Variant report

Variant	rs151172032
Chromosome Location	chr20:25272025-25272026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:25272013-25272318	A549	lung:	n/a	n/a
2	POLR2A	chr20:25270778-25273679	A549	lung:	n/a	n/a
3	POLR2A	chr20:25271036-25273641	K562	blood:	n/a	n/a
4	POLR2A	chr20:25271935-25272297	GM12878	blood:	n/a	n/a
5	POLR2A	chr20:25271285-25272050	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr20:25271298-25272041	A549	lung:	n/a	n/a
7	POLR2A	chr20:25271875-25272309	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr20:25271143-25272356	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr20:25271217-25273748	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr20:25271793-25272948	MCF-7	breast:	n/a	n/a
11	POLR2A	chr20:25271834-25272071	GM12878	blood:	n/a	n/a
12	POLR2A	chr20:25270585-25278923	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr20:25271545-25273019	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr20:25271794-25272093	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr20:25271102-25272881	GM12878	blood:	n/a	n/a
16	POLR2A	chr20:25271624-25272360	GM12878	blood:	n/a	n/a
17	POLR2A	chr20:25270332-25278907	A549	lung:	n/a	n/a
18	POLR2A	chr20:25270412-25273689	A549	lung:	n/a	n/a
19	POLR2A	chr20:25271510-25273557	HepG2	liver:	n/a	n/a
20	POLR2A	chr20:25270832-25272416	HepG2	liver:	n/a	n/a
21	POLR2A	chr20:25271930-25272142	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr20:25271298-25272590	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25227365..25229517-chr20:25271304..25273431,2	MCF-7	breast:

No data

Variant related genes	Relation type
PYGB	TF binding region
ENSG00000100994	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	esv1798601	chr20:25250122-25305949	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
18	nsv912827	chr20:25271326-25288632	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr20:25235600-25291200	Weak transcription	Fetal Kidney	kidney
3	chr20:25241800-25273200	Weak transcription	Stomach Mucosa	stomach
4	chr20:25247600-25277400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:25249000-25280200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:25249200-25274800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:25249200-25275000	Strong transcription	A549	lung
8	chr20:25249200-25285800	Strong transcription	Dnd41	blood
9	chr20:25249400-25274600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr20:25249400-25274800	Strong transcription	Osteobl	bone
11	chr20:25249400-25276200	Strong transcription	Fetal Intestine Large	intestine
12	chr20:25249600-25273400	Strong transcription	NHEK	skin
13	chr20:25249600-25274400	Strong transcription	Lung	lung
14	chr20:25249600-25274600	Strong transcription	Primary T cells from cord blood	blood
15	chr20:25249600-25274600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr20:25249600-25274800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr20:25249600-25275000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr20:25249600-25275000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr20:25249600-25275000	Strong transcription	NHLF	lung
20	chr20:25249600-25275200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr20:25249600-25279000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:25249600-25279400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr20:25249600-25284800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr20:25249600-25285200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr20:25249800-25273200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr20:25249800-25273400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr20:25249800-25273400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr20:25249800-25274000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr20:25249800-25274600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr20:25249800-25274600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:25249800-25275000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:25249800-25275200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr20:25249800-25275200	Strong transcription	Fetal Stomach	stomach
34	chr20:25249800-25276400	Strong transcription	Fetal Intestine Small	intestine
35	chr20:25249800-25284400	Strong transcription	Brain Germinal Matrix	brain
36	chr20:25250000-25273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:25250000-25274800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr20:25250000-25274800	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr20:25250000-25275800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:25250600-25276200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr20:25250800-25285000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:25251400-25275400	Strong transcription	Thymus	Thymus
43	chr20:25252200-25276400	Weak transcription	Hela-S3	cervix
44	chr20:25253800-25273800	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr20:25254000-25276200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr20:25254200-25274600	Weak transcription	Psoas Muscle	Psoas
47	chr20:25254200-25275000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:25254400-25287800	Weak transcription	K562	blood
49	chr20:25254800-25272600	Strong transcription	Brain Substantia Nigra	brain
50	chr20:25255000-25272400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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