Variant report

Variant	rs73814883
Chromosome Location	chr4:53728054-53728055
allele	C/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	RCOR1	chr4:53727953-53728884	K562	blood:	n/a	n/a
2	TCF12	chr4:53728032-53728852	ECC-1	luminal epithelium:	n/a	chr4:53728218-53728228
3	POLR2A	chr4:53728008-53728835	MCF-7	breast:	n/a	n/a
4	GATA3	chr4:53727874-53728251	T-47D	breast:	n/a	n/a
5	EGR1	chr4:53727993-53728525	K562	blood:	n/a	chr4:53728435-53728445 chr4:53728430-53728443 chr4:53728430-53728443 chr4:53728429-53728444
6	FOXP2	chr4:53727997-53728715	PFSK-1	brain:	n/a	n/a
7	RAD21	chr4:53728025-53728698	ECC-1	luminal epithelium:	n/a	n/a
8	TBP	chr4:53727916-53728704	K562	blood:	n/a	n/a
9	HA-E2F1	chr4:53727679-53728844	MCF-7	breast:	n/a	chr4:53728200-53728210 chr4:53728435-53728444 chr4:53728439-53728449
10	POLR2A	chr4:53728005-53728708	GM12892	blood:	n/a	n/a
11	POLR2A	chr4:53728015-53728704	ProgFib	skin:	n/a	n/a
12	JUN	chr4:53728037-53728064	H1-hESC	embryonic stem cell:	n/a	chr4:53728051-53728060
13	RAD21	chr4:53727978-53728887	SK-N-SH_RA	brain:	n/a	n/a
14	ZBTB7A	chr4:53727992-53728512	ECC-1	luminal epithelium:	n/a	n/a
15	FOXA1	chr4:53727930-53728239	T-47D	breast:	n/a	n/a
16	E2F6	chr4:53727459-53729023	H1-hESC	embryonic stem cell:	n/a	chr4:53728200-53728210 chr4:53728643-53728654 chr4:53728435-53728444 chr4:53728439-53728449
17	POLR2A	chr4:53728042-53728612	GM12878	blood:	n/a	n/a
18	HMGN3	chr4:53728013-53729012	K562	blood:	n/a	n/a
19	MAZ	chr4:53727966-53728744	K562	blood:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
20	CTCF	chr4:53728000-53728150	HFF	foreskin:	n/a	n/a
21	POLR2A	chr4:53727996-53728747	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:53728040-53728777	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr4:53727921-53728922	HEK293	kidney:	n/a	n/a
24	PAX5	chr4:53727914-53728444	GM12878	blood:	n/a	n/a
25	E2F4	chr4:53728024-53729028	K562	blood:	n/a	chr4:53728200-53728210 chr4:53728435-53728444 chr4:53728439-53728449
26	MAX	chr4:53727606-53729106	ECC-1	luminal epithelium:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
27	RAD21	chr4:53727676-53728947	H1-hESC	embryonic stem cell:	n/a	n/a
28	PAX5	chr4:53728012-53728344	GM12878	blood:	n/a	n/a
29	MAX	chr4:53727917-53728831	GM12878	blood:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
30	BACH1	chr4:53727935-53728565	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr4:53727599-53729010	H1-hESC	embryonic stem cell:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
32	MAX	chr4:53727927-53728998	SK-N-SH	brain:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
33	MAX	chr4:53728048-53729007	A549	lung:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
34	SETDB1	chr4:53727772-53729028	K562	blood:	n/a	n/a
35	POLR2A	chr4:53727983-53728811	K562	blood:	n/a	n/a
36	PAX5	chr4:53728012-53728296	GM12878	blood:	n/a	n/a
37	MAX	chr4:53727977-53728886	SK-N-SH	brain:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
38	E2F6	chr4:53727950-53729015	K562	blood:	n/a	chr4:53728200-53728210 chr4:53728643-53728654 chr4:53728435-53728444 chr4:53728439-53728449
39	SIN3A	chr4:53726721-53729851	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr4:53727977-53728991	K562	blood:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
41	EGR1	chr4:53727983-53728533	K562	blood:	n/a	chr4:53728435-53728445 chr4:53728430-53728443 chr4:53728430-53728443 chr4:53728429-53728444
42	POLR2A	chr4:53728021-53729235	K562	blood:	n/a	n/a
43	PAX5	chr4:53727964-53728634	GM12892	blood:	n/a	n/a
44	CCNT2	chr4:53727778-53728985	K562	blood:	n/a	chr4:53728435-53728444
45	NFIC	chr4:53727998-53728497	ECC-1	luminal epithelium:	n/a	n/a
46	MXI1	chr4:53726951-53732052	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr4:53727839-53728873	MCF-7	breast:	n/a	n/a
48	MAX	chr4:53727604-53729043	ECC-1	luminal epithelium:	n/a	chr4:53728303-53728313 chr4:53728433-53728443
49	MXI1	chr4:53727567-53729029	IMR90	lung:	n/a	n/a
50	POLR2A	chr4:53727789-53729591	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:53728038-53728088	BJ	skin:	n/a
2	chr4:53728038-53728088	HNPCEpiC	eye:	n/a
3	chr4:53728038-53728088	GM19239	blood:	n/a
4	chr4:53728038-53728088	ECC-1	luminal epithelium:	n/a
5	chr4:53728038-53728088	RPTEC	kidney:	n/a
6	chr4:53728038-53728088	AG04450	lung:	fetal
7	chr4:53728038-53728088	ovcar-3	ovarian:	n/a
8	chr4:53728038-53728088	NHDF-neo	bronchial:	n/a
9	chr4:53728038-53728088	NB4	blood:	n/a
10	chr4:53728038-53728088	HRPEpiC	eye:	n/a
11	chr4:53728038-53728088	LNCaP	prostate:	n/a
12	chr4:53728038-53728088	SAEC	small airway:	n/a
13	chr4:53728038-53728088	Jurkat	blood:	n/a
14	chr4:53728038-53728088	T-47D	breast:	n/a
15	chr4:53728038-53728088	HEEpiC	esophagus:	n/a
16	chr4:53728038-53728088	HepG2	liver:	n/a
17	chr4:53728038-53728088	HL-60	blood:	n/a
18	chr4:53728038-53728088	K562	blood:	n/a
19	chr4:53728038-53728088	Caco-2	colon:	n/a
20	chr4:53728038-53728088	HUVEC	blood vessel:	n/a
21	chr4:53728038-53728088	SK-N-SH	brain:	n/a
22	chr4:53728038-53728088	ProgFib	skin:	n/a
23	chr4:53728038-53728088	IMR90	lung:	fetal
24	chr4:53728038-53728088	AG04449	skin:	fetal
25	chr4:53728038-53728088	Hepatocyte	liver:	n/a
26	chr4:53728038-53728088	CMK	blood:	n/a
27	chr4:53728038-53728088	GM06990	blood:	n/a
28	chr4:53728038-53728088	HRCEpiC	kidney:	n/a
29	chr4:53728038-53728088	HEK293	kidney:	embryo
30	chr4:53728038-53728088	HCPEpiC	choroid plexus:	n/a
31	chr4:53728038-53728088	Hela-S3	cervix:	n/a
32	chr4:53728038-53728088	NT2-D1	testis:	n/a
33	chr4:53728038-53728088	SK-N-MC	brain:	n/a
34	chr4:53728038-53728088	U87	brain:	n/a
35	chr4:53728038-53728088	PFSK-1	brain:	n/a
36	chr4:53728038-53728088	GM12892	blood:	n/a
37	chr4:53728038-53728088	A549	lung:	n/a
38	chr4:53728038-53728088	PANC-1	pancreas:	n/a
39	chr4:53728038-53728088	SK-N-SH_RA	brain:	n/a
40	chr4:53728038-53728088	HMEC	breast:	n/a
41	chr4:53728038-53728088	NHBE	bronchial:	n/a
42	chr4:53728038-53728088	AoSMC	blood vessel:	n/a
43	chr4:53728038-53728088	H1-hESC	embryonic stem cell:	embryo
44	chr4:53728038-53728088	HCF	heart:	n/a
45	chr4:53728038-53728088	HRE	kidney:	n/a
46	chr4:53728038-53728088	HAEpiC	amniotic membrane:	n/a
47	chr4:53728038-53728088	HCM	heart:	n/a
48	chr4:53728038-53728088	HCT-116	colon:	n/a
49	chr4:53728038-53728088	PrEC	prostate:	n/a
50	chr4:53728038-53728088	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:53525430..53527688-chr4:53726700..53729187,4	MCF-7	breast:
2	chr4:53586938..53589965-chr4:53727574..53731676,3	MCF-7	breast:
3	chr4:53577401..53580169-chr4:53726393..53730142,5	MCF-7	breast:

Variant related genes	Relation type
RASL11B	TF binding region
RASL11B	CpG island
ENSG00000109189	Chromatin interaction
ENSG00000248375	Chromatin interaction
ENSG00000226950	Chromatin interaction
ENSG00000212588	Chromatin interaction
ENSG00000264585	Chromatin interaction
ENSG00000248866	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17082074	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17630944	0.82[EUR][1000 genomes]
rs17698672	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3811781	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41279517	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58577680	0.97[ASN][1000 genomes]
rs6554057	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817433	0.95[ASN][1000 genomes]
rs6818178	0.95[ASN][1000 genomes]
rs6833350	0.83[EUR][1000 genomes]
rs6848200	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855240	0.83[EUR][1000 genomes]
rs73814875	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73814886	0.97[ASN][1000 genomes]
rs7655781	0.95[ASN][1000 genomes]
rs7670068	0.97[ASN][1000 genomes]
rs7677726	0.82[EUR][1000 genomes]
rs7685816	0.92[ASN][1000 genomes]
rs7699960	0.92[ASN][1000 genomes]
rs881744	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594201	chr4:52798624-53732445	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1004086	chr4:53698581-53773183	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	7 gene(s)	inside rSNPs	diseases
5	esv3360858	chr4:53727420-53729968	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53727200-53728200	Flanking Active TSS	Fetal Heart	heart
2	chr4:53727400-53728200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:53727400-53729600	Active TSS	Brain Angular Gyrus	brain
4	chr4:53727400-53729600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr4:53727600-53728200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:53727600-53728200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:53727600-53728200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:53727600-53728200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:53727600-53728200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:53727600-53728200	Flanking Active TSS	Fetal Brain Male	brain
11	chr4:53727600-53728200	Flanking Active TSS	Fetal Brain Female	brain
12	chr4:53727600-53728200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr4:53727600-53728400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
14	chr4:53727600-53728600	Bivalent/Poised TSS	Colonic Mucosa	Colon
15	chr4:53727600-53728800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
16	chr4:53727600-53728800	Active TSS	Brain Substantia Nigra	brain
17	chr4:53727600-53728800	Active TSS	Psoas Muscle	Psoas
18	chr4:53727600-53729200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr4:53727600-53729200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:53727600-53729200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr4:53727600-53729600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:53727600-53729600	Active TSS	NHDF-Ad	bronchial
23	chr4:53727800-53728200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:53727800-53728200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:53727800-53728200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:53727800-53728200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:53727800-53728200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
30	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
32	chr4:53727800-53728200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
38	chr4:53727800-53728200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
41	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr4:53727800-53728200	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
45	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
46	chr4:53727800-53728200	Flanking Active TSS	Fetal Lung	lung
47	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr4:53727800-53728200	Flanking Active TSS	Placenta	Placenta
49	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
50	chr4:53727800-53728200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus

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