Variant report

Variant	rs199913693
Chromosome Location	chr20:25370219-25370220
allele	C/G
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
ENSG00000100994	Chromatin interaction
ENSG00000101003	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	chr20:25363200-25370400	Weak transcription	Aorta	Aorta
2	chr20:25369400-25370400	Flanking Active TSS	Dnd41	blood
3	chr20:25369800-25370400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr20:25369800-25370400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr20:25369800-25370400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr20:25369800-25370400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr20:25369800-25370400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:25369800-25370400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr20:25369800-25370400	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr20:25369800-25370400	Flanking Active TSS	A549	lung
11	chr20:25369800-25370400	Flanking Active TSS	GM12878-XiMat	blood
12	chr20:25369800-25370400	Flanking Active TSS	HMEC	breast
13	chr20:25369800-25370400	Flanking Active TSS	Osteobl	bone
14	chr20:25369800-25370800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr20:25369800-25372000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr20:25369800-25372400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr20:25369800-25372400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr20:25369800-25372400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:25369800-25372400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr20:25369800-25372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:25369800-25372400	Active TSS	Fetal Brain Female	brain
22	chr20:25369800-25372400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr20:25369800-25372400	Active TSS	Placenta	Placenta
24	chr20:25369800-25372400	Active TSS	NHDF-Ad	bronchial
25	chr20:25369800-25372400	Active TSS	NHLF	lung
26	chr20:25369800-25372800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr20:25370000-25370400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:25370000-25370400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
29	chr20:25370000-25370400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:25370000-25370400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:25370000-25370400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr20:25370000-25370400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr20:25370000-25370400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr20:25370000-25370400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr20:25370000-25370400	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr20:25370000-25370400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr20:25370000-25370400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr20:25370000-25370400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr20:25370000-25370400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr20:25370000-25370400	Flanking Active TSS	Fetal Brain Male	brain
41	chr20:25370000-25370400	Flanking Active TSS	Fetal Heart	heart
42	chr20:25370000-25370400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
43	chr20:25370000-25370400	Flanking Active TSS	Fetal Stomach	stomach
44	chr20:25370000-25370400	Flanking Active TSS	Pancreas	Pancrea
45	chr20:25370000-25370400	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr20:25370000-25370400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr20:25370000-25370400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr20:25370000-25370400	Enhancers	Small Intestine	intestine
49	chr20:25370000-25370400	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr20:25370000-25370400	Enhancers	Spleen	Spleen

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