Variant report

Variant	rs72724985
Chromosome Location	chr15:31778241-31778242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31748477..31753108-chr15:31776889..31783172,7	MCF-7	breast:
2	chr15:31728928..31731704-chr15:31776995..31778781,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16956797	0.83[AMR][1000 genomes]
rs56249651	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57924788	0.83[EUR][1000 genomes]
rs67216354	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67699697	0.86[EUR][1000 genomes]
rs72724958	0.85[EUR][1000 genomes]
rs72724993	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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 target site	46 gene(s)	inside rSNPs	diseases
4	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1051589	chr15:31728004-31972706	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv542320	chr15:31728004-31972706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv469633	chr15:31731003-31904613	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv482330	chr15:31731003-31904613	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv903844	chr15:31736091-31781988	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1046271	chr15:31741255-31795961	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv903845	chr15:31751664-31939001	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1824097	chr15:31772875-31778703	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv827281	chr15:31773227-31779565	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv827282	chr15:31773680-31778948	Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1811144	chr15:31775602-31791836	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv568824	chr15:31776343-31787108	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72724985	RP11-932O9.7	cis	Artery Tibial	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31765600-31779200	Weak transcription	Brain Angular Gyrus	brain
2	chr15:31775400-31780400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:31775800-31779000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:31775800-31779600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:31776000-31780000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:31776000-31780000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:31776000-31780200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:31776000-31780600	Weak transcription	Left Ventricle	heart
9	chr15:31776200-31780600	Weak transcription	Right Atrium	heart
10	chr15:31776400-31778800	Strong transcription	Brain Hippocampus Middle	brain
11	chr15:31776600-31780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:31776800-31779600	Weak transcription	Pancreas	Pancrea
13	chr15:31776800-31779800	Weak transcription	Gastric	stomach
14	chr15:31776800-31780000	Weak transcription	Colonic Mucosa	Colon
15	chr15:31776800-31780600	Weak transcription	Brain Anterior Caudate	brain
16	chr15:31777000-31780400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:31777000-31780600	Weak transcription	Brain Substantia Nigra	brain
18	chr15:31777000-31780600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:31777200-31778400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:31777200-31778800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr15:31777200-31780000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr15:31777200-31780000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:31777200-31780000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:31777200-31780000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:31777200-31780200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr15:31777200-31780200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:31777200-31780400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:31777200-31780400	Weak transcription	Lung	lung
29	chr15:31777400-31780000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:31777400-31780200	Weak transcription	Primary T cells from cord blood	blood
31	chr15:31777600-31779800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:31777600-31780000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr15:31777600-31780200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:31777800-31778600	Enhancers	Spleen	Spleen
35	chr15:31777800-31778800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr15:31777800-31778800	Enhancers	Fetal Heart	heart
37	chr15:31777800-31781800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:31777800-31782400	Enhancers	Esophagus	oesophagus
39	chr15:31778000-31779400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:31778000-31782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:31778000-31782400	Enhancers	Fetal Thymus	thymus
42	chr15:31778200-31778600	Enhancers	NHEK	skin
43	chr15:31778200-31779400	Enhancers	Fetal Brain Male	brain
44	chr15:31778200-31779600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:31778200-31780600	Weak transcription	Right Ventricle	heart
46	chr15:31778200-31780600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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