Variant report

Variant	rs74015540
Chromosome Location	chr16:31467040-31467041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31466919-31467446	HCT-116	colon:	n/a	n/a
2	CHD2	chr16:31467001-31467156	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31466741-31467498	HepG2	liver:	n/a	n/a
4	MAFK	chr16:31466766-31467391	K562	blood:	n/a	chr16:31467251-31467260
5	RCOR1	chr16:31466940-31467406	K562	blood:	n/a	n/a
6	MAZ	chr16:31466891-31467368	K562	blood:	n/a	n/a
7	POLR2A	chr16:31466303-31467284	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr16:31466163-31467677	HepG2	liver:	n/a	n/a
9	CTCF	chr16:31467033-31467322	GM12878	blood:	n/a	chr16:31467166-31467184
10	POLR2A	chr16:31466428-31467610	K562	blood:	n/a	n/a
11	CTCF	chr16:31467020-31467170	AG04450	lung:	n/a	n/a
12	POLR2A	chr16:31466145-31467624	PFSK-1	brain:	n/a	n/a
13	CTCF	chr16:31467040-31467190	GM12875	blood:	n/a	chr16:31467166-31467184
14	POLR2A	chr16:31466324-31467521	HepG2	liver:	n/a	n/a
15	CTCF	chr16:31467040-31467190	GM12865	blood:	n/a	chr16:31467166-31467184
16	YY1	chr16:31467015-31467298	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:31466681-31467627	GM12878	blood:	n/a	n/a
18	RFX5	chr16:31467038-31467209	Hela-S3	cervix:	n/a	n/a
19	YY1	chr16:31467025-31467266	K562	blood:	n/a	n/a
20	POLR2A	chr16:31466774-31467454	K562	blood:	n/a	n/a
21	MYC	chr16:31466911-31467240	K562	blood:	n/a	n/a
22	ZNF143	chr16:31467022-31467348	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr16:31467024-31467280	GM12878	blood:	n/a	n/a
24	CTCF	chr16:31466922-31467391	H1-hESC	embryonic stem cell:	n/a	chr16:31467166-31467184
25	POLR2A	chr16:31466303-31467243	PANC-1	pancreas:	n/a	n/a
26	CBX3	chr16:31466978-31467400	K562	blood:	n/a	n/a
27	CTCF	chr16:31467000-31467337	K562	blood:	n/a	chr16:31467166-31467184
28	RAD21	chr16:31467024-31467368	GM12878	blood:	n/a	n/a
29	RAD21	chr16:31466930-31467323	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr16:31466746-31467370	K562	blood:	n/a	n/a
31	MAFF	chr16:31467009-31467376	K562	blood:	n/a	n/a
32	POLR2A	chr16:31466472-31467498	GM12878	blood:	n/a	n/a
33	CTCF	chr16:31466790-31467374	K562	blood:	n/a	chr16:31467166-31467184
34	POLR2A	chr16:31466755-31467335	GM12878	blood:	n/a	n/a
35	CTCF	chr16:31467040-31467190	HA-sp	spinal cord:	n/a	chr16:31467166-31467184
36	POLR2A	chr16:31466862-31467045	Hela-S3	cervix:	n/a	n/a
37	JUN	chr16:31466987-31467311	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr16:31466639-31467242	GM12891	blood:	n/a	n/a
39	POLR2A	chr16:31466815-31467461	K562	blood:	n/a	n/a
40	POLR2A	chr16:31463995-31468188	HepG2	liver:	n/a	n/a
41	RAD21	chr16:31466941-31467448	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr16:31466557-31467541	GM12892	blood:	n/a	n/a
43	CTCF	chr16:31467012-31467280	HepG2	liver:	n/a	chr16:31467166-31467184
44	CTCF	chr16:31467040-31467190	HFF	foreskin:	n/a	chr16:31467166-31467184
45	POLR2A	chr16:31466464-31467472	HepG2	liver:	n/a	n/a
46	CTCF	chr16:31467009-31467309	IMR90	lung:	n/a	chr16:31467166-31467184
47	BHLHE40	chr16:31466989-31467307	K562	blood:	n/a	n/a
48	ZKSCAN1	chr16:31467028-31467085	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr16:31467040-31467190	GM12878	blood:	n/a	chr16:31467166-31467184
50	RAD21	chr16:31467011-31467259	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31224645..31227444-chr16:31465604..31467158,2	MCF-7	breast:
2	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:
3	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
4	chr16:31190321..31192190-chr16:31465776..31467625,2	MCF-7	breast:
5	chr16:31060004..31062838-chr16:31465158..31467286,2	MCF-7	breast:
6	chr16:31465139..31468071-chr16:31552229..31554191,2	K562	blood:
7	chr16:31466906..31472700-chr16:31708858..31713293,7	K562	blood:
8	chr16:31465687..31467241-chr20:52208647..52210719,2	MCF-7	breast:
9	chr16:31203117..31206112-chr16:31465658..31467942,3	K562	blood:
10	chr16:31082772..31088721-chr16:31466605..31471958,8	MCF-7	breast:
11	chr16:31452353..31455604-chr16:31463840..31468906,4	MCF-7	breast:
12	chr16:31466606..31474995-chr16:31481116..31490982,25	MCF-7	breast:
13	chr16:31465181..31467985-chr16:31712716..31714571,2	MCF-7	breast:
14	chr16:31466902..31469355-chr16:31472696..31475037,2	MCF-7	breast:
15	chr16:31407031..31409416-chr16:31465348..31468192,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF843-2	chr16:31460668-31470316	NONHSAT141904

No data

Variant related genes	Relation type
ARMC5	TF binding region
ENSG00000261474	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000260472	Chromatin interaction
ENSG00000177238	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000140688	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11863224	1.00[EUR][1000 genomes]
rs13332937	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13333019	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13337777	1.00[EUR][1000 genomes]
rs2230427	1.00[EUR][1000 genomes]
rs28475579	1.00[EUR][1000 genomes]
rs28638273	1.00[EUR][1000 genomes]
rs28735967	1.00[EUR][1000 genomes]
rs56032105	1.00[EUR][1000 genomes]
rs58260800	1.00[EUR][1000 genomes]
rs58585879	1.00[EUR][1000 genomes]
rs59137066	1.00[EUR][1000 genomes]
rs59843953	1.00[EUR][1000 genomes]
rs7184740	1.00[EUR][1000 genomes]
rs7192438	1.00[EUR][1000 genomes]
rs7194219	1.00[EUR][1000 genomes]
rs7197892	1.00[EUR][1000 genomes]
rs74015528	1.00[EUR][1000 genomes]
rs74015530	1.00[EUR][1000 genomes]
rs8052027	1.00[EUR][1000 genomes]
rs9925472	1.00[EUR][1000 genomes]
rs9932709	1.00[EUR][1000 genomes]
rs9939859	1.00[EUR][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	nsv905751	chr16:31431360-31489033	Bivalent Enhancer Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31462600-31469000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:31462800-31469000	Enhancers	NH-A	brain
3	chr16:31463000-31467200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr16:31463000-31467200	Enhancers	Placenta	Placenta
5	chr16:31463000-31467800	Enhancers	Psoas Muscle	Psoas
6	chr16:31463800-31468000	Weak transcription	Primary B cells from cord blood	blood
7	chr16:31463800-31469000	Enhancers	Esophagus	oesophagus
8	chr16:31464000-31467200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:31464000-31468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:31464400-31469200	Enhancers	Pancreas	Pancrea
11	chr16:31464600-31469200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr16:31465000-31467200	Weak transcription	Stomach Mucosa	stomach
13	chr16:31465200-31467200	Weak transcription	Fetal Kidney	kidney
14	chr16:31465200-31469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr16:31465200-31469400	Weak transcription	Aorta	Aorta
16	chr16:31465200-31469600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr16:31465400-31468400	Enhancers	Adipose Nuclei	Adipose
18	chr16:31465400-31469000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:31465400-31469000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:31465400-31469000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:31465400-31469000	Enhancers	Osteobl	bone
22	chr16:31465400-31469200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:31465400-31469200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:31465400-31469200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:31465800-31468000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr16:31465800-31469200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr16:31466400-31467200	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:31466400-31467400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr16:31466400-31467600	Flanking Active TSS	Hela-S3	cervix
30	chr16:31466400-31467800	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr16:31466400-31468000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr16:31466400-31468000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr16:31466400-31468000	Genic enhancers	NHEK	skin
34	chr16:31466400-31468200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:31466400-31468400	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr16:31466400-31468400	Enhancers	Brain Angular Gyrus	brain
37	chr16:31466400-31468400	Genic enhancers	A549	lung
38	chr16:31466400-31468600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:31466400-31468600	Genic enhancers	Brain Inferior Temporal Lobe	brain
40	chr16:31466400-31468600	Genic enhancers	Lung	lung
41	chr16:31466400-31468800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr16:31466400-31468800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr16:31466400-31468800	Enhancers	Right Atrium	heart
44	chr16:31466400-31469000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:31466400-31469000	Genic enhancers	Fetal Intestine Large	intestine
46	chr16:31466400-31469000	Enhancers	Left Ventricle	heart
47	chr16:31466400-31469200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:31466400-31469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:31466400-31469200	Enhancers	Brain Cingulate Gyrus	brain
50	chr16:31466400-31469200	Enhancers	Fetal Heart	heart

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