Variant report

Variant	rs1713997
Chromosome Location	chr4:57843863-57843864
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:391)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:57842986-57845530	K562	blood:	n/a	n/a
2	ELF1	chr4:57843485-57843873	A549	lung:	n/a	n/a
3	TEAD4	chr4:57843622-57843902	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:57843148-57844199	MCF10A-Er-Src	breast:	n/a	n/a
5	CREB1	chr4:57842552-57844155	HepG2	liver:	n/a	n/a
6	CTCF	chr4:57843726-57843998	GM12878	blood:	n/a	n/a
7	YY1	chr4:57843426-57844098	ECC-1	luminal epithelium:	n/a	n/a
8	TAF1	chr4:57842946-57844201	ECC-1	luminal epithelium:	n/a	n/a
9	BRCA1	chr4:57843566-57844138	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr4:57843401-57844146	GM12892	blood:	n/a	n/a
11	POU2F2	chr4:57843670-57844120	GM12891	blood:	n/a	n/a
12	USF1	chr4:57843726-57843922	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr4:57843427-57844094	HUVEC	blood vessel:	n/a	n/a
14	ELF1	chr4:57843570-57844096	HepG2	liver:	n/a	n/a
15	CHD2	chr4:57842839-57844138	HepG2	liver:	n/a	n/a
16	PML	chr4:57843213-57844137	K562	blood:	n/a	n/a
17	HCFC1	chr4:57843554-57844094	K562	blood:	n/a	n/a
18	POLR2A	chr4:57843413-57844507	PFSK-1	brain:	n/a	n/a
19	HEY1	chr4:57843358-57844582	K562	blood:	n/a	n/a
20	RELA	chr4:57843331-57844164	GM18951	blood:	n/a	n/a
21	GTF3C2	chr4:57843663-57845092	K562	blood:	n/a	n/a
22	KAP1	chr4:57843648-57844165	U2OS	brain:	n/a	n/a
23	POLR2A	chr4:57843025-57845454	GM19193	blood:	n/a	n/a
24	YY1	chr4:57843503-57844152	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:57842995-57844138	HepG2	liver:	n/a	n/a
26	ZBTB33	chr4:57843478-57844260	SK-N-SH	brain:	n/a	chr4:57843882-57843897
27	POU2F2	chr4:57843416-57844163	GM12891	blood:	n/a	n/a
28	MAZ	chr4:57842757-57844079	K562	blood:	n/a	n/a
29	REST	chr4:57843556-57843939	SK-N-SH	brain:	n/a	chr4:57843848-57843857
30	KAP1	chr4:57843460-57844099	HEK293	kidney:	n/a	n/a
31	MXI1	chr4:57843030-57844166	GM12878	blood:	n/a	n/a
32	CTCF	chr4:57843052-57844048	K562	blood:	n/a	n/a
33	POLR2A	chr4:57843325-57844148	U87	brain:	n/a	n/a
34	POLR2A	chr4:57843433-57844146	HCT-116	colon:	n/a	n/a
35	ZMIZ1	chr4:57843605-57844164	K562	blood:	n/a	n/a
36	NFYB	chr4:57843658-57844041	GM12878	blood:	n/a	n/a
37	MAX	chr4:57842636-57844048	K562	blood:	n/a	n/a
38	POLR2A	chr4:57843357-57844109	Gliobla	brain:	n/a	n/a
39	POLR2A	chr4:57842336-57844381	HepG2	liver:	n/a	n/a
40	SP1	chr4:57843555-57844154	A549	lung:	n/a	chr4:57843767-57843779 chr4:57843766-57843773 chr4:57843769-57843778 chr4:57843767-57843779
41	BACH1	chr4:57842701-57844036	H1-hESC	embryonic stem cell:	n/a	n/a
42	ELF1	chr4:57843405-57844160	MCF-7	breast:	n/a	n/a
43	YY1	chr4:57843480-57844148	GM12892	blood:	n/a	n/a
44	RCOR1	chr4:57842559-57844013	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr4:57843483-57845482	K562	blood:	n/a	n/a
46	USF2	chr4:57843554-57844035	GM12878	blood:	n/a	n/a
47	MXI1	chr4:57842644-57844103	HepG2	liver:	n/a	n/a
48	SIN3A	chr4:57842653-57844100	H1-hESC	embryonic stem cell:	n/a	n/a
49	RCOR1	chr4:57843400-57844199	GM12878	blood:	n/a	n/a
50	MAFF	chr4:57843707-57844076	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:57843834-57843884	SK-N-MC	brain:	n/a
2	chr4:57843836-57843886	T-47D	breast:	n/a
3	chr4:57843836-57843886	HUVEC	blood vessel:	n/a
4	chr4:57843834-57843884	HL-60	blood:	n/a
5	chr4:57843834-57843884	HAEpiC	amniotic membrane:	n/a
6	chr4:57843834-57843884	AoSMC	blood vessel:	n/a
7	chr4:57843834-57843884	GM19239	blood:	n/a
8	chr4:57843836-57843886	GM12892	blood:	n/a
9	chr4:57843836-57843886	GM12891	blood:	n/a
10	chr4:57843836-57843886	NHDF-neo	bronchial:	n/a
11	chr4:57843834-57843884	GM06990	blood:	n/a
12	chr4:57843836-57843886	CMK	blood:	n/a
13	chr4:57843834-57843884	HIPEpiC	eye:	n/a
14	chr4:57843834-57843884	Hepatocyte	liver:	n/a
15	chr4:57843834-57843884	AG04449	skin:	fetal
16	chr4:57843836-57843886	NT2-D1	testis:	n/a
17	chr4:57843836-57843886	HepG2	liver:	n/a
18	chr4:57843834-57843884	PFSK-1	brain:	n/a
19	chr4:57843836-57843886	HAEpiC	amniotic membrane:	n/a
20	chr4:57843834-57843884	NB4	blood:	n/a
21	chr4:57843834-57843884	HCF	heart:	n/a
22	chr4:57843834-57843884	HRCEpiC	kidney:	n/a
23	chr4:57843836-57843886	LNCaP	prostate:	n/a
24	chr4:57843834-57843884	Hela-S3	cervix:	n/a
25	chr4:57843836-57843886	U87	brain:	n/a
26	chr4:57843834-57843884	NHBE	bronchial:	n/a
27	chr4:57843834-57843884	NH-A	brain:	n/a
28	chr4:57843834-57843884	SK-N-SH	brain:	n/a
29	chr4:57843834-57843884	HEEpiC	esophagus:	n/a
30	chr4:57843836-57843886	HIPEpiC	eye:	n/a
31	chr4:57843834-57843884	AG09309	skin:	n/a
32	chr4:57843836-57843886	AoSMC	blood vessel:	n/a
33	chr4:57843836-57843886	ovcar-3	ovarian:	n/a
34	chr4:57843834-57843884	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:57843834-57843884	GM12878	blood:	n/a
36	chr4:57843836-57843886	GM06990	blood:	n/a
37	chr4:57843834-57843884	AG04450	lung:	fetal
38	chr4:57843834-57843884	H1-hESC	embryonic stem cell:	embryo
39	chr4:57843834-57843884	NHDF-neo	bronchial:	n/a
40	chr4:57843834-57843884	MCF10A-Er-Src	breast:	n/a
41	chr4:57843836-57843886	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:57843834-57843884	HMEC	breast:	n/a
43	chr4:57843834-57843884	HEK293	kidney:	embryo
44	chr4:57843836-57843886	HEEpiC	esophagus:	n/a
45	chr4:57843834-57843884	SK-N-SH_RA	brain:	n/a
46	chr4:57843836-57843886	PFSK-1	brain:	n/a
47	chr4:57843834-57843884	BJ	skin:	n/a
48	chr4:57843836-57843886	HCPEpiC	choroid plexus:	n/a
49	chr4:57843836-57843886	AG09319	gingival:	n/a
50	chr4:57843836-57843886	HCM	heart:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:57843255..57844990-chr4:57888825..57890332,2	K562	blood:
2	chr4:57771524..57779492-chr4:57841270..57849741,26	K562	blood:
3	chr22:23487336..23487847-chr4:57843436..57844248,2	HCT-116	colon:
4	chr4:57822641..57828782-chr4:57838494..57846737,10	K562	blood:
5	chr4:57843255..57845274-chr4:57888366..57890332,2	K562	blood:
6	chr4:57332287..57335313-chr4:57842375..57846822,5	K562	blood:
7	chr4:57826815..57829812-chr4:57841300..57844628,3	MCF-7	breast:
8	chr4:57333087..57335313-chr4:57842375..57845002,3	K562	blood:
9	chr4:57772839..57777394-chr4:57841397..57848240,17	K562	blood:
10	chr4:57771688..57776264-chr4:57841866..57845328,7	MCF-7	breast:

No data

Variant related genes	Relation type
POLR2B	TF binding region
POLR2B	CpG island
ENSG00000100228	Chromatin interaction
ENSG00000269949	Chromatin interaction
ENSG00000084093	Chromatin interaction
ENSG00000047315	Chromatin interaction
ENSG00000174780	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11133470	0.82[ASN][1000 genomes]
rs11735158	0.85[EUR][1000 genomes]
rs1277284	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1277287	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1277288	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1277311	0.82[CHB][hapmap]
rs1315005	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1315006	0.80[EUR][1000 genomes]
rs1625691	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1713994	0.85[EUR][1000 genomes]
rs1718837	0.91[CEU][hapmap]
rs1718882	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1718886	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2293175	0.91[ASN][1000 genomes]
rs2412772	1.00[JPT][hapmap]
rs2948348	0.94[ASN][1000 genomes]
rs35982175	0.86[ASN][1000 genomes]
rs3796531	0.87[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs73242624	0.84[EUR][1000 genomes]
rs7668814	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57840800-57846800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:57841400-57846200	Active TSS	HMEC	breast
3	chr4:57841400-57846200	Active TSS	NHEK	skin
4	chr4:57841400-57846400	Active TSS	GM12878-XiMat	blood
5	chr4:57841400-57846600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:57841400-57846600	Active TSS	Hela-S3	cervix
7	chr4:57841600-57846600	Active TSS	NHLF	lung
8	chr4:57841800-57846400	Active TSS	Fetal Intestine Large	intestine
9	chr4:57842000-57846000	Active TSS	Gastric	stomach
10	chr4:57842000-57846200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:57842000-57846200	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:57842000-57846200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:57842000-57846200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:57842000-57846200	Active TSS	Fetal Kidney	kidney
15	chr4:57842000-57846200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:57842000-57846200	Active TSS	Ovary	ovary
17	chr4:57842000-57846400	Active TSS	Fetal Intestine Small	intestine
18	chr4:57842000-57846600	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:57842000-57846600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:57842000-57846600	Active TSS	HSMM	muscle
21	chr4:57842000-57846600	Active TSS	K562	blood
22	chr4:57842000-57846800	Active TSS	HSMMtube	muscle
23	chr4:57842000-57847000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:57842000-57847000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:57842000-57847000	Active TSS	A549	lung
26	chr4:57842200-57844000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:57842200-57846000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr4:57842200-57846000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:57842200-57846000	Active TSS	Lung	lung
30	chr4:57842200-57846000	Active TSS	Small Intestine	intestine
31	chr4:57842200-57846000	Active TSS	Stomach Mucosa	stomach
32	chr4:57842200-57846600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:57842400-57846000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:57842400-57846200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:57842600-57845800	Active TSS	Colon Smooth Muscle	Colon
36	chr4:57842600-57846000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:57842600-57846000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:57842600-57846000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr4:57842600-57846000	Active TSS	Aorta	Aorta
40	chr4:57842600-57846000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr4:57842600-57846000	Active TSS	Spleen	Spleen
42	chr4:57842600-57846200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:57842600-57846200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr4:57842600-57846200	Active TSS	Fetal Lung	lung
45	chr4:57842600-57846200	Active TSS	Osteobl	bone
46	chr4:57842600-57846400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:57842600-57846600	Active TSS	NHDF-Ad	bronchial
48	chr4:57842800-57845600	Active TSS	Brain Anterior Caudate	brain
49	chr4:57842800-57845600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr4:57842800-57845800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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