Variant report

Variant	rs58692715
Chromosome Location	chr16:31518792-31518793
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	POLR2A	chr16:31518169-31520242	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31518708-31519019	K562	blood:	n/a	n/a
3	MAZ	chr16:31518362-31520650	IMR90	lung:	n/a	n/a
4	POLR2A	chr16:31518306-31520426	IMR90	lung:	n/a	n/a
5	CEBPB	chr16:31518661-31518920	H1-hESC	embryonic stem cell:	n/a	chr16:31518783-31518794 chr16:31518782-31518795
6	HEY1	chr16:31518655-31520087	K562	blood:	n/a	chr16:31519714-31519729 chr16:31519851-31519866 chr16:31519875-31519890
7	POLR2A	chr16:31518680-31520510	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr16:31518624-31518968	IMR90	lung:	n/a	chr16:31518783-31518794 chr16:31518782-31518795
9	POLR2A	chr16:31518709-31520180	GM12878	blood:	n/a	n/a
10	POLR2A	chr16:31518770-31518876	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr16:31518611-31518971	K562	blood:	n/a	chr16:31518783-31518794 chr16:31518782-31518795
12	CEBPB	chr16:31518612-31518940	Hela-S3	cervix:	n/a	chr16:31518783-31518794 chr16:31518782-31518795
13	REST	chr16:31518618-31520495	H1-neurons	neurons:	n/a	chr16:31520427-31520447 chr16:31520427-31520447
14	POLR2A	chr16:31518757-31518905	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:31518729-31520523	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:31518762-31519505	K562	blood:	n/a	n/a
17	CEBPB	chr16:31518632-31518964	HepG2	liver:	n/a	chr16:31518783-31518794 chr16:31518782-31518795
18	MXI1	chr16:31518550-31520900	SK-N-SH	brain:	n/a	n/a
19	JUN	chr16:31518186-31520901	K562	blood:	n/a	chr16:31518895-31518903 chr16:31520717-31520729 chr16:31519301-31519310 chr16:31519321-31519331 chr16:31520332-31520341

No.	Distal block	Cell Line	Cell type
1	chr16:31517279..31520874-chr16:31722197..31727504,6	MCF-7	breast:
2	chr16:31494997..31499043-chr16:31517756..31521950,4	K562	blood:
3	chr16:31497480..31508766-chr16:31514543..31521176,19	MCF-7	breast:
4	chr16:31494997..31497772-chr16:31517756..31520591,2	K562	blood:
5	chr16:31482449..31485901-chr16:31517810..31523430,5	MCF-7	breast:
6	chr16:31516310..31522725-chr16:31722480..31728998,9	MCF-7	breast:
7	chr16:30959582..30963121-chr16:31518179..31521498,3	K562	blood:
8	chr11:62606772..62609069-chr16:31518624..31521076,2	MCF-7	breast:
9	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
10	chr16:31468357..31473774-chr16:31516772..31522690,14	K562	blood:
11	chr16:31517850..31520614-chr16:31538452..31541283,3	K562	blood:
12	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
13	chr16:31517989..31521434-chr16:31710261..31713968,8	MCF-7	breast:
14	chr16:31516846..31519269-chr16:31522678..31524630,2	MCF-7	breast:
15	chr16:31518688..31521069-chr16:31884964..31886817,2	MCF-7	breast:
16	chr16:31468899..31473390-chr16:31518411..31522821,12	MCF-7	breast:
17	chr16:31518488..31520792-chr16:31884835..31887460,2	MCF-7	breast:
18	chr1:153948948..153951767-chr16:31518333..31519994,2	MCF-7	breast:
19	chr16:31464355..31466816-chr16:31518466..31521334,2	K562	blood:
20	chr16:31468972..31472729-chr16:31517678..31523478,11	K562	blood:
21	chr16:31518385..31519907-chr9:131936177..131938099,2	MCF-7	breast:
22	chr16:31518205..31521975-chr16:31709546..31713435,8	MCF-7	breast:
23	chr16:31518111..31520799-chr16:31691550..31694170,2	MCF-7	breast:
24	chr16:31483184..31487045-chr16:31517740..31519918,3	K562	blood:

Variant related genes	Relation type
ENSG00000260625	TF binding region
ENSG00000268050	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000140675	Chromatin interaction
ENSG00000185947	Chromatin interaction
ENSG00000197302	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000260631	Chromatin interaction
ENSG00000169877	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000261474	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260740	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74015550	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases
2	nsv833194	chr16:31358179-31528545	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
4	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
5	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
6	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
7	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
8	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
9	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31510000-31519000	Weak transcription	Aorta	Aorta
2	chr16:31511200-31518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:31512200-31518800	Weak transcription	Colonic Mucosa	Colon
4	chr16:31512200-31518800	Weak transcription	Esophagus	oesophagus
5	chr16:31512200-31518800	Weak transcription	Gastric	stomach
6	chr16:31512200-31518800	Weak transcription	Ovary	ovary
7	chr16:31513600-31519000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr16:31513800-31518800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:31514200-31518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:31516400-31518800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr16:31516600-31518800	Enhancers	Primary B cells from cord blood	blood
12	chr16:31517000-31518800	Weak transcription	Lung	lung
13	chr16:31517000-31518800	Enhancers	Spleen	Spleen
14	chr16:31517200-31518800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:31517200-31518800	Enhancers	Pancreas	Pancrea
16	chr16:31517400-31518800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr16:31517800-31518800	Enhancers	Primary B cells from peripheral blood	blood
18	chr16:31517800-31518800	Enhancers	Primary T cells fromperipheralblood	blood
19	chr16:31518000-31518800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:31518000-31518800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:31518000-31518800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:31518000-31518800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr16:31518000-31518800	Enhancers	Left Ventricle	heart
24	chr16:31518000-31518800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr16:31518000-31518800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr16:31518000-31518800	Enhancers	Small Intestine	intestine
27	chr16:31518000-31519600	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr16:31518200-31518800	Enhancers	Thymus	Thymus
29	chr16:31518200-31518800	Flanking Active TSS	GM12878-XiMat	blood
30	chr16:31518200-31519000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:31518200-31519000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr16:31518200-31519000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr16:31518200-31519000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:31518200-31519000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:31518200-31519000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:31518200-31519000	Transcr. at gene 5' and 3'	K562	blood
37	chr16:31518200-31519200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:31518200-31519200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr16:31518200-31519200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:31518200-31519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:31518200-31519200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:31518200-31519200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr16:31518200-31519200	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr16:31518200-31519200	Flanking Active TSS	Right Ventricle	heart
45	chr16:31518200-31519200	Flanking Active TSS	Osteobl	bone
46	chr16:31518200-31519400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:31518200-31519600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
48	chr16:31518200-31520800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr16:31518400-31518800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:31518400-31518800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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