Variant report

Variant	rs7820334
Chromosome Location	chr8:10573702-10573703
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:10573489-10574092	Hela-S3	cervix:	n/a	n/a
2	GTF2F1	chr8:10573667-10573954	Hela-S3	cervix:	n/a	n/a
3	HMGN3	chr8:10573529-10574303	K562	blood:	n/a	n/a
4	RCOR1	chr8:10573354-10574026	K562	blood:	n/a	n/a
5	GABPA	chr8:10573565-10574047	K562	blood:	n/a	n/a
6	GATA1	chr8:10573162-10574182	K562	blood:	n/a	n/a
7	E2F6	chr8:10573625-10573881	K562	blood:	n/a	chr8:10573697-10573709
8	BHLHE40	chr8:10573631-10574069	K562	blood:	n/a	n/a
9	TBP	chr8:10573679-10574069	K562	blood:	n/a	n/a
10	SMC3	chr8:10573592-10574040	Hela-S3	cervix:	n/a	chr8:10573941-10573951
11	CBX3	chr8:10573588-10574056	K562	blood:	n/a	n/a
12	MXI1	chr8:10573503-10573727	Hela-S3	cervix:	n/a	n/a
13	GATA2	chr8:10573653-10574035	K562	blood:	n/a	n/a
14	RPC155	chr8:10573355-10573892	Hela-S3	cervix:	n/a	n/a
15	ZKSCAN1	chr8:10573603-10574251	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr8:10573623-10574068	Hela-S3	cervix:	n/a	n/a
17	TBL1XR1	chr8:10573660-10574011	K562	blood:	n/a	n/a
18	CEBPD	chr8:10573534-10574123	K562	blood:	n/a	n/a
19	MYC	chr8:10573620-10574030	K562	blood:	n/a	n/a
20	RCOR1	chr8:10573612-10573995	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr8:10573562-10574012	K562	blood:	n/a	n/a
22	TAL1	chr8:10573652-10574038	K562	blood:	n/a	n/a
23	ELF1	chr8:10573492-10574000	K562	blood:	n/a	n/a
24	FOS	chr8:10573580-10574103	HUVEC	blood vessel:	n/a	n/a
25	HDAC2	chr8:10573619-10573929	K562	blood:	n/a	n/a
26	HCFC1	chr8:10573646-10574027	K562	blood:	n/a	n/a
27	HDAC2	chr8:10573581-10573988	K562	blood:	n/a	n/a
28	RFX5	chr8:10573652-10573986	Hela-S3	cervix:	n/a	n/a
29	MYC	chr8:10573668-10574098	HUVEC	blood vessel:	n/a	n/a
30	RFX5	chr8:10573680-10573746	K562	blood:	n/a	n/a
31	REST	chr8:10573700-10573953	K562	blood:	n/a	n/a
32	PML	chr8:10573679-10574004	K562	blood:	n/a	n/a
33	RCOR1	chr8:10573484-10574044	K562	blood:	n/a	n/a
34	UBTF	chr8:10573531-10574074	K562	blood:	n/a	n/a
35	NR2F2	chr8:10573570-10574056	K562	blood:	n/a	n/a
36	POLR2A	chr8:10573589-10573989	K562	blood:	n/a	n/a
37	TBP	chr8:10573559-10573930	Hela-S3	cervix:	n/a	n/a
38	ZBTB7A	chr8:10573557-10573960	K562	blood:	n/a	n/a
39	MAX	chr8:10573640-10574095	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr8:10573293-10574260	HUVEC	blood vessel:	n/a	n/a
41	TCF7L2	chr8:10573697-10573896	Hela-S3	cervix:	n/a	n/a
42	GATA2	chr8:10573542-10574117	HUVEC	blood vessel:	n/a	n/a
43	TRIM28	chr8:10573621-10574008	K562	blood:	n/a	n/a
44	POLR2A	chr8:10573443-10574214	HUVEC	blood vessel:	n/a	n/a
45	CCNT2	chr8:10573634-10574186	K562	blood:	n/a	n/a
46	JUND	chr8:10573555-10574049	K562	blood:	n/a	n/a
47	MAX	chr8:10573665-10573978	K562	blood:	n/a	n/a
48	CEBPD	chr8:10573673-10574053	K562	blood:	n/a	n/a
49	TEAD4	chr8:10573671-10573989	K562	blood:	n/a	n/a
50	RAD21	chr8:10573664-10573921	K562	blood:	n/a	chr8:10573674-10573688

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10572945..10574994-chr8:10579706..10582412,2	K562	blood:
2	chr8:10573494..10575019-chr8:10578805..10581206,2	K562	blood:
3	chr8:10568215..10570516-chr8:10570791..10574753,3	K562	blood:

No data

Variant related genes	Relation type
RP1L1	TF binding region
ENSG00000183638	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10090558	0.94[ASN][1000 genomes]
rs10094968	0.87[ASN][1000 genomes]
rs10097577	0.87[ASN][1000 genomes]
rs10098956	0.93[ASN][1000 genomes]
rs10099100	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10103202	0.94[ASN][1000 genomes]
rs10107820	0.87[ASN][1000 genomes]
rs10110723	0.88[ASN][1000 genomes]
rs1139066	0.88[ASN][1000 genomes]
rs1139843	0.88[ASN][1000 genomes]
rs11784335	0.88[ASN][1000 genomes]
rs11990311	0.87[ASN][1000 genomes]
rs12680711	0.87[ASN][1000 genomes]
rs28488675	0.81[ASN][1000 genomes]
rs28548758	0.94[ASN][1000 genomes]
rs58772184	0.88[ASN][1000 genomes]
rs59276210	0.93[ASN][1000 genomes]
rs60270701	1.00[ASN][1000 genomes]
rs60410697	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60672851	0.93[ASN][1000 genomes]
rs60837490	0.94[ASN][1000 genomes]
rs6601505	0.93[ASN][1000 genomes]
rs6601507	0.93[ASN][1000 genomes]
rs6601508	0.93[ASN][1000 genomes]
rs7002378	0.80[ASN][1000 genomes]
rs7003456	0.80[ASN][1000 genomes]
rs7006325	0.87[ASN][1000 genomes]
rs73530796	0.87[ASN][1000 genomes]
rs73532605	0.87[ASN][1000 genomes]
rs73532619	0.93[ASN][1000 genomes]
rs73532620	0.93[ASN][1000 genomes]
rs73532622	0.93[ASN][1000 genomes]
rs73536579	1.00[ASN][1000 genomes]
rs73541440	0.80[ASN][1000 genomes]
rs73541442	0.80[ASN][1000 genomes]
rs73541445	0.80[ASN][1000 genomes]
rs73541496	0.81[ASN][1000 genomes]
rs7822666	1.00[ASN][1000 genomes]
rs7828426	0.87[ASN][1000 genomes]
rs7844805	0.92[EUR][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	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	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
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	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
11	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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10570200-10575000	Enhancers	Duodenum Mucosa	Duodenum
2	chr8:10570800-10575800	Enhancers	Lung	lung
3	chr8:10571200-10574200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:10571800-10574000	Enhancers	Spleen	Spleen
5	chr8:10572000-10583000	Weak transcription	Liver	Liver
6	chr8:10572200-10575400	Enhancers	HUVEC	blood vessel
7	chr8:10572400-10574200	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr8:10572600-10574200	Enhancers	NHEK	skin
9	chr8:10572600-10574400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:10572800-10574200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr8:10572800-10574400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:10572800-10574800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:10572800-10575600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:10573000-10574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:10573000-10574400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:10573000-10574400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:10573000-10574400	Enhancers	Esophagus	oesophagus
18	chr8:10573200-10573800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr8:10573200-10574200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:10573200-10574200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:10573200-10574200	Flanking Active TSS	Hela-S3	cervix
22	chr8:10573200-10574600	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr8:10573200-10574800	Enhancers	K562	blood
24	chr8:10573200-10575600	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:10573400-10573800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:10573400-10574000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:10573400-10574200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:10573400-10574200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr8:10573400-10574400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr8:10573400-10574600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:10573400-10574600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:10573400-10574800	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:10573400-10575200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:10573600-10573800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr8:10573600-10574000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:10573600-10574000	Strong transcription	Right Atrium	heart
37	chr8:10573600-10574000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr8:10573600-10574200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:10573600-10574600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr8:10573600-10575000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr8:10573600-10575600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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