Variant report

Variant	rs565129635
Chromosome Location	chr20:1165630-1165631
allele	C/T
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	chr20:1165383-1166141	K562	blood:	n/a	n/a
2	YY1	chr20:1165360-1166207	HepG2	liver:	n/a	chr20:1165723-1165732 chr20:1166168-1166179
3	MAZ	chr20:1165433-1165855	HepG2	liver:	n/a	n/a
4	ELF1	chr20:1165452-1165766	HepG2	liver:	n/a	chr20:1165639-1165651
5	POLR2A	chr20:1165010-1166108	H1-neurons	neurons:	n/a	n/a
6	ZBTB7A	chr20:1165453-1166680	K562	blood:	n/a	n/a
7	MAX	chr20:1165545-1166240	ECC-1	luminal epithelium:	n/a	n/a
8	ELF1	chr20:1165392-1165754	HepG2	liver:	n/a	chr20:1165639-1165651
9	HMGN3	chr20:1165229-1166320	K562	blood:	n/a	n/a
10	UBTF	chr20:1165349-1166318	K562	blood:	n/a	n/a
11	TBP	chr20:1165368-1165631	K562	blood:	n/a	n/a
12	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
13	BACH1	chr20:1165128-1165647	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr20:1165614-1165974	HepG2	liver:	n/a	n/a
15	E2F6	chr20:1165389-1166089	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
16	MAX	chr20:1165309-1166410	A549	lung:	n/a	n/a
17	POLR2A	chr20:1165123-1165903	H1-neurons	neurons:	n/a	n/a
18	SIN3A	chr20:1165363-1165990	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB7A	chr20:1165499-1166044	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr20:1165285-1166867	K562	blood:	n/a	n/a
21	UBTF	chr20:1165297-1166787	K562	blood:	n/a	n/a
22	POLR2A	chr20:1164896-1165638	HepG2	liver:	n/a	n/a
23	POLR2A	chr20:1165392-1165914	HepG2	liver:	n/a	n/a
24	ELF1	chr20:1165392-1165727	K562	blood:	n/a	chr20:1165639-1165651
25	MAX	chr20:1165525-1165935	HepG2	liver:	n/a	n/a
26	MAX	chr20:1165133-1166220	HepG2	liver:	n/a	chr20:1165200-1165208
27	MAX	chr20:1165303-1166038	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr20:1165184-1166283	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
29	MAX	chr20:1165450-1165897	A549	lung:	n/a	n/a
30	MYC	chr20:1165328-1165755	K562	blood:	n/a	n/a
31	CCNT2	chr20:1165384-1166670	K562	blood:	n/a	chr20:1166606-1166615 chr20:1165723-1165732 chr20:1166265-1166274
32	MYC	chr20:1165288-1165931	K562	blood:	n/a	n/a
33	MAX	chr20:1165241-1166093	K562	blood:	n/a	n/a
34	ELF1	chr20:1165348-1165718	GM12878	blood:	n/a	chr20:1165639-1165651
35	ELF1	chr20:1165441-1165869	K562	blood:	n/a	chr20:1165639-1165651
36	HDAC2	chr20:1165408-1166095	HepG2	liver:	n/a	n/a
37	MAZ	chr20:1165255-1167048	K562	blood:	n/a	n/a
38	MAX	chr20:1165622-1165904	K562	blood:	n/a	n/a
39	ZBTB7A	chr20:1165544-1166892	ECC-1	luminal epithelium:	n/a	n/a
40	MAX	chr20:1165288-1165979	H1-hESC	embryonic stem cell:	n/a	n/a
41	E2F6	chr20:1165512-1165935	H1-hESC	embryonic stem cell:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
42	POLR2A	chr20:1165390-1166068	K562	blood:	n/a	n/a

Variant related genes	Relation type
TMEM74B	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv3437185	chr20:1164977-1167825	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3448468	chr20:1165152-1167550	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1164800-1166800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr20:1165000-1166000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:1165000-1166200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
4	chr20:1165000-1166200	Active TSS	Brain Anterior Caudate	brain
5	chr20:1165000-1166800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr20:1165000-1166800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr20:1165000-1166800	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr20:1165000-1167000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr20:1165200-1165800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:1165200-1165800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr20:1165200-1165800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr20:1165200-1166000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr20:1165200-1166000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
14	chr20:1165200-1166000	Enhancers	Gastric	stomach
15	chr20:1165200-1166000	Flanking Active TSS	Lung	lung
16	chr20:1165200-1166000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr20:1165200-1166000	Flanking Active TSS	Right Ventricle	heart
18	chr20:1165200-1166400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr20:1165200-1166600	Active TSS	Left Ventricle	heart
20	chr20:1165200-1166600	Active TSS	Right Atrium	heart
21	chr20:1165200-1166600	Active TSS	K562	blood
22	chr20:1165200-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr20:1165200-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr20:1165400-1165800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr20:1165400-1165800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr20:1165400-1165800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr20:1165400-1165800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr20:1165400-1165800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr20:1165400-1165800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr20:1165400-1165800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:1165400-1165800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:1165400-1165800	Active TSS	Ovary	ovary
33	chr20:1165400-1165800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr20:1165400-1166000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr20:1165400-1166000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr20:1165400-1166000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr20:1165400-1166000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr20:1165400-1166000	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr20:1165400-1166000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:1165400-1166000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr20:1165400-1166000	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr20:1165400-1166200	Bivalent Enhancer	Spleen	Spleen
43	chr20:1165400-1166400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:1165400-1166400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr20:1165400-1166400	Bivalent/Poised TSS	HMEC	breast
46	chr20:1165400-1166600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:1165400-1166600	Active TSS	A549	lung
48	chr20:1165400-1166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr20:1165600-1165800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr20:1165600-1165800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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