565800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:72564200-72565800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:72564800-72565800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:72565200-72565800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:72565200-72565800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr15:72565200-72565800	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr15:72565200-72565800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr15:72565200-72565800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:72565200-72565800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:72565200-72565800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:72565200-72565800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr15:72565200-72565800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:72565200-72565800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr15:72565200-72565800	Flanking Active TSS	Thymus	Thymus
16	chr15:72565200-72565800	Flanking Active TSS	HUVEC	blood vessel
17	chr15:72565200-72565800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr15:72565200-72566000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr15:72565200-72566000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr15:72565200-72566000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:72565200-72566000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:72565200-72566000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr15:72565200-72566000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr15:72565200-72566000	Flanking Active TSS	HMEC	breast
25	chr15:72565200-72566200	Flanking Active TSS	Dnd41	blood
26	chr15:72565400-72565800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr15:72565400-72565800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
28	chr15:72565400-72565800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:72565400-72565800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:72565400-72565800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr15:72565400-72565800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr15:72565400-72565800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:72565400-72565800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:72565400-72565800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr15:72565400-72565800	Flanking Active TSS	Liver	Liver
36	chr15:72565400-72565800	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr15:72565400-72565800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr15:72565400-72565800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr15:72565400-72565800	Flanking Active TSS	Fetal Lung	lung
40	chr15:72565400-72565800	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr15:72565400-72565800	Flanking Active TSS	Fetal Thymus	thymus
42	chr15:72565400-72565800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:72565400-72565800	Flanking Active TSS	Stomach Mucosa	stomach
44	chr15:72565400-72565800	Flanking Active TSS	A549	lung
45	chr15:72565400-72565800	Flanking Active TSS	HSMM	muscle
46	chr15:72565400-72565800	Flanking Active TSS	HSMMtube	muscle
47	chr15:72565400-72565800	Flanking Active TSS	K562	blood
48	chr15:72565400-72565800	Flanking Active TSS	NH-A	brain
49	chr15:72565400-72566000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:72565400-72566000	Flanking Active TSS	Primary T cells from cord blood	blood

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