Variant report

Variant	rs6651499
Chromosome Location	chr8:11558104-11558105
allele	C/T
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	GABPA	chr8:11557857-11558324	H1-hESC	embryonic stem cell:	n/a	chr8:11558052-11558066
2	SUZ12	chr8:11553024-11563323	NT2-D1	testis:	n/a	n/a
3	POLR2A	chr8:11557376-11558752	H1-neurons	neurons:	n/a	n/a
4	TCF12	chr8:11557950-11558244	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr8:11557537-11558576	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr8:11557766-11559289	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:11557415-11558790	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11552009..11554539-chr8:11556879..11558477,2	K562	blood:
2	chr8:11537885..11539518-chr8:11556542..11558911,2	K562	blood:

Variant related genes	Relation type
GATA4	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55982574	0.89[AFR][1000 genomes]
rs7819212	1.00[YRI][hapmap];1.00[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11555000-11558200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:11555600-11560200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:11557000-11558400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr8:11557000-11558400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr8:11557400-11558200	Flanking Active TSS	Ovary	ovary
6	chr8:11557400-11560000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr8:11557600-11558200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr8:11557600-11558200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:11557600-11558200	Bivalent Enhancer	Spleen	Spleen
10	chr8:11557600-11558400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
11	chr8:11557600-11558600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr8:11557600-11559400	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr8:11557600-11559800	Bivalent/Poised TSS	Stomach Mucosa	stomach
14	chr8:11557800-11558200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:11557800-11558200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr8:11557800-11558200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11557800-11558200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:11557800-11558200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:11557800-11558200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:11557800-11558200	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr8:11557800-11558200	Flanking Active TSS	Right Ventricle	heart
22	chr8:11557800-11558200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
23	chr8:11557800-11558400	Flanking Active TSS	Left Ventricle	heart
24	chr8:11557800-11558800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:11557800-11559400	Enhancers	Pancreas	Pancrea
26	chr8:11557800-11559800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:11557800-11560000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr8:11557800-11561400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr8:11557800-11563200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:11558000-11558200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:11558000-11558200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:11558000-11558200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
33	chr8:11558000-11558200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:11558000-11558200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:11558000-11558200	Bivalent Enhancer	Adipose Nuclei	Adipose
36	chr8:11558000-11558200	Bivalent/Poised TSS	Liver	Liver
37	chr8:11558000-11558200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
38	chr8:11558000-11558200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr8:11558000-11558200	Bivalent Enhancer	Placenta	Placenta
40	chr8:11558000-11558200	Flanking Active TSS	Gastric	stomach
41	chr8:11558000-11558200	Transcr. at gene 5' and 3'	Right Atrium	heart
42	chr8:11558000-11558200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr8:11558000-11558200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr8:11558000-11558200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
45	chr8:11558000-11558400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr8:11558000-11558400	Enhancers	Fetal Heart	heart

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