Variant report

Variant	rs573990940
Chromosome Location	chr20:1165454-1165455
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

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	ELF1	chr20:1165392-1165754	HepG2	liver:	n/a	chr20:1165639-1165651
8	HMGN3	chr20:1165229-1166320	K562	blood:	n/a	n/a
9	UBTF	chr20:1165349-1166318	K562	blood:	n/a	n/a
10	TBP	chr20:1165368-1165631	K562	blood:	n/a	n/a
11	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
12	BACH1	chr20:1165128-1165647	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr20:1165389-1166089	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
14	MAX	chr20:1165309-1166410	A549	lung:	n/a	n/a
15	BHLHE40	chr20:1165353-1165553	K562	blood:	n/a	chr20:1165393-1165409
16	POLR2A	chr20:1165123-1165903	H1-neurons	neurons:	n/a	n/a
17	SIN3A	chr20:1165363-1165990	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr20:1165285-1166867	K562	blood:	n/a	n/a
19	UBTF	chr20:1165297-1166787	K562	blood:	n/a	n/a
20	POLR2A	chr20:1164896-1165638	HepG2	liver:	n/a	n/a
21	POLR2A	chr20:1165392-1165914	HepG2	liver:	n/a	n/a
22	ELF1	chr20:1165392-1165727	K562	blood:	n/a	chr20:1165639-1165651
23	MAX	chr20:1165133-1166220	HepG2	liver:	n/a	chr20:1165200-1165208
24	MAX	chr20:1165303-1166038	H1-hESC	embryonic stem cell:	n/a	n/a
25	E2F6	chr20:1165184-1166283	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
26	MAX	chr20:1165450-1165897	A549	lung:	n/a	n/a
27	MYC	chr20:1165328-1165755	K562	blood:	n/a	n/a
28	HDAC2	chr20:1165281-1165509	K562	blood:	n/a	n/a
29	CCNT2	chr20:1165384-1166670	K562	blood:	n/a	chr20:1166606-1166615 chr20:1165723-1165732 chr20:1166265-1166274
30	MYC	chr20:1165288-1165931	K562	blood:	n/a	n/a
31	POLR2A	chr20:1165434-1165627	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr20:1165241-1166093	K562	blood:	n/a	n/a
33	ELF1	chr20:1165348-1165718	GM12878	blood:	n/a	chr20:1165639-1165651
34	ELF1	chr20:1165441-1165869	K562	blood:	n/a	chr20:1165639-1165651
35	HDAC2	chr20:1165408-1166095	HepG2	liver:	n/a	n/a
36	MAZ	chr20:1165255-1167048	K562	blood:	n/a	n/a
37	MAX	chr20:1165288-1165979	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr20:1165390-1166068	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1165404-1165454	HCF	heart:	n/a
2	chr20:1165404-1165454	HCM	heart:	n/a
3	chr20:1165435-1165485	HCF	heart:	n/a
4	chr20:1165404-1165454	NH-A	brain:	n/a
5	chr20:1165435-1165485	A549	lung:	n/a
6	chr20:1165435-1165485	AG09309	skin:	n/a
7	chr20:1165435-1165485	GM12891	blood:	n/a
8	chr20:1165404-1165454	AG10803	skin:	n/a
9	chr20:1165404-1165454	H1-hESC	embryonic stem cell:	embryo
10	chr20:1165435-1165485	HEEpiC	esophagus:	n/a
11	chr20:1165404-1165454	BJ	skin:	n/a
12	chr20:1165435-1165485	Jurkat	blood:	n/a
13	chr20:1165404-1165454	AG09309	skin:	n/a
14	chr20:1165404-1165454	GM12891	blood:	n/a
15	chr20:1165435-1165485	GM19239	blood:	n/a
16	chr20:1165435-1165485	HNPCEpiC	eye:	n/a
17	chr20:1165435-1165485	HUVEC	blood vessel:	n/a
18	chr20:1165404-1165454	GM12892	blood:	n/a
19	chr20:1165435-1165485	T-47D	breast:	n/a
20	chr20:1165404-1165454	HIPEpiC	eye:	n/a
21	chr20:1165404-1165454	MCF-7	breast:	n/a
22	chr20:1165404-1165454	HUVEC	blood vessel:	n/a
23	chr20:1165404-1165454	Hepatocyte	liver:	n/a
24	chr20:1165404-1165454	Hela-S3	cervix:	n/a
25	chr20:1165435-1165485	HRPEpiC	eye:	n/a
26	chr20:1165435-1165485	LNCaP	prostate:	n/a
27	chr20:1165404-1165454	AoSMC	blood vessel:	n/a
28	chr20:1165404-1165454	HRPEpiC	eye:	n/a
29	chr20:1165404-1165454	Caco-2	colon:	n/a
30	chr20:1165435-1165485	HPAEpiC	pulmonary alveolar:	n/a
31	chr20:1165435-1165485	BE2_C	brain:	n/a
32	chr20:1165435-1165485	MCF10A-Er-Src	breast:	n/a
33	chr20:1165404-1165454	HCT-116	colon:	n/a
34	chr20:1165435-1165485	AG10803	skin:	n/a
35	chr20:1165404-1165454	PANC-1	pancreas:	n/a
36	chr20:1165435-1165485	NH-A	brain:	n/a
37	chr20:1165404-1165454	IMR90	lung:	fetal
38	chr20:1165404-1165454	SK-N-SH_RA	brain:	n/a
39	chr20:1165404-1165454	ovcar-3	ovarian:	n/a
40	chr20:1165404-1165454	ProgFib	skin:	n/a
41	chr20:1165435-1165485	HMEC	breast:	n/a
42	chr20:1165404-1165454	HRE	kidney:	n/a
43	chr20:1165435-1165485	NT2-D1	testis:	n/a
44	chr20:1165435-1165485	HEK293	kidney:	embryo
45	chr20:1165435-1165485	ovcar-3	ovarian:	n/a
46	chr20:1165404-1165454	HepG2	liver:	n/a
47	chr20:1165404-1165454	HRCEpiC	kidney:	n/a
48	chr20:1165435-1165485	SK-N-MC	brain:	n/a
49	chr20:1165435-1165485	Hela-S3	cervix:	n/a
50	chr20:1165435-1165485	AG04450	lung:	fetal

No data

Variant related genes	Relation type
TMEM74B	TF binding region
TMEM74B	CpG island

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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1164600-1165600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr20:1164800-1165600	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr20:1164800-1166800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr20:1165000-1165600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr20:1165000-1165600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:1165000-1165600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr20:1165000-1165600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
8	chr20:1165000-1166000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr20:1165000-1166200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
10	chr20:1165000-1166200	Active TSS	Brain Anterior Caudate	brain
11	chr20:1165000-1166800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:1165000-1166800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr20:1165000-1166800	Bivalent/Poised TSS	Fetal Brain Female	brain
14	chr20:1165000-1167000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr20:1165200-1165600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr20:1165200-1165600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr20:1165200-1165600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr20:1165200-1165600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:1165200-1165600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
23	chr20:1165200-1165600	Flanking Active TSS	Liver	Liver
24	chr20:1165200-1165600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr20:1165200-1165600	Bivalent Enhancer	Colon Smooth Muscle	Colon
27	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr20:1165200-1165600	Bivalent Enhancer	Fetal Heart	heart
29	chr20:1165200-1165600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
33	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
34	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr20:1165200-1165800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:1165200-1165800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
37	chr20:1165200-1165800	Bivalent Enhancer	Fetal Brain Male	brain
38	chr20:1165200-1166000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr20:1165200-1166000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr20:1165200-1166000	Enhancers	Gastric	stomach
41	chr20:1165200-1166000	Flanking Active TSS	Lung	lung
42	chr20:1165200-1166000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr20:1165200-1166000	Flanking Active TSS	Right Ventricle	heart
44	chr20:1165200-1166400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr20:1165200-1166600	Active TSS	Left Ventricle	heart
46	chr20:1165200-1166600	Active TSS	Right Atrium	heart
47	chr20:1165200-1166600	Active TSS	K562	blood
48	chr20:1165200-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr20:1165200-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr20:1165400-1165600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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