Variant report

Variant	rs552150887
Chromosome Location	chr20:1206534-1206535
allele	-/TG
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	MAX	chr20:1206410-1207808	A549	lung:	n/a	chr20:1207386-1207395
2	MAX	chr20:1206472-1207693	A549	lung:	n/a	chr20:1207386-1207395
3	MAZ	chr20:1206086-1207723	K562	blood:	n/a	chr20:1207386-1207395
4	MAX	chr20:1206452-1206903	MCF-7	breast:	n/a	n/a
5	SP4	chr20:1206494-1206771	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr20:1206511-1207385	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr20:1206503-1207364	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr20:1206472-1207137	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr20:1205936-1207530	HepG2	liver:	n/a	chr20:1207386-1207395
10	POLR2A	chr20:1206525-1207200	PFSK-1	brain:	n/a	n/a
11	CHD2	chr20:1206481-1206676	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr20:1206494-1207387	Gliobla	brain:	n/a	n/a
13	MAZ	chr20:1205938-1207684	IMR90	lung:	n/a	chr20:1207386-1207395
14	CEBPD	chr20:1206481-1207088	HepG2	liver:	n/a	n/a
15	MAX	chr20:1206468-1207601	HCT-116	colon:	n/a	chr20:1207386-1207395
16	IRF1	chr20:1206405-1206887	K562	blood:	n/a	n/a
17	POLR2A	chr20:1206462-1207661	K562	blood:	n/a	n/a
18	JUND	chr20:1206532-1206973	A549	lung:	n/a	n/a
19	TEAD4	chr20:1206531-1207074	SK-N-SH	brain:	n/a	n/a
20	SP1	chr20:1206527-1207000	A549	lung:	n/a	n/a
21	TAF1	chr20:1206494-1206903	K562	blood:	n/a	n/a
22	MAX	chr20:1206468-1207084	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr20:1206530-1207472	K562	blood:	n/a	chr20:1207386-1207395
24	POLR2A	chr20:1206488-1206912	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1206512..1208051-chr20:1245857..1247433,2	K562	blood:
2	chr20:1204614..1208313-chr20:1245857..1250887,4	K562	blood:

Variant related genes	Relation type
RAD21L1	TF binding region
ENSG00000101298	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv516776	chr20:1195784-1233893	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912586	chr20:1195784-1248286	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv518957	chr20:1195784-1250463	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3436470	chr20:1205377-1207925	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3509885	chr20:1205427-1207700	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3509887	chr20:1205427-1207700	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv912587	chr20:1205886-1248286	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv3435944	chr20:1206002-1207250	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1205800-1206800	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
2	chr20:1205800-1207000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr20:1205800-1207000	Active TSS	A549	lung
4	chr20:1205800-1207200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr20:1205800-1207400	Active TSS	Primary T cells from cord blood	blood
6	chr20:1205800-1207600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:1205800-1207600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr20:1205800-1207800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr20:1205800-1207800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:1205800-1207800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr20:1205800-1207800	Active TSS	Brain Cingulate Gyrus	brain
12	chr20:1206000-1206600	Active TSS	Right Atrium	heart
13	chr20:1206000-1206800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:1206000-1206800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr20:1206000-1206800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
16	chr20:1206000-1206800	Active TSS	Primary B cells from peripheral blood	blood
17	chr20:1206000-1206800	Active TSS	Primary hematopoietic stem cells	blood
18	chr20:1206000-1206800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr20:1206000-1206800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr20:1206000-1206800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr20:1206000-1206800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr20:1206000-1206800	Enhancers	Liver	Liver
23	chr20:1206000-1206800	Active TSS	Duodenum Mucosa	Duodenum
24	chr20:1206000-1206800	Active TSS	Fetal Intestine Large	intestine
25	chr20:1206000-1206800	Active TSS	Left Ventricle	heart
26	chr20:1206000-1206800	Active TSS	Lung	lung
27	chr20:1206000-1206800	Active TSS	Rectal Smooth Muscle	rectum
28	chr20:1206000-1206800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr20:1206000-1206800	Bivalent/Poised TSS	Thymus	Thymus
30	chr20:1206000-1206800	Active TSS	HMEC	breast
31	chr20:1206000-1206800	Active TSS	HSMM	muscle
32	chr20:1206000-1206800	Active TSS	HSMMtube	muscle
33	chr20:1206000-1206800	Active TSS	Osteobl	bone
34	chr20:1206000-1207000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr20:1206000-1207000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:1206000-1207000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:1206000-1207000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr20:1206000-1207000	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr20:1206000-1207000	Active TSS	NH-A	brain
40	chr20:1206000-1207200	Active TSS	Brain Hippocampus Middle	brain
41	chr20:1206000-1207200	Active TSS	Esophagus	oesophagus
42	chr20:1206000-1207400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr20:1206000-1207400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr20:1206000-1207400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr20:1206000-1207600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:1206000-1207600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:1206000-1207600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr20:1206000-1207600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr20:1206000-1207600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:1206000-1207600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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