Variant report

Variant	rs10086247
Chromosome Location	chr8:10586213-10586214
allele	A/G
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	TEAD4	chr8:10586077-10586344	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr8:10586140-10586290	SAEC	small airway:	n/a	n/a
3	RAD21	chr8:10585889-10586632	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr8:10586160-10586310	HBMEC	blood vessel:	n/a	chr8:10586287-10586305
5	BACH1	chr8:10586165-10586427	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr8:10586200-10586350	BE2_C	brain:	n/a	chr8:10586287-10586305
7	CTCF	chr8:10586205-10586365	Hela-S3	cervix:	n/a	chr8:10586287-10586305
8	RAD21	chr8:10586059-10586447	HCT-116	colon:	n/a	n/a
9	CTCF	chr8:10586200-10586350	WERI-Rb-1	eye:	n/a	chr8:10586287-10586305
10	SMC3	chr8:10585887-10586486	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr8:10586180-10586330	HMEC	breast:	n/a	chr8:10586287-10586305
12	RAD21	chr8:10586041-10586458	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr8:10586180-10586330	A549	lung:	n/a	chr8:10586287-10586305
14	CTCF	chr8:10586180-10586330	HRPEpiC	eye:	n/a	chr8:10586287-10586305
15	POLR2A	chr8:10585330-10588586	HUVEC	blood vessel:	n/a	n/a
16	RAD21	chr8:10586094-10586389	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr8:10586200-10586350	HBMEC	blood vessel:	n/a	chr8:10586287-10586305
18	POLR2A	chr8:10585769-10586732	HUVEC	blood vessel:	n/a	n/a
19	RAD21	chr8:10586120-10586460	H1-hESC	embryonic stem cell:	n/a	n/a
20	SMC3	chr8:10586087-10586454	Hela-S3	cervix:	n/a	n/a
21	RAD21	chr8:10586157-10586355	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr8:10586200-10586350	SAEC	small airway:	n/a	chr8:10586287-10586305
23	CTCF	chr8:10586069-10586366	H1-hESC	embryonic stem cell:	n/a	chr8:10586287-10586305
24	CTCF	chr8:10586211-10586403	Medullo	brain:	n/a	chr8:10586287-10586305
25	RAD21	chr8:10586066-10586459	A549	lung:	n/a	n/a
26	RCOR1	chr8:10586034-10586234	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr8:10586200-10586350	HUVEC	blood vessel:	n/a	chr8:10586287-10586305
28	CTCF	chr8:10586200-10586350	SK-N-SH_RA	brain:	n/a	chr8:10586287-10586305
29	CTCF	chr8:10586178-10586373	NHEK	skin:	n/a	chr8:10586287-10586305
30	POLR2A	chr8:10586047-10586355	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr8:10586203-10586392	HUVEC	blood vessel:	n/a	chr8:10586287-10586305
32	RAD21	chr8:10586016-10586499	H1-hESC	embryonic stem cell:	n/a	n/a
33	RAD21	chr8:10586156-10586348	HepG2	liver:	n/a	n/a
34	CTCF	chr8:10586042-10586519	SK-N-SH	brain:	n/a	chr8:10586287-10586305
35	CTCF	chr8:10586200-10586350	HRPEpiC	eye:	n/a	chr8:10586287-10586305

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10447691..10448293-chr8:10586014..10586821,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248896	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10088387	1.00[AMR][1000 genomes]
rs10089508	1.00[AMR][1000 genomes]
rs10099183	1.00[AMR][1000 genomes]
rs10106138	1.00[AMR][1000 genomes]
rs10109388	1.00[AMR][1000 genomes]
rs10111185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11250059	1.00[AMR][1000 genomes]
rs11250063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11984917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12546210	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28562927	1.00[AMR][1000 genomes]
rs28613894	1.00[AMR][1000 genomes]
rs28712563	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6987514	1.00[AMR][1000 genomes]
rs6993755	1.00[AMR][1000 genomes]
rs6998635	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7824572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7825310	1.00[AMR][1000 genomes]
rs7831365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833521	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
11	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10576800-10587200	Weak transcription	Gastric	stomach
2	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
3	chr8:10584000-10586400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
4	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
5	chr8:10585000-10587000	Active TSS	Lung	lung
6	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
7	chr8:10585400-10586800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:10585400-10586800	Active TSS	Adipose Nuclei	Adipose
9	chr8:10585400-10587000	Bivalent/Poised TSS	Placenta	Placenta
10	chr8:10585400-10587000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
11	chr8:10585400-10587200	Active TSS	Right Ventricle	heart
12	chr8:10585600-10586400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:10585800-10586400	Flanking Active TSS	NHEK	skin
14	chr8:10585800-10587000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:10585800-10587000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr8:10585800-10587000	Active TSS	Psoas Muscle	Psoas
17	chr8:10585800-10587000	Flanking Active TSS	HMEC	breast
18	chr8:10586000-10586400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:10586000-10586400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr8:10586000-10586400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:10586000-10586600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:10586000-10586600	Enhancers	Liver	Liver
23	chr8:10586000-10586800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr8:10586000-10586800	Bivalent/Poised TSS	Fetal Stomach	stomach
25	chr8:10586000-10587000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:10586000-10587000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:10586000-10587200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:10586000-10588600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
29	chr8:10586000-10588800	Active TSS	Right Atrium	heart
30	chr8:10586200-10586400	Flanking Active TSS	Esophagus	oesophagus
31	chr8:10586200-10586400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr8:10586200-10586400	Bivalent Enhancer	Spleen	Spleen
33	chr8:10586200-10586800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:10586200-10586800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr8:10586200-10587000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr8:10586200-10587000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:10586200-10587200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:10586200-10587200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
39	chr8:10586200-10588800	Active TSS	Hela-S3	cervix

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