Variant report

Variant	rs8047112
Chromosome Location	chr16:31518206-31518207
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

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	chr16:31518143-31518213	HepG2	liver:	n/a	n/a
3	HEY1	chr16:31518194-31518597	K562	blood:	n/a	n/a
4	POLR2A	chr16:31517947-31518268	K562	blood:	n/a	n/a
5	JUN	chr16:31518186-31520901	K562	blood:	n/a	chr16:31518895-31518903 chr16:31520717-31520729 chr16:31519301-31519310 chr16:31519321-31519331 chr16:31520332-31520341
6	POLR2A	chr16:31518177-31518506	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

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	chr16:31517756..31521127-chr16:31538452..31541350,5	K562	blood:
9	chr16:31492761..31494318-chr16:31516815..31518352,2	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	chr16:31468972..31472729-chr16:31517678..31523478,11	K562	blood:
16	chr16:31518205..31521975-chr16:31709546..31713435,8	MCF-7	breast:
17	chr16:31518111..31520799-chr16:31691550..31694170,2	MCF-7	breast:
18	chr16:31483184..31487045-chr16:31517740..31519918,3	K562	blood:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11866003	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13338939	0.81[AMR][1000 genomes]
rs3116149	0.96[ASN][1000 genomes]
rs3813008	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4296276	0.81[AMR][1000 genomes]
rs4411513	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4889545	0.82[EUR][1000 genomes]
rs56060924	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58729087	0.82[EUR][1000 genomes]
rs59813627	0.81[AMR][1000 genomes]
rs60075107	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62053184	0.81[AMR][1000 genomes]
rs9921597	0.81[AMR][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	chr16:31510200-31518400	Weak transcription	Fetal Kidney	kidney
3	chr16:31511200-31518600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:31511200-31518600	Weak transcription	Fetal Thymus	thymus
5	chr16:31511200-31518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:31511800-31518400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:31512000-31518400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:31512000-31518600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:31512000-31518600	Weak transcription	Fetal Brain Male	brain
10	chr16:31512200-31518400	Weak transcription	Brain Substantia Nigra	brain
11	chr16:31512200-31518400	Weak transcription	Fetal Brain Female	brain
12	chr16:31512200-31518400	Weak transcription	NH-A	brain
13	chr16:31512200-31518800	Weak transcription	Colonic Mucosa	Colon
14	chr16:31512200-31518800	Weak transcription	Esophagus	oesophagus
15	chr16:31512200-31518800	Weak transcription	Gastric	stomach
16	chr16:31512200-31518800	Weak transcription	Ovary	ovary
17	chr16:31513600-31519000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:31513800-31518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr16:31513800-31518400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:31513800-31518800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:31514000-31518400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:31514000-31518400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr16:31514000-31518400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr16:31514000-31518600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:31514200-31518600	Enhancers	Fetal Heart	heart
26	chr16:31514200-31518800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:31514800-31518400	Weak transcription	HSMM	muscle
28	chr16:31515600-31518600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr16:31516400-31518400	Genic enhancers	Fetal Stomach	stomach
30	chr16:31516400-31518400	Weak transcription	Psoas Muscle	Psoas
31	chr16:31516400-31518600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr16:31516400-31518800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr16:31516600-31518800	Enhancers	Primary B cells from cord blood	blood
34	chr16:31516800-31518400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr16:31517000-31518600	Genic enhancers	Fetal Muscle Leg	muscle
36	chr16:31517000-31518800	Weak transcription	Lung	lung
37	chr16:31517000-31518800	Enhancers	Spleen	Spleen
38	chr16:31517200-31518400	Enhancers	Primary hematopoietic stem cells	blood
39	chr16:31517200-31518400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr16:31517200-31518400	Genic enhancers	Stomach Smooth Muscle	stomach
41	chr16:31517200-31518800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:31517200-31518800	Enhancers	Pancreas	Pancrea
43	chr16:31517400-31518400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr16:31517400-31518400	Enhancers	Liver	Liver
45	chr16:31517400-31518600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:31517400-31518600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr16:31517400-31518600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:31517400-31518800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr16:31517800-31518400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr16:31517800-31518400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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