Variant report

Variant	rs56398519
Chromosome Location	chr15:50773432-50773433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50771326..50773458-chr15:50783809..50786359,2	MCF-7	breast:
2	chr15:50747304..50750243-chr15:50771020..50773761,2	K562	blood:

Variant related genes	Relation type
ENSG00000138592	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11070776	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2289108	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28582911	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3098169	0.80[AMR][1000 genomes]
rs3098171	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3098174	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3098177	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3098179	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3098205	0.81[AMR][1000 genomes]
rs3131559	0.87[EUR][1000 genomes]
rs3131560	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3131562	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3131566	0.82[AMR][1000 genomes]
rs3131568	0.80[AMR][1000 genomes]
rs3131574	0.80[AMR][1000 genomes]
rs4318151	0.82[EUR][1000 genomes]
rs7174015	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8026653	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
10	nsv1049576	chr15:50744781-50843495	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
12	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
14	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
16	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
17	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
2	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:50734000-50776400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
5	chr15:50738200-50796800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:50740200-50777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:50741800-50797000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr15:50744000-50782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr15:50744000-50789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:50745600-50773800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:50746200-50794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr15:50748400-50782400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:50748400-50785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:50750000-50794400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:50750400-50777000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:50750800-50775200	Strong transcription	Fetal Intestine Large	intestine
17	chr15:50751000-50779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:50751000-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:50751000-50796600	Strong transcription	Fetal Thymus	thymus
20	chr15:50751200-50779000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:50751400-50775600	Strong transcription	Primary B cells from peripheral blood	blood
22	chr15:50753600-50783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:50754000-50776200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:50754400-50797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:50756000-50785200	Weak transcription	Small Intestine	intestine
26	chr15:50756400-50775600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:50756600-50785000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:50756600-50795800	Strong transcription	Adipose Nuclei	Adipose
29	chr15:50757000-50778400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:50757000-50796600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:50757000-50796800	Strong transcription	Liver	Liver
32	chr15:50758800-50774400	Strong transcription	Fetal Muscle Leg	muscle
33	chr15:50759400-50783000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:50760800-50778400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:50761200-50776600	Weak transcription	Fetal Heart	heart
36	chr15:50761800-50774400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr15:50761800-50794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:50762000-50775000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:50762200-50778600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:50762200-50778800	Strong transcription	Placenta	Placenta
41	chr15:50762400-50794000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:50763000-50795800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr15:50763600-50796200	Strong transcription	Primary T cells from cord blood	blood
44	chr15:50764000-50774200	Weak transcription	Fetal Kidney	kidney
45	chr15:50764800-50775000	Weak transcription	Psoas Muscle	Psoas
46	chr15:50764800-50780600	Weak transcription	Pancreas	Pancrea
47	chr15:50764800-50785200	Weak transcription	Esophagus	oesophagus
48	chr15:50764800-50787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:50765200-50782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:50766600-50783000	Weak transcription	Right Ventricle	heart

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