Variant report

Variant	rs7184392
Chromosome Location	chr16:69924552-69924553
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	SPI1	chr16:69924539-69924758	K562	blood:	n/a	chr16:69924648-69924661 chr16:69924650-69924659 chr16:69924649-69924662 chr16:69924649-69924662
2	REST	chr16:69924029-69925135	H1-neurons	neurons:	n/a	n/a
3	YY1	chr16:69924308-69924786	H1-hESC	embryonic stem cell:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
4	POLR2A	chr16:69924286-69924902	H1-neurons	neurons:	n/a	n/a
5	YY1	chr16:69924258-69924687	SK-N-SH_RA	brain:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
6	YY1	chr16:69924354-69924614	K562	blood:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
7	YY1	chr16:69924325-69924709	NT2-D1	testis:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
8	EP300	chr16:69924461-69924821	SK-N-SH_RA	brain:	n/a	chr16:69924650-69924659
9	KAP1	chr16:69924379-69924975	HEK293	kidney:	n/a	n/a
10	YY1	chr16:69924387-69924633	GM12892	blood:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
11	SPI1	chr16:69924479-69924896	HL-60	blood:	n/a	chr16:69924648-69924661 chr16:69924650-69924659 chr16:69924649-69924662 chr16:69924649-69924662
12	EP300	chr16:69924485-69924776	SK-N-SH_RA	brain:	n/a	chr16:69924650-69924659
13	YY1	chr16:69924302-69924668	H1-hESC	embryonic stem cell:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
14	REST	chr16:69924402-69924899	H1-neurons	neurons:	n/a	n/a
15	SPI1	chr16:69924526-69924742	K562	blood:	n/a	chr16:69924648-69924661 chr16:69924650-69924659 chr16:69924649-69924662 chr16:69924649-69924662
16	POLR2A	chr16:69924337-69924927	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr16:69924323-69924897	PFSK-1	brain:	n/a	n/a
18	YY1	chr16:69924241-69924816	SK-N-SH_RA	brain:	n/a	chr16:69924483-69924495 chr16:69924485-69924495 chr16:69924478-69924497 chr16:69924477-69924497
19	ELF1	chr16:69924434-69924811	K562	blood:	n/a	chr16:69924648-69924661 chr16:69924649-69924660 chr16:69924650-69924661

Variant related genes	Relation type
WWP2	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10400955	1.00[EUR][1000 genomes]
rs11510266	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11860910	1.00[EUR][1000 genomes]
rs13333561	1.00[EUR][1000 genomes]
rs13335267	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13335499	1.00[EUR][1000 genomes]
rs13338793	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28522432	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28538568	1.00[EUR][1000 genomes]
rs28611042	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28753861	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28788800	1.00[EUR][1000 genomes]
rs45568735	1.00[EUR][1000 genomes]
rs45608334	1.00[EUR][1000 genomes]
rs56182388	1.00[EUR][1000 genomes]
rs57154889	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58892726	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60137705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60683406	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60949042	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61731358	1.00[EUR][1000 genomes]
rs7185321	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7185659	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7186422	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7188693	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7189022	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7189521	1.00[EUR][1000 genomes]
rs7190665	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7191138	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7193149	1.00[EUR][1000 genomes]
rs7197774	1.00[EUR][1000 genomes]
rs7199881	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7200168	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7200242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029722	1.00[EUR][1000 genomes]
rs74029725	1.00[EUR][1000 genomes]
rs74029732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029733	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74029738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74029748	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8052959	1.00[EUR][1000 genomes]
rs9921205	1.00[EUR][1000 genomes]
rs9925155	1.00[EUR][1000 genomes]
rs9929073	1.00[EUR][1000 genomes]
rs9934685	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9934743	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9934983	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9935008	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9939065	1.00[EUR][1000 genomes]
rs9940805	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69893000-69934800	Weak transcription	Hela-S3	cervix
2	chr16:69900800-69933400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:69901800-69924600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:69902600-69924800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:69904200-69951200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:69907600-69942600	Weak transcription	Small Intestine	intestine
7	chr16:69908200-69943000	Weak transcription	Right Ventricle	heart
8	chr16:69910600-69937400	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr16:69913600-69950400	Weak transcription	A549	lung
11	chr16:69916400-69931600	Strong transcription	Primary B cells from cord blood	blood
12	chr16:69916400-69931600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr16:69917200-69930600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr16:69919800-69932400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr16:69920600-69928000	Strong transcription	Primary T cells from cord blood	blood
16	chr16:69921400-69938800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:69921600-69925000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:69921600-69925800	Strong transcription	HepG2	liver
19	chr16:69921600-69932800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:69921800-69925000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:69921800-69925800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr16:69921800-69925800	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr16:69921800-69926000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr16:69921800-69926000	Strong transcription	Thymus	Thymus
25	chr16:69921800-69926400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr16:69921800-69926600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr16:69922000-69925800	Enhancers	Brain Cingulate Gyrus	brain
28	chr16:69922000-69926000	Enhancers	Brain Substantia Nigra	brain
29	chr16:69922200-69924600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr16:69922600-69925000	Strong transcription	Fetal Thymus	thymus
31	chr16:69923000-69924600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr16:69923200-69924600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:69923200-69938600	Weak transcription	Ovary	ovary
34	chr16:69923400-69924600	Enhancers	HUVEC	blood vessel
35	chr16:69923400-69925800	Enhancers	Brain Angular Gyrus	brain
36	chr16:69923400-69925800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:69923400-69925800	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr16:69923400-69926000	Enhancers	Brain Hippocampus Middle	brain
39	chr16:69923600-69924600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:69923600-69924600	Weak transcription	Gastric	stomach
41	chr16:69923600-69924800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr16:69923600-69925000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr16:69923600-69925000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr16:69923600-69925400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr16:69923600-69925800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:69923600-69926000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:69923600-69926000	Enhancers	Brain Anterior Caudate	brain
48	chr16:69923600-69928600	Weak transcription	Liver	Liver
49	chr16:69923600-69942600	Weak transcription	Pancreas	Pancrea
50	chr16:69923600-69944800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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