Variant report

Variant	rs150766783
Chromosome Location	chr20:25389314-25389315
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:25387776-25389318	HepG2	liver:	n/a	n/a
2	EP300	chr20:25388991-25389319	K562	blood:	n/a	n/a
3	POLR2A	chr20:25389215-25389353	ProgFib	skin:	n/a	n/a
4	CHD1	chr20:25387971-25389454	H1-hESC	embryonic stem cell:	n/a	chr20:25388585-25388595
5	ZNF263	chr20:25389200-25389811	HEK293-T-REx	kidney:	n/a	n/a
6	POLR2A	chr20:25389308-25390055	GM12892	blood:	n/a	n/a
7	IRF1	chr20:25387676-25389318	K562	blood:	n/a	chr20:25387960-25387972 chr20:25387961-25387972 chr20:25387960-25387977 chr20:25387750-25387767 chr20:25388602-25388619 chr20:25388678-25388688 chr20:25387959-25387972 chr20:25387961-25387971 chr20:25388679-25388690 chr20:25387959-25387972 chr20:25388677-25388694 chr20:25388583-25388597 chr20:25387959-25387973 chr20:25387960-25387972 chr20:25387958-25387972 chr20:25388674-25388688
8	TEAD4	chr20:25389178-25389383	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25388660..25391384-chr20:25394035..25397022,4	MCF-7	breast:
2	chr20:25369196..25373772-chr20:25386901..25390344,6	MCF-7	breast:
3	chr20:25289881..25292169-chr20:25388744..25391503,2	MCF-7	breast:
4	chr20:24972013..24974485-chr20:25388171..25390084,2	MCF-7	breast:
5	chr20:25388650..25390177-chr20:25402470..25404637,3	MCF-7	breast:
6	chr20:25370156..25372734-chr20:25387934..25390472,3	MCF-7	breast:

Variant related genes	Relation type
GINS1	TF binding region
ENSG00000101474	Chromatin interaction
ENSG00000101003	Chromatin interaction
ENSG00000100997	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
17	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
18	nsv1059494	chr20:25377602-25441835	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
19	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
20	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25387600-25389400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:25387800-25389400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr20:25387800-25389400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr20:25387800-25389400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr20:25387800-25389400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr20:25387800-25389400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr20:25387800-25389400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr20:25387800-25389400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr20:25387800-25389400	Active TSS	K562	blood
10	chr20:25387800-25389400	Active TSS	NHDF-Ad	bronchial
11	chr20:25387800-25389600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:25387800-25389600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:25387800-25389600	Active TSS	Fetal Kidney	kidney
14	chr20:25387800-25389600	Active TSS	Hela-S3	cervix
15	chr20:25387800-25389800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr20:25387800-25390000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:25388000-25389400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:25388000-25389400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr20:25388000-25389400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr20:25388000-25389400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr20:25388000-25389600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr20:25388000-25389600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr20:25388200-25389400	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr20:25388600-25389400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr20:25388600-25389400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr20:25388600-25389400	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr20:25388600-25389600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr20:25388600-25389800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr20:25388600-25389800	Enhancers	Spleen	Spleen
30	chr20:25388600-25390400	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr20:25388800-25389400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr20:25388800-25389400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr20:25388800-25389400	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr20:25388800-25389400	Flanking Active TSS	Fetal Brain Female	brain
35	chr20:25388800-25389400	Flanking Active TSS	Fetal Stomach	stomach
36	chr20:25388800-25389400	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr20:25388800-25389600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr20:25388800-25389600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:25388800-25389600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr20:25388800-25389600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr20:25388800-25389600	Flanking Active TSS	Fetal Thymus	thymus
42	chr20:25388800-25389600	Flanking Active TSS	NHEK	skin
43	chr20:25388800-25389600	Flanking Active TSS	Osteobl	bone
44	chr20:25388800-25389800	Enhancers	Pancreas	Pancrea
45	chr20:25388800-25389800	Flanking Active TSS	HMEC	breast
46	chr20:25388800-25389800	Flanking Active TSS	HUVEC	blood vessel
47	chr20:25388800-25390000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr20:25388800-25390000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:25388800-25418000	Weak transcription	Gastric	stomach
50	chr20:25389000-25389400	Enhancers	Primary B cells from peripheral blood	blood

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