Variant report

Variant	rs34888744
Chromosome Location	chr8:11562180-11562181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:11561295-11562513	HepG2	liver:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
2	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF2	chr8:11562117-11562246	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:11560830-11562323	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:11560889-11562476	HepG2	liver:	n/a	n/a
6	CTCF	chr8:11562180-11562330	HepG2	liver:	n/a	n/a
7	MXI1	chr8:11560914-11563929	SK-N-SH	brain:	n/a	chr8:11562429-11562438 chr8:11561975-11561990
8	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr8:11561471-11562245	HepG2	liver:	n/a	chr8:11561641-11561657
10	FOXA1	chr8:11561967-11562294	HepG2	liver:	n/a	n/a
11	TAF1	chr8:11562047-11562646	HepG2	liver:	n/a	n/a
12	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
13	YY1	chr8:11561987-11562481	H1-hESC	embryonic stem cell:	n/a	chr8:11562383-11562394
14	FOXA2	chr8:11561936-11562241	HepG2	liver:	n/a	n/a
15	MAX	chr8:11560472-11562500	HepG2	liver:	n/a	chr8:11561641-11561657
16	FOXA1	chr8:11561865-11562307	HepG2	liver:	n/a	n/a
17	CTCF	chr8:11562180-11562330	GM12871	blood:	n/a	n/a
18	CTCF	chr8:11562120-11562270	SK-N-SH_RA	brain:	n/a	n/a
19	YY1	chr8:11562034-11562509	HepG2	liver:	n/a	chr8:11562383-11562394
20	KAP1	chr8:11561449-11562244	HEK293	kidney:	n/a	n/a
21	ZNF263	chr8:11561630-11563259	HEK293-T-REx	kidney:	n/a	chr8:11562824-11562833
22	RFX5	chr8:11561247-11562677	SK-N-SH	brain:	n/a	chr8:11561976-11561991 chr8:11561680-11561689 chr8:11561676-11561691 chr8:11561981-11561990 chr8:11561976-11561991
23	FOXA2	chr8:11561978-11562360	A549	lung:	n/a	n/a
24	RAD21	chr8:11561233-11562462	SK-N-SH	brain:	n/a	chr8:11561555-11561569

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11562155-11562205	HRE	kidney:	n/a
2	chr8:11562155-11562205	HEK293	kidney:	embryo
3	chr8:11562155-11562205	SKMC	muscle:	n/a
4	chr8:11562155-11562205	HCF	heart:	n/a
5	chr8:11562155-11562205	AG10803	skin:	n/a
6	chr8:11562155-11562205	T-47D	breast:	n/a
7	chr8:11562155-11562205	GM19239	blood:	n/a
8	chr8:11562155-11562205	BE2_C	brain:	n/a
9	chr8:11562155-11562205	HL-60	blood:	n/a
10	chr8:11562155-11562205	SK-N-SH	brain:	n/a
11	chr8:11562155-11562205	SAEC	small airway:	n/a
12	chr8:11562155-11562205	PFSK-1	brain:	n/a
13	chr8:11562155-11562205	SK-N-MC	brain:	n/a
14	chr8:11562155-11562205	ovcar-3	ovarian:	n/a
15	chr8:11562155-11562205	HepG2	liver:	n/a
16	chr8:11562155-11562205	SK-N-SH_RA	brain:	n/a
17	chr8:11562155-11562205	HRCEpiC	kidney:	n/a
18	chr8:11562155-11562205	GM12891	blood:	n/a
19	chr8:11562155-11562205	IMR90	lung:	fetal
20	chr8:11562155-11562205	H1-hESC	embryonic stem cell:	embryo
21	chr8:11562155-11562205	BJ	skin:	n/a
22	chr8:11562155-11562205	HCPEpiC	choroid plexus:	n/a
23	chr8:11562155-11562205	Hela-S3	cervix:	n/a
24	chr8:11562155-11562205	CMK	blood:	n/a
25	chr8:11562155-11562205	MCF10A-Er-Src	breast:	n/a
26	chr8:11562155-11562205	AG04450	lung:	fetal
27	chr8:11562155-11562205	AG09319	gingival:	n/a
28	chr8:11562155-11562205	NT2-D1	testis:	n/a
29	chr8:11562155-11562205	AG09309	skin:	n/a
30	chr8:11562155-11562205	K562	blood:	n/a
31	chr8:11562155-11562205	Jurkat	blood:	n/a
32	chr8:11562155-11562205	AoSMC	blood vessel:	n/a
33	chr8:11562155-11562205	U87	brain:	n/a
34	chr8:11562155-11562205	HPAEpiC	pulmonary alveolar:	n/a
35	chr8:11562155-11562205	MCF-7	breast:	n/a
36	chr8:11562155-11562205	HRPEpiC	eye:	n/a
37	chr8:11562155-11562205	HMEC	breast:	n/a
38	chr8:11562155-11562205	ProgFib	skin:	n/a
39	chr8:11562155-11562205	RPTEC	kidney:	n/a
40	chr8:11562155-11562205	NH-A	brain:	n/a
41	chr8:11562155-11562205	GM12892	blood:	n/a
42	chr8:11562155-11562205	HIPEpiC	eye:	n/a
43	chr8:11562155-11562205	HCM	heart:	n/a
44	chr8:11562155-11562205	ECC-1	luminal epithelium:	n/a
45	chr8:11562155-11562205	AG04449	skin:	fetal
46	chr8:11562155-11562205	NHDF-neo	bronchial:	n/a
47	chr8:11562155-11562205	HEEpiC	esophagus:	n/a
48	chr8:11562155-11562205	HCT-116	colon:	n/a
49	chr8:11562155-11562205	NHBE	bronchial:	n/a
50	chr8:11562155-11562205	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
GATA4	TF binding region
GATA4	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10088151	0.94[ASN][1000 genomes]
rs11777611	0.93[ASN][1000 genomes]
rs11781500	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2409813	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28473684	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28530664	0.87[ASN][1000 genomes]
rs35813172	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4269498	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4489290	0.96[ASN][1000 genomes]
rs61277615	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62489319	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990313	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73203482	0.83[EUR][1000 genomes]
rs73203483	0.98[ASN][1000 genomes]
rs7817412	0.93[ASN][1000 genomes]
rs7837066	0.90[EUR][1000 genomes];0.94[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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
4	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
6	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr8:11559400-11563200	Active TSS	Gastric	stomach
8	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
11	chr8:11559800-11562200	Bivalent Enhancer	Fetal Lung	lung
12	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr8:11560000-11563000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:11560000-11563400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:11560200-11563000	Enhancers	Lung	lung
16	chr8:11560200-11563400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:11560400-11563000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:11560400-11563000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:11560400-11563200	Bivalent/Poised TSS	Stomach Mucosa	stomach
20	chr8:11560400-11568400	Active TSS	Right Atrium	heart
21	chr8:11560600-11565800	Active TSS	Right Ventricle	heart
22	chr8:11560800-11563000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:11560800-11564000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11561000-11562400	Active TSS	Fetal Heart	heart
25	chr8:11561000-11562400	Bivalent/Poised TSS	A549	lung
26	chr8:11561000-11562600	Active TSS	Left Ventricle	heart
27	chr8:11561000-11562800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:11561000-11563000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr8:11561000-11563200	Bivalent/Poised TSS	HepG2	liver
30	chr8:11561200-11562200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:11561200-11562200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr8:11561200-11562400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr8:11561200-11562800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:11561200-11563000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:11561200-11563200	Active TSS	Pancreas	Pancrea
36	chr8:11561200-11565400	Active TSS	Ovary	ovary
37	chr8:11561400-11562200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr8:11561400-11562200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:11561400-11562200	Bivalent/Poised TSS	NHEK	skin
40	chr8:11561400-11562400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:11561400-11562400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:11561400-11562400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr8:11561400-11563400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:11561400-11563800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
45	chr8:11561400-11565800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr8:11561600-11562200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:11561600-11562200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
48	chr8:11561600-11562200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr8:11561600-11562200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:11561600-11562200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links