Variant report

Variant	rs112387232
Chromosome Location	chr20:25370499-25370500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25360614..25362965-chr20:25368758..25370561,4	K562	blood:
2	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
3	chr20:25316023..25323524-chr20:25367529..25373124,12	MCF-7	breast:
4	chr20:25347572..25351720-chr20:25369390..25373253,5	MCF-7	breast:
5	chr20:25290481..25292963-chr20:25369877..25371974,2	MCF-7	breast:
6	chr20:25274373..25276866-chr20:25369511..25371754,2	K562	blood:
7	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227379	Chromatin interaction
ENSG00000100997	Chromatin interaction
ENSG00000101003	Chromatin interaction
ENSG00000100994	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS 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	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv1061058	chr20:25327960-25388841	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
17	nsv964440	chr20:25351740-25387631	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv1061398	chr20:25370106-25444076	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25369800-25370800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
2	chr20:25369800-25372000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr20:25369800-25372400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:25369800-25372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:25369800-25372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:25369800-25372400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr20:25369800-25372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:25369800-25372400	Active TSS	Fetal Brain Female	brain
9	chr20:25369800-25372400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr20:25369800-25372400	Active TSS	Placenta	Placenta
11	chr20:25369800-25372400	Active TSS	NHDF-Ad	bronchial
12	chr20:25369800-25372400	Active TSS	NHLF	lung
13	chr20:25369800-25372800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr20:25370000-25370600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr20:25370000-25370600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr20:25370000-25370600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr20:25370000-25370600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr20:25370000-25370600	Flanking Active TSS	Liver	Liver
19	chr20:25370000-25370600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr20:25370000-25370600	Flanking Active TSS	Stomach Mucosa	stomach
21	chr20:25370000-25370800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr20:25370000-25370800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr20:25370000-25371000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr20:25370000-25371000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr20:25370000-25371000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr20:25370000-25371000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:25370000-25371000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr20:25370000-25371200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr20:25370000-25372000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:25370000-25372000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:25370000-25372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr20:25370000-25372000	Active TSS	Brain Cingulate Gyrus	brain
33	chr20:25370000-25372000	Active TSS	Esophagus	oesophagus
34	chr20:25370000-25372200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:25370000-25372400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr20:25370000-25372400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr20:25370000-25372400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:25370000-25372400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr20:25370000-25372400	Active TSS	Brain Germinal Matrix	brain
40	chr20:25370200-25370600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr20:25370200-25370600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr20:25370200-25370600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr20:25370200-25370600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr20:25370200-25370600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr20:25370200-25370600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:25370200-25370600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr20:25370200-25370600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:25370200-25370600	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr20:25370200-25370600	Flanking Active TSS	Thymus	Thymus
50	chr20:25370200-25370800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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