Variant report

Variant	rs60419043
Chromosome Location	chr8:11559842-11559843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTBP2	chr8:11559506-11563159	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr8:11559578-11560211	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr8:11559838-11560954	H1-neurons	neurons:	n/a	n/a
6	BACH1	chr8:11559684-11559884	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11559796-11559846	AG04449	skin:	fetal
2	chr8:11559796-11559846	T-47D	breast:	n/a
3	chr8:11559796-11559846	Caco-2	colon:	n/a
4	chr8:11559796-11559846	AG10803	skin:	n/a
5	chr8:11559796-11559846	BE2_C	brain:	n/a
6	chr8:11559796-11559846	RPTEC	kidney:	n/a
7	chr8:11559796-11559846	HEK293	kidney:	embryo
8	chr8:11559796-11559846	HEEpiC	esophagus:	n/a
9	chr8:11559796-11559846	U87	brain:	n/a
10	chr8:11559796-11559846	HCF	heart:	n/a
11	chr8:11559796-11559846	GM12891	blood:	n/a
12	chr8:11559796-11559846	MCF-7	breast:	n/a
13	chr8:11559796-11559846	NHBE	bronchial:	n/a
14	chr8:11559796-11559846	K562	blood:	n/a
15	chr8:11559796-11559846	BJ	skin:	n/a
16	chr8:11559796-11559846	HIPEpiC	eye:	n/a
17	chr8:11559796-11559846	HRE	kidney:	n/a
18	chr8:11559796-11559846	HepG2	liver:	n/a
19	chr8:11559796-11559846	HRPEpiC	eye:	n/a
20	chr8:11559796-11559846	SK-N-MC	brain:	n/a
21	chr8:11559796-11559846	MCF10A-Er-Src	breast:	n/a
22	chr8:11559796-11559846	ECC-1	luminal epithelium:	n/a
23	chr8:11559796-11559846	LNCaP	prostate:	n/a
24	chr8:11559796-11559846	ProgFib	skin:	n/a
25	chr8:11559796-11559846	Hela-S3	cervix:	n/a
26	chr8:11559796-11559846	HAEpiC	amniotic membrane:	n/a
27	chr8:11559796-11559846	ovcar-3	ovarian:	n/a
28	chr8:11559796-11559846	PANC-1	pancreas:	n/a
29	chr8:11559796-11559846	GM12878	blood:	n/a
30	chr8:11559796-11559846	HPAEpiC	pulmonary alveolar:	n/a
31	chr8:11559796-11559846	GM19239	blood:	n/a
32	chr8:11559796-11559846	HMEC	breast:	n/a
33	chr8:11559796-11559846	NT2-D1	testis:	n/a
34	chr8:11559796-11559846	HCPEpiC	choroid plexus:	n/a
35	chr8:11559796-11559846	CMK	blood:	n/a
36	chr8:11559796-11559846	HRCEpiC	kidney:	n/a
37	chr8:11559796-11559846	AG09319	gingival:	n/a
38	chr8:11559796-11559846	PrEC	prostate:	n/a
39	chr8:11559796-11559846	SK-N-SH	brain:	n/a
40	chr8:11559796-11559846	IMR90	lung:	fetal
41	chr8:11559796-11559846	A549	lung:	n/a
42	chr8:11559796-11559846	HNPCEpiC	eye:	n/a
43	chr8:11559796-11559846	NH-A	brain:	n/a
44	chr8:11559796-11559846	HUVEC	blood vessel:	n/a
45	chr8:11559796-11559846	AoSMC	blood vessel:	n/a
46	chr8:11559796-11559846	H1-hESC	embryonic stem cell:	embryo
47	chr8:11559796-11559846	HL-60	blood:	n/a
48	chr8:11559796-11559846	PFSK-1	brain:	n/a
49	chr8:11559796-11559846	Jurkat	blood:	n/a
50	chr8:11559796-11559846	AG04450	lung:	fetal

No data

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10088181	1.00[EUR][1000 genomes]
rs10091294	1.00[EUR][1000 genomes]
rs10094355	1.00[EUR][1000 genomes]
rs10094630	1.00[EUR][1000 genomes]
rs10096015	1.00[EUR][1000 genomes]
rs10096526	1.00[EUR][1000 genomes]
rs10097076	1.00[EUR][1000 genomes]
rs10100742	1.00[EUR][1000 genomes]
rs10101788	1.00[EUR][1000 genomes]
rs10101900	1.00[EUR][1000 genomes]
rs10102714	1.00[EUR][1000 genomes]
rs10103483	1.00[EUR][1000 genomes]
rs10105409	1.00[EUR][1000 genomes]
rs10106250	1.00[EUR][1000 genomes]
rs10108287	1.00[EUR][1000 genomes]
rs10109678	1.00[EUR][1000 genomes]
rs10109971	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10111542	1.00[EUR][1000 genomes]
rs10112464	1.00[EUR][1000 genomes]
rs10113255	1.00[EUR][1000 genomes]
rs10216815	1.00[EUR][1000 genomes]
rs2127130	1.00[EUR][1000 genomes]
rs2127131	1.00[EUR][1000 genomes]
rs2244775	1.00[EUR][1000 genomes]
rs2252818	1.00[EUR][1000 genomes]
rs2252906	1.00[EUR][1000 genomes]
rs2252908	1.00[EUR][1000 genomes]
rs2252914	1.00[EUR][1000 genomes]
rs2264307	1.00[EUR][1000 genomes]
rs2409812	1.00[EUR][1000 genomes]
rs28394863	1.00[EUR][1000 genomes]
rs28472428	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28505660	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28665608	1.00[EUR][1000 genomes]
rs4841582	1.00[EUR][1000 genomes]
rs5027656	1.00[EUR][1000 genomes]
rs55951800	1.00[EUR][1000 genomes]
rs57782848	1.00[EUR][1000 genomes]
rs58467083	1.00[EUR][1000 genomes]
rs59035560	1.00[EUR][1000 genomes]
rs61265429	1.00[EUR][1000 genomes]
rs73533953	1.00[EUR][1000 genomes]
rs73545766	1.00[EUR][1000 genomes]
rs73545784	1.00[EUR][1000 genomes]
rs73663183	1.00[EUR][1000 genomes]
rs73663184	1.00[EUR][1000 genomes]
rs73663185	1.00[EUR][1000 genomes]
rs73663187	1.00[EUR][1000 genomes]
rs73663190	1.00[EUR][1000 genomes]
rs73663191	1.00[EUR][1000 genomes]
rs73663201	1.00[EUR][1000 genomes]
rs7831152	1.00[EUR][1000 genomes]
rs7841968	1.00[EUR][1000 genomes]
rs8191510	1.00[EUR][1000 genomes]
rs8191543	1.00[EUR][1000 genomes]
rs8191573	1.00[EUR][1000 genomes]
rs8191669	1.00[EUR][1000 genomes]
rs8191682	1.00[EUR][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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11555600-11560200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:11557400-11560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr8:11557800-11560000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr8:11557800-11561400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr8:11558200-11560000	Active TSS	Right Atrium	heart
7	chr8:11558200-11560800	Active TSS	Ovary	ovary
8	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:11558800-11560600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
10	chr8:11559000-11561400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:11559000-11561400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
13	chr8:11559200-11560000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr8:11559200-11560000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:11559200-11561600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:11559400-11560600	Flanking Active TSS	Pancreas	Pancrea
18	chr8:11559400-11561000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr8:11559400-11561400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr8:11559400-11561400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:11559400-11561400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr8:11559400-11561800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:11559400-11563200	Active TSS	Gastric	stomach
26	chr8:11559600-11560000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:11559600-11560000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
28	chr8:11559600-11560000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr8:11559600-11560200	Enhancers	Liver	Liver
30	chr8:11559600-11560200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
31	chr8:11559600-11560400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:11559600-11560400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:11559600-11560600	Flanking Active TSS	Right Ventricle	heart
34	chr8:11559600-11560600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr8:11559600-11560800	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr8:11559600-11561400	Bivalent Enhancer	Brain Anterior Caudate	brain
37	chr8:11559600-11561400	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr8:11559600-11561600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
39	chr8:11559600-11561600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
41	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
42	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
43	chr8:11559800-11560000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr8:11559800-11560000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
45	chr8:11559800-11560000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:11559800-11560000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:11559800-11560000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr8:11559800-11560000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr8:11559800-11560000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
50	chr8:11559800-11560000	Active TSS	Left Ventricle	heart

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