Variant report

Variant	rs72740247
Chromosome Location	chr15:53022863-53022864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52623345..52624286-chr15:53022394..53023020,2	MCF-7	breast:
2	chr15:52942373..52946105-chr15:53022429..53026141,4	MCF-7	breast:
3	chr15:52888619..52891451-chr15:53020250..53023070,2	MCF-7	breast:
4	chr15:53020211..53022742-chr15:53022811..53024880,2	MCF-7	breast:
5	chr15:52967780..52973455-chr15:53015921..53024493,22	MCF-7	breast:
6	chr15:52968697..52973342-chr15:53018163..53028590,24	MCF-7	breast:
7	chr15:53022444..53024405-chr15:53025609..53027744,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11634814	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12148347	0.91[ASN][1000 genomes]
rs12148358	0.91[ASN][1000 genomes]
rs35756086	0.88[ASN][1000 genomes]
rs4776076	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4776077	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7177498	0.91[ASN][1000 genomes]
rs8028614	0.90[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	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv833006	chr15:52825954-53040462	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1049534	chr15:52903314-53022926	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1049055	chr15:52990467-53030603	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1035212	chr15:52995637-53030603	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1049144	chr15:52995637-53039179	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1049619	chr15:52995637-53041887	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv515534	chr15:52998262-53025692	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv569425	chr15:53001538-53038488	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv569426	chr15:53014003-53046210	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53020000-53023200	Enhancers	Hela-S3	cervix
2	chr15:53020200-53024800	Enhancers	HUVEC	blood vessel
3	chr15:53020800-53023000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:53020800-53023000	Enhancers	NHEK	skin
5	chr15:53020800-53023200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr15:53021000-53023000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:53021000-53023000	Enhancers	HSMM	muscle
8	chr15:53021000-53023000	Enhancers	NHDF-Ad	bronchial
9	chr15:53021000-53023200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr15:53021400-53026000	Weak transcription	Osteobl	bone
11	chr15:53021600-53023000	Enhancers	Primary T cells from cord blood	blood
12	chr15:53021600-53023000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:53021600-53023200	Enhancers	Primary B cells from peripheral blood	blood
14	chr15:53021600-53023200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr15:53021600-53023200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr15:53021600-53023200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:53021600-53023400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:53021800-53023000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:53021800-53023000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr15:53021800-53023000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:53021800-53023000	Enhancers	Adipose Nuclei	Adipose
22	chr15:53021800-53023200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr15:53021800-53023200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr15:53021800-53023200	Enhancers	Fetal Thymus	thymus
25	chr15:53021800-53023200	Enhancers	Psoas Muscle	Psoas
26	chr15:53021800-53023600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:53021800-53026800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr15:53022000-53023000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:53022000-53024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:53022000-53025200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:53022000-53025400	Weak transcription	Small Intestine	intestine
32	chr15:53022000-53026000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:53022200-53023200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr15:53022600-53023000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:53022600-53023000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr15:53022600-53023800	Weak transcription	HSMMtube	muscle
37	chr15:53022600-53025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr15:53022600-53025400	Weak transcription	Placenta	Placenta
39	chr15:53022600-53025600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:53022600-53025800	Weak transcription	Lung	lung
41	chr15:53022800-53023000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr15:53022800-53024000	Weak transcription	A549	lung
43	chr15:53022800-53024000	Weak transcription	HepG2	liver
44	chr15:53022800-53024200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:53022800-53025200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr15:53022800-53025200	Weak transcription	Primary B cells from cord blood	blood
47	chr15:53022800-53025400	Weak transcription	Spleen	Spleen
48	chr15:53022800-53025800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:53022800-53025800	Weak transcription	Stomach Mucosa	stomach
50	chr15:53022800-53029800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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