Variant report

Variant	rs4243236
Chromosome Location	chr16:31467444-31467445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr16:31467044-31467459	H1-hESC	embryonic stem cell:	n/a	chr16:31467251-31467260
2	RCOR1	chr16:31467371-31467502	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:31466919-31467446	HCT-116	colon:	n/a	n/a
4	CTCF	chr16:31467300-31467450	HA-sp	spinal cord:	n/a	n/a
5	POLR2A	chr16:31466741-31467498	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:31466163-31467677	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:31466428-31467610	K562	blood:	n/a	n/a
8	POLR2A	chr16:31466145-31467624	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr16:31466324-31467521	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:31466681-31467627	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:31466774-31467454	K562	blood:	n/a	n/a
12	POLR2A	chr16:31466472-31467498	GM12878	blood:	n/a	n/a
13	POLR2A	chr16:31466815-31467461	K562	blood:	n/a	n/a
14	POLR2A	chr16:31463995-31468188	HepG2	liver:	n/a	n/a
15	RAD21	chr16:31466941-31467448	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:31466557-31467541	GM12892	blood:	n/a	n/a
17	POLR2A	chr16:31466464-31467472	HepG2	liver:	n/a	n/a
18	POLR2A	chr16:31466760-31467654	HL-60	blood:	n/a	n/a
19	MAX	chr16:31466722-31467570	K562	blood:	n/a	n/a
20	POLR2A	chr16:31467299-31467494	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr16:31466996-31467482	K562	blood:	n/a	n/a
22	POLR2A	chr16:31466812-31467516	IMR90	lung:	n/a	n/a
23	POLR2A	chr16:31466395-31467499	GM12891	blood:	n/a	n/a
24	BACH1	chr16:31467018-31467449	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:31465994-31467675	SK-N-MC	brain:	n/a	n/a
26	CTCF	chr16:31467320-31467470	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:31466287-31467612	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr16:31466873-31467531	HCT-116	colon:	n/a	n/a
29	POLR2A	chr16:31462676-31471558	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr16:31466830-31467484	GM12891	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31465649..31475592-chr16:31481764..31491028,24	MCF-7	breast:
2	chr16:31463366..31472153-chr16:31517209..31524290,14	MCF-7	breast:
3	chr16:31190321..31192190-chr16:31465776..31467625,2	MCF-7	breast:
4	chr16:31467317..31473648-chr16:31720179..31727010,13	MCF-7	breast:
5	chr16:31465139..31468071-chr16:31552229..31554191,2	K562	blood:
6	chr16:31466906..31472700-chr16:31708858..31713293,7	K562	blood:
7	chr16:31203117..31206112-chr16:31465658..31467942,3	K562	blood:
8	chr16:31082772..31088721-chr16:31466605..31471958,8	MCF-7	breast:
9	chr16:31452353..31455604-chr16:31463840..31468906,4	MCF-7	breast:
10	chr16:31466606..31474995-chr16:31481116..31490982,25	MCF-7	breast:
11	chr16:31465181..31467985-chr16:31712716..31714571,2	MCF-7	breast:
12	chr16:31466902..31469355-chr16:31472696..31475037,2	MCF-7	breast:
13	chr16:31467289..31472159-chr16:31708858..31713201,6	K562	blood:
14	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
ENSG00000261474	TF binding region
ARMC5	TF binding region
ENSG00000197302	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000261731	Chromatin interaction
ENSG00000176723	Chromatin interaction
ENSG00000140682	Chromatin interaction
ENSG00000260625	Chromatin interaction
ENSG00000131797	Chromatin interaction
ENSG00000260472	Chromatin interaction
ENSG00000140688	Chromatin interaction
ENSG00000260568	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000167394	Chromatin interaction

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

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

rs_ID	r²[population]
rs4889657	0.83[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	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	chr16:31463000-31467800	Enhancers	Psoas Muscle	Psoas
4	chr16:31463800-31468000	Weak transcription	Primary B cells from cord blood	blood
5	chr16:31463800-31469000	Enhancers	Esophagus	oesophagus
6	chr16:31464000-31468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:31464400-31469200	Enhancers	Pancreas	Pancrea
8	chr16:31464600-31469200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr16:31465200-31469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr16:31465200-31469400	Weak transcription	Aorta	Aorta
11	chr16:31465200-31469600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr16:31465400-31468400	Enhancers	Adipose Nuclei	Adipose
13	chr16:31465400-31469000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:31465400-31469000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr16:31465400-31469000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:31465400-31469000	Enhancers	Osteobl	bone
17	chr16:31465400-31469200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr16:31465400-31469200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:31465400-31469200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:31465800-31468000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:31465800-31469200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr16:31466400-31467600	Flanking Active TSS	Hela-S3	cervix
23	chr16:31466400-31467800	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr16:31466400-31468000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr16:31466400-31468000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr16:31466400-31468000	Genic enhancers	NHEK	skin
27	chr16:31466400-31468200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr16:31466400-31468400	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr16:31466400-31468400	Enhancers	Brain Angular Gyrus	brain
30	chr16:31466400-31468400	Genic enhancers	A549	lung
31	chr16:31466400-31468600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:31466400-31468600	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:31466400-31468600	Genic enhancers	Lung	lung
34	chr16:31466400-31468800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr16:31466400-31468800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:31466400-31468800	Enhancers	Right Atrium	heart
37	chr16:31466400-31469000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:31466400-31469000	Genic enhancers	Fetal Intestine Large	intestine
39	chr16:31466400-31469000	Enhancers	Left Ventricle	heart
40	chr16:31466400-31469200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:31466400-31469200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:31466400-31469200	Enhancers	Brain Cingulate Gyrus	brain
43	chr16:31466400-31469200	Enhancers	Fetal Heart	heart
44	chr16:31466400-31469200	Genic enhancers	Fetal Stomach	stomach
45	chr16:31466400-31469400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr16:31466600-31467600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr16:31466600-31467600	Genic enhancers	HSMM	muscle
48	chr16:31466600-31467800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr16:31466600-31468000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:31466600-31468000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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