Variant report

Variant	rs13040743
Chromosome Location	chr20:1165939-1165940
allele	A/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	E2F6	chr20:1165927-1166137	K562	blood:	n/a	n/a
2	MAX	chr20:1165383-1166141	K562	blood:	n/a	n/a
3	YY1	chr20:1165360-1166207	HepG2	liver:	n/a	chr20:1165723-1165732 chr20:1166168-1166179
4	POLR2A	chr20:1165010-1166108	H1-neurons	neurons:	n/a	n/a
5	ZBTB7A	chr20:1165453-1166680	K562	blood:	n/a	n/a
6	MAX	chr20:1165545-1166240	ECC-1	luminal epithelium:	n/a	n/a
7	HMGN3	chr20:1165229-1166320	K562	blood:	n/a	n/a
8	UBTF	chr20:1165349-1166318	K562	blood:	n/a	n/a
9	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
10	ZBTB7A	chr20:1165614-1165974	HepG2	liver:	n/a	n/a
11	E2F6	chr20:1165389-1166089	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
12	MAX	chr20:1165309-1166410	A549	lung:	n/a	n/a
13	SIN3A	chr20:1165363-1165990	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr20:1165499-1166044	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr20:1165285-1166867	K562	blood:	n/a	n/a
16	UBTF	chr20:1165297-1166787	K562	blood:	n/a	n/a
17	ZBTB7A	chr20:1165739-1165997	HepG2	liver:	n/a	n/a
18	MAX	chr20:1165133-1166220	HepG2	liver:	n/a	chr20:1165200-1165208
19	MAX	chr20:1165303-1166038	H1-hESC	embryonic stem cell:	n/a	n/a
20	HEY1	chr20:1165848-1166040	K562	blood:	n/a	n/a
21	E2F6	chr20:1165184-1166283	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
22	RCOR1	chr20:1165900-1165954	HepG2	liver:	n/a	n/a
23	CCNT2	chr20:1165384-1166670	K562	blood:	n/a	chr20:1166606-1166615 chr20:1165723-1165732 chr20:1166265-1166274
24	MAX	chr20:1165241-1166093	K562	blood:	n/a	n/a
25	HDAC2	chr20:1165408-1166095	HepG2	liver:	n/a	n/a
26	MAZ	chr20:1165255-1167048	K562	blood:	n/a	n/a
27	ZBTB7A	chr20:1165544-1166892	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr20:1165288-1165979	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr20:1165897-1166102	HCT-116	colon:	n/a	n/a
30	POLR2A	chr20:1165390-1166068	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM74B-2	chr20:1165782-1166059	NONHSAT078092

Variant related genes	Relation type
TMEM74B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3370554	chr20:1165752-1167250	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 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	chr20:1165200-1166000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:1165200-1166000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
11	chr20:1165200-1166000	Enhancers	Gastric	stomach
12	chr20:1165200-1166000	Flanking Active TSS	Lung	lung
13	chr20:1165200-1166000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr20:1165200-1166000	Flanking Active TSS	Right Ventricle	heart
15	chr20:1165200-1166400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr20:1165200-1166600	Active TSS	Left Ventricle	heart
17	chr20:1165200-1166600	Active TSS	Right Atrium	heart
18	chr20:1165200-1166600	Active TSS	K562	blood
19	chr20:1165200-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr20:1165200-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr20:1165400-1166000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr20:1165400-1166000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:1165400-1166000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:1165400-1166000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr20:1165400-1166000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr20:1165400-1166000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:1165400-1166000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr20:1165400-1166000	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr20:1165400-1166200	Bivalent Enhancer	Spleen	Spleen
30	chr20:1165400-1166400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:1165400-1166400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr20:1165400-1166400	Bivalent/Poised TSS	HMEC	breast
33	chr20:1165400-1166600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr20:1165400-1166600	Active TSS	A549	lung
35	chr20:1165400-1166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr20:1165600-1166000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:1165600-1166000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr20:1165600-1166000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr20:1165600-1166000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:1165600-1166000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
41	chr20:1165600-1166000	Active TSS	Brain Angular Gyrus	brain
42	chr20:1165600-1166000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
43	chr20:1165600-1166200	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr20:1165600-1166200	Bivalent/Poised TSS	HUVEC	blood vessel
45	chr20:1165600-1166400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr20:1165600-1166400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr20:1165600-1166400	Enhancers	Primary B cells from cord blood	blood
48	chr20:1165600-1166400	Active TSS	Brain Cingulate Gyrus	brain
49	chr20:1165600-1166400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
50	chr20:1165600-1166400	Bivalent/Poised TSS	Colonic Mucosa	Colon

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