Variant report

Variant	rs2515509
Chromosome Location	chr8:6422141-6422142
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	MAFF	chr8:6421740-6422188	HepG2	liver:	n/a	chr8:6422049-6422063 chr8:6421828-6421846
2	FOXA1	chr8:6421771-6422306	HepG2	liver:	n/a	n/a
3	MAFK	chr8:6421802-6422158	HepG2	liver:	n/a	chr8:6421833-6421844 chr8:6421834-6421845 chr8:6421834-6421845 chr8:6421833-6421844
4	HNF4A	chr8:6421984-6422252	HepG2	liver:	n/a	n/a
5	FOXA1	chr8:6421799-6422232	HepG2	liver:	n/a	n/a
6	FOXA2	chr8:6421637-6422493	HepG2	liver:	n/a	n/a
7	FOXA2	chr8:6421910-6422210	HepG2	liver:	n/a	n/a
8	KAP1	chr8:6421877-6422238	U2OS	brain:	n/a	n/a
9	FOXA1	chr8:6421588-6422368	HepG2	liver:	n/a	n/a
10	FOXA1	chr8:6421860-6422364	HepG2	liver:	n/a	n/a
11	MAFK	chr8:6421808-6422295	HepG2	liver:	n/a	chr8:6421833-6421844 chr8:6421834-6421845 chr8:6421834-6421845 chr8:6421833-6421844
12	ARID3A	chr8:6421737-6422437	HepG2	liver:	n/a	chr8:6422337-6422353

Variant related genes	Relation type
ANGPT2	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10103026	0.87[ASN][1000 genomes]
rs10108504	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs1562714	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs1562715	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2167072	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2442508	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2442509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442591	1.00[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs2515507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515513	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28539969	0.87[ASN][1000 genomes]
rs2922808	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2922816	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2922864	0.83[ASN][1000 genomes]
rs2922884	0.87[ASN][1000 genomes]
rs2922890	0.87[ASN][1000 genomes]
rs2922893	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2922894	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2959763	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2959764	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs2959765	0.87[ASN][1000 genomes]
rs2959767	0.90[ASN][1000 genomes]
rs2959768	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs2959769	1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs3020227	0.82[ASN][1000 genomes]
rs3020229	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs3020230	0.87[ASN][1000 genomes]
rs3020231	0.87[ASN][1000 genomes]
rs3020232	0.87[ASN][1000 genomes]
rs3020233	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs3020234	0.87[ASN][1000 genomes]
rs3020235	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs3020236	0.92[ASN][1000 genomes]
rs56954299	0.97[ASN][1000 genomes]
rs61131320	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991221	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7004238	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs73507187	0.90[ASN][1000 genomes]
rs73507189	0.90[ASN][1000 genomes]
rs9314604	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv890057	chr8:6317165-6427868	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	esv3421336	chr8:6421944-6427042	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:6407800-6423800	Weak transcription	Spleen	Spleen
3	chr8:6415200-6424000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:6416400-6422200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:6416800-6442400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:6417600-6424000	Weak transcription	NHEK	skin
7	chr8:6417600-6442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:6418600-6422600	Enhancers	HepG2	liver
9	chr8:6419000-6462400	Weak transcription	GM12878-XiMat	blood
10	chr8:6419600-6423400	Weak transcription	Primary T cells from cord blood	blood
11	chr8:6419600-6423800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:6419800-6423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:6420000-6427400	Weak transcription	Thymus	Thymus
14	chr8:6420600-6423800	Weak transcription	Pancreas	Pancrea
15	chr8:6420800-6423800	Weak transcription	Gastric	stomach
16	chr8:6420800-6424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:6420800-6424200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:6420800-6424400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:6420800-6427600	Weak transcription	NHDF-Ad	bronchial
20	chr8:6420800-6429800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:6420800-6433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:6421000-6422200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:6421000-6423000	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:6421000-6423800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:6421000-6423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:6421000-6423800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:6421000-6423800	Weak transcription	Esophagus	oesophagus
28	chr8:6421000-6423800	Weak transcription	Lung	lung
29	chr8:6421000-6423800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:6421000-6424600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:6421000-6424800	Weak transcription	Fetal Thymus	thymus
32	chr8:6421000-6425200	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:6421000-6425400	Weak transcription	Fetal Stomach	stomach
34	chr8:6421000-6425800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:6421000-6426000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:6421000-6427400	Weak transcription	Left Ventricle	heart
37	chr8:6421000-6427400	Weak transcription	Ovary	ovary
38	chr8:6421000-6427800	Weak transcription	Aorta	Aorta
39	chr8:6421000-6427800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:6421000-6435400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:6421200-6424000	Weak transcription	Adipose Nuclei	Adipose
42	chr8:6421200-6424800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:6421200-6425200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:6421200-6425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:6421200-6436200	Weak transcription	Right Atrium	heart
46	chr8:6421400-6427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:6421400-6433200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:6421600-6422400	Enhancers	Fetal Intestine Large	intestine
49	chr8:6421600-6426800	Weak transcription	HUVEC	blood vessel
50	chr8:6421600-6462800	Weak transcription	Primary B cells from cord blood	blood

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