Variant report

Variant	rs45553932
Chromosome Location	chr15:30038398-30038399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:30038243..30040295-chr15:30113085..30115375,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259523	Chromatin interaction
ENSG00000104067	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10519665	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11855551	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17570926	0.90[EUR][1000 genomes]
rs17671556	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17671580	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291166	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784356	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451205	0.90[EUR][1000 genomes]
rs45452501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45459202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45526331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45575035	0.83[AFR][1000 genomes]
rs45590341	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45614640	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719072	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72719077	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832944	chr15:29861062-30082057	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30052000	Weak transcription	Spleen	Spleen
2	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
3	chr15:30017600-30041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:30017600-30048600	Weak transcription	Fetal Brain Male	brain
5	chr15:30018200-30052000	Weak transcription	Gastric	stomach
6	chr15:30021200-30061600	Weak transcription	Colonic Mucosa	Colon
7	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
8	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
9	chr15:30025800-30043200	Weak transcription	NHLF	lung
10	chr15:30026000-30051800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:30026000-30057600	Weak transcription	Esophagus	oesophagus
12	chr15:30028200-30047600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:30028200-30049200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:30029200-30041800	Weak transcription	Right Ventricle	heart
15	chr15:30029600-30041600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:30029600-30048600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:30029800-30056000	Weak transcription	K562	blood
18	chr15:30030400-30060800	Weak transcription	Hela-S3	cervix
19	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:30031600-30040400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:30031600-30041600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:30031600-30041600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:30031600-30046200	Weak transcription	Fetal Kidney	kidney
24	chr15:30031800-30041600	Weak transcription	HepG2	liver
25	chr15:30032800-30046400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:30033200-30041600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:30033200-30046600	Weak transcription	NH-A	brain
28	chr15:30033200-30051800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:30033400-30041600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:30033600-30049000	Weak transcription	HUVEC	blood vessel
31	chr15:30034200-30040000	Weak transcription	Brain Substantia Nigra	brain
32	chr15:30034200-30040000	Weak transcription	A549	lung
33	chr15:30034200-30051400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr15:30034400-30041000	Weak transcription	Ovary	ovary
35	chr15:30034400-30041400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:30034400-30041600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:30034400-30041600	Weak transcription	Lung	lung
38	chr15:30034400-30041600	Weak transcription	Pancreas	Pancrea
39	chr15:30034400-30048400	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:30034400-30051800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:30034400-30051800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:30034400-30057800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:30034600-30041400	Weak transcription	Fetal Stomach	stomach
44	chr15:30034800-30040800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:30034800-30041200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr15:30034800-30041400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:30034800-30041400	Weak transcription	Fetal Lung	lung
48	chr15:30034800-30041400	Weak transcription	HMEC	breast
49	chr15:30034800-30041800	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:30034800-30046400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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