Variant report

Variant	rs7003677
Chromosome Location	chr8:11560316-11560317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 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	ELF1	chr8:11559998-11560559	GM12878	blood:	n/a	chr8:11560228-11560237
3	SUZ12	chr8:11558916-11563239	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
5	POLR2A	chr8:11559838-11560954	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11560299-11560349	AoSMC	blood vessel:	n/a
2	chr8:11560299-11560349	AG09319	gingival:	n/a
3	chr8:11560299-11560349	GM12892	blood:	n/a
4	chr8:11560299-11560349	HCM	heart:	n/a
5	chr8:11560299-11560349	IMR90	lung:	fetal
6	chr8:11560299-11560349	GM12878	blood:	n/a
7	chr8:11560299-11560349	Hepatocyte	liver:	n/a
8	chr8:11560299-11560349	LNCaP	prostate:	n/a
9	chr8:11560299-11560349	A549	lung:	n/a
10	chr8:11560299-11560349	HIPEpiC	eye:	n/a
11	chr8:11560299-11560349	HRCEpiC	kidney:	n/a
12	chr8:11560299-11560349	BJ	skin:	n/a
13	chr8:11560299-11560349	NHBE	bronchial:	n/a
14	chr8:11560299-11560349	NB4	blood:	n/a
15	chr8:11560299-11560349	HNPCEpiC	eye:	n/a
16	chr8:11560299-11560349	HCF	heart:	n/a
17	chr8:11560299-11560349	T-47D	breast:	n/a
18	chr8:11560299-11560349	HMEC	breast:	n/a
19	chr8:11560299-11560349	MCF10A-Er-Src	breast:	n/a
20	chr8:11560299-11560349	HAEpiC	amniotic membrane:	n/a
21	chr8:11560299-11560349	PFSK-1	brain:	n/a
22	chr8:11560299-11560349	Jurkat	blood:	n/a
23	chr8:11560299-11560349	SK-N-SH	brain:	n/a
24	chr8:11560299-11560349	Caco-2	colon:	n/a
25	chr8:11560299-11560349	NHDF-neo	bronchial:	n/a
26	chr8:11560299-11560349	AG04449	skin:	fetal
27	chr8:11560299-11560349	GM19239	blood:	n/a
28	chr8:11560299-11560349	HL-60	blood:	n/a
29	chr8:11560299-11560349	AG10803	skin:	n/a
30	chr8:11560299-11560349	GM06990	blood:	n/a
31	chr8:11560299-11560349	NH-A	brain:	n/a
32	chr8:11560299-11560349	NT2-D1	testis:	n/a
33	chr8:11560299-11560349	HRE	kidney:	n/a
34	chr8:11560299-11560349	SKMC	muscle:	n/a
35	chr8:11560299-11560349	Hela-S3	cervix:	n/a
36	chr8:11560299-11560349	HEK293	kidney:	embryo
37	chr8:11560299-11560349	HepG2	liver:	n/a
38	chr8:11560299-11560349	HCPEpiC	choroid plexus:	n/a
39	chr8:11560299-11560349	HPAEpiC	pulmonary alveolar:	n/a
40	chr8:11560299-11560349	SK-N-SH_RA	brain:	n/a
41	chr8:11560299-11560349	H1-hESC	embryonic stem cell:	embryo
42	chr8:11560299-11560349	BE2_C	brain:	n/a
43	chr8:11560299-11560349	HEEpiC	esophagus:	n/a
44	chr8:11560299-11560349	AG09309	skin:	n/a
45	chr8:11560299-11560349	ECC-1	luminal epithelium:	n/a
46	chr8:11560299-11560349	GM12891	blood:	n/a
47	chr8:11560299-11560349	ovcar-3	ovarian:	n/a
48	chr8:11560299-11560349	K562	blood:	n/a
49	chr8:11560299-11560349	HUVEC	blood vessel:	n/a
50	chr8:11560299-11560349	CMK	blood:	n/a

No data

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10088151	0.82[CEU][hapmap]

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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11557800-11561400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr8:11558200-11560800	Active TSS	Ovary	ovary
4	chr8:11558200-11562800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:11558800-11560600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
6	chr8:11559000-11561400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:11559000-11561400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:11559000-11563000	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr8:11559200-11561600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr8:11559200-11563200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:11559400-11560600	Flanking Active TSS	Pancreas	Pancrea
12	chr8:11559400-11561000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr8:11559400-11561400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr8:11559400-11561400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:11559400-11561400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr8:11559400-11561800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr8:11559400-11563000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
18	chr8:11559400-11563200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr8:11559400-11563200	Active TSS	Gastric	stomach
20	chr8:11559600-11560400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:11559600-11560400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:11559600-11560600	Flanking Active TSS	Right Ventricle	heart
23	chr8:11559600-11560600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr8:11559600-11560800	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr8:11559600-11561400	Bivalent Enhancer	Brain Anterior Caudate	brain
26	chr8:11559600-11561400	Bivalent Enhancer	Colonic Mucosa	Colon
27	chr8:11559600-11561600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
28	chr8:11559600-11561600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:11559600-11562400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
30	chr8:11559600-11562400	Bivalent Enhancer	Fetal Brain Male	brain
31	chr8:11559600-11562800	Bivalent Enhancer	Esophagus	oesophagus
32	chr8:11559800-11560400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:11559800-11560400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:11559800-11560400	Enhancers	Fetal Heart	heart
35	chr8:11559800-11560400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
36	chr8:11559800-11560400	Bivalent Enhancer	HMEC	breast
37	chr8:11559800-11560600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:11559800-11560600	Bivalent Enhancer	Placenta	Placenta
39	chr8:11559800-11560600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
40	chr8:11559800-11560600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
41	chr8:11559800-11560600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
42	chr8:11559800-11561200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr8:11559800-11561600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:11559800-11561600	Bivalent Enhancer	Spleen	Spleen
45	chr8:11559800-11561800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:11559800-11562200	Bivalent Enhancer	Fetal Lung	lung
47	chr8:11559800-11563200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr8:11560000-11560400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr8:11560000-11560400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
50	chr8:11560000-11560400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links