Variant report

Variant	rs7188433
Chromosome Location	chr16:79804881-79804882
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	RFX5	chr16:79803570-79805472	IMR90	lung:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
2	HA-E2F1	chr16:79804185-79804950	MCF-7	breast:	n/a	chr16:79804587-79804602 chr16:79804591-79804605 chr16:79804656-79804666 chr16:79804457-79804466 chr16:79804816-79804833
3	NFYB	chr16:79804190-79804982	K562	blood:	n/a	chr16:79804631-79804645 chr16:79804628-79804643 chr16:79804631-79804646 chr16:79804631-79804646 chr16:79804597-79804612
4	MXI1	chr16:79803755-79805133	SK-N-SH	brain:	n/a	n/a
5	IRF1	chr16:79804005-79804899	K562	blood:	n/a	chr16:79804465-79804479
6	ZMIZ1	chr16:79803430-79805584	K562	blood:	n/a	n/a
7	JUND	chr16:79804003-79805046	K562	blood:	n/a	chr16:79804470-79804479 chr16:79804635-79804644
8	NFYB	chr16:79804412-79804937	GM12878	blood:	n/a	chr16:79804631-79804645 chr16:79804628-79804643 chr16:79804631-79804646 chr16:79804631-79804646 chr16:79804597-79804612
9	SP1	chr16:79804304-79804986	H1-hESC	embryonic stem cell:	n/a	chr16:79804467-79804479 chr16:79804632-79804653 chr16:79804468-79804477 chr16:79804468-79804477 chr16:79804469-79804478 chr16:79804467-79804479
10	MAX	chr16:79803909-79804981	K562	blood:	n/a	n/a
11	POLR2A	chr16:79803019-79805255	K562	blood:	n/a	n/a
12	EP300	chr16:79802602-79805391	SK-N-SH	brain:	n/a	chr16:79802820-79802834 chr16:79803941-79803955 chr16:79802825-79802839
13	E2F4	chr16:79804360-79804938	MCF10A-Er-Src	breast:	n/a	chr16:79804587-79804602 chr16:79804591-79804605 chr16:79804656-79804666 chr16:79804457-79804466 chr16:79804816-79804833
14	NFYA	chr16:79804237-79805394	K562	blood:	n/a	chr16:79804631-79804645 chr16:79804631-79804646 chr16:79804631-79804646
15	CUX1	chr16:79804659-79805310	K562	blood:	n/a	n/a
16	ZNF143	chr16:79803992-79804914	K562	blood:	n/a	n/a
17	SRF	chr16:79804647-79804935	K562	blood:	n/a	chr16:79804656-79804666
18	UBTF	chr16:79804168-79804937	K562	blood:	n/a	n/a
19	YY1	chr16:79804449-79804916	K562	blood:	n/a	chr16:79804461-79804472 chr16:79804455-79804469
20	HMGN3	chr16:79804031-79804893	K562	blood:	n/a	n/a
21	POLR2A	chr16:79803948-79805011	K562	blood:	n/a	n/a
22	RCOR1	chr16:79803960-79804909	K562	blood:	n/a	n/a
23	MAZ	chr16:79803269-79804943	K562	blood:	n/a	n/a
24	MAX	chr16:79804675-79804913	K562	blood:	n/a	n/a
25	POLR2A	chr16:79803767-79805282	K562	blood:	n/a	n/a
26	EP300	chr16:79804034-79805202	K562	blood:	n/a	n/a
27	HCFC1	chr16:79804071-79805048	K562	blood:	n/a	n/a
28	TBL1XR1	chr16:79804010-79804970	K562	blood:	n/a	n/a
29	REST	chr16:79804637-79804919	K562	blood:	n/a	n/a
30	POLR2A	chr16:79803997-79804958	K562	blood:	n/a	n/a
31	MAX	chr16:79803928-79805047	MCF-7	breast:	n/a	n/a
32	IRF1	chr16:79804240-79805006	K562	blood:	n/a	chr16:79804465-79804479
33	RFX5	chr16:79804085-79805420	HepG2	liver:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
34	BHLHE40	chr16:79803209-79805113	K562	blood:	n/a	n/a
35	HEY1	chr16:79804549-79804892	K562	blood:	n/a	n/a
36	E2F6	chr16:79803965-79804994	K562	blood:	n/a	chr16:79804587-79804602 chr16:79804591-79804605 chr16:79804656-79804666 chr16:79804457-79804466 chr16:79804816-79804833
37	POLR2A	chr16:79803267-79805449	K562	blood:	n/a	n/a
38	MAFF	chr16:79804724-79804900	K562	blood:	n/a	n/a
39	CHD2	chr16:79803937-79804937	K562	blood:	n/a	chr16:79804270-79804279
40	RFX5	chr16:79804115-79805067	GM12878	blood:	n/a	chr16:79804613-79804622 chr16:79804610-79804625 chr16:79804611-79804625
41	CREB1	chr16:79804623-79804951	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAFK	chr16:79804690-79805051	K562	blood:	n/a	n/a
43	MYC	chr16:79803971-79804910	K562	blood:	n/a	n/a
44	POLR2A	chr16:79803977-79804959	K562	blood:	n/a	n/a
45	RCOR1	chr16:79803113-79805441	K562	blood:	n/a	n/a
46	ZNF384	chr16:79803725-79805000	K562	blood:	n/a	n/a
47	MAX	chr16:79803901-79805032	A549	lung:	n/a	n/a
48	CREB1	chr16:79804050-79805047	H1-hESC	embryonic stem cell:	n/a	n/a
49	EP300	chr16:79804742-79804908	K562	blood:	n/a	n/a
50	POLR2A	chr16:79803938-79805051	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:79804837-79804887	HCF	heart:	n/a
2	chr16:79804837-79804887	GM12892	blood:	n/a
3	chr16:79804837-79804887	BE2_C	brain:	n/a
4	chr16:79804837-79804887	IMR90	lung:	fetal
5	chr16:79804837-79804887	PFSK-1	brain:	n/a
6	chr16:79804837-79804887	GM12878	blood:	n/a
7	chr16:79804837-79804887	Hepatocyte	liver:	n/a
8	chr16:79804837-79804887	LNCaP	prostate:	n/a
9	chr16:79804837-79804887	HEEpiC	esophagus:	n/a
10	chr16:79804837-79804887	T-47D	breast:	n/a
11	chr16:79804837-79804887	HRPEpiC	eye:	n/a
12	chr16:79804837-79804887	Hela-S3	cervix:	n/a
13	chr16:79804837-79804887	NH-A	brain:	n/a
14	chr16:79804837-79804887	GM12891	blood:	n/a
15	chr16:79804837-79804887	HMEC	breast:	n/a
16	chr16:79804837-79804887	GM19239	blood:	n/a
17	chr16:79804837-79804887	NHBE	bronchial:	n/a
18	chr16:79804837-79804887	PrEC	prostate:	n/a
19	chr16:79804837-79804887	HIPEpiC	eye:	n/a
20	chr16:79804837-79804887	HPAEpiC	pulmonary alveolar:	n/a
21	chr16:79804837-79804887	HNPCEpiC	eye:	n/a
22	chr16:79804837-79804887	AoSMC	blood vessel:	n/a
23	chr16:79804837-79804887	AG04450	lung:	fetal
24	chr16:79804837-79804887	PANC-1	pancreas:	n/a
25	chr16:79804837-79804887	SK-N-SH_RA	brain:	n/a
26	chr16:79804837-79804887	Caco-2	colon:	n/a
27	chr16:79804837-79804887	HL-60	blood:	n/a
28	chr16:79804837-79804887	RPTEC	kidney:	n/a
29	chr16:79804837-79804887	Jurkat	blood:	n/a
30	chr16:79804837-79804887	HAEpiC	amniotic membrane:	n/a
31	chr16:79804837-79804887	BJ	skin:	n/a
32	chr16:79804837-79804887	HRCEpiC	kidney:	n/a
33	chr16:79804837-79804887	NB4	blood:	n/a
34	chr16:79804837-79804887	MCF10A-Er-Src	breast:	n/a
35	chr16:79804837-79804887	HCT-116	colon:	n/a
36	chr16:79804837-79804887	ProgFib	skin:	n/a
37	chr16:79804837-79804887	SK-N-MC	brain:	n/a
38	chr16:79804837-79804887	CMK	blood:	n/a
39	chr16:79804837-79804887	HepG2	liver:	n/a
40	chr16:79804837-79804887	HCM	heart:	n/a
41	chr16:79804837-79804887	ECC-1	luminal epithelium:	n/a
42	chr16:79804837-79804887	U87	brain:	n/a
43	chr16:79804837-79804887	HRE	kidney:	n/a
44	chr16:79804837-79804887	NHDF-neo	bronchial:	n/a
45	chr16:79804837-79804887	HCPEpiC	choroid plexus:	n/a
46	chr16:79804837-79804887	MCF-7	breast:	n/a
47	chr16:79804837-79804887	ovcar-3	ovarian:	n/a
48	chr16:79804837-79804887	A549	lung:	n/a
49	chr16:79804837-79804887	K562	blood:	n/a
50	chr16:79804837-79804887	SKMC	muscle:	n/a

Variant related genes	Relation type
ENSG00000261390	TF binding region
ENSG00000261390	CpG island

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11860057	0.88[ASN][1000 genomes]
rs12448881	0.82[ASN][1000 genomes]
rs13334268	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16951260	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16951261	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16951264	0.85[EUR][1000 genomes]
rs16951284	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951299	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951301	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951302	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951303	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951310	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951318	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16951320	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28420623	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433357	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28691811	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4243180	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4257219	0.84[EUR][1000 genomes]
rs4316769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4322684	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4327063	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4411509	0.84[EUR][1000 genomes]
rs4474702	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4567731	0.82[ASN][1000 genomes]
rs4632145	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56986701	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59100419	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564699	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564700	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6564701	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66616635	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7190298	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7191995	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7200600	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7202532	0.96[ASN][1000 genomes]
rs72810418	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72810426	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72810440	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73572226	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7499783	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8045678	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8056805	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8057344	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8060038	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8061610	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9673947	0.85[EUR][1000 genomes]
rs9921624	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9923844	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9926635	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7188433	RP11-345M22.1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79801400-79805000	Enhancers	Placenta Amnion	Placenta Amnion
2	chr16:79803600-79805200	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr16:79803600-79805200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:79803800-79805000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:79803800-79805000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:79803800-79805200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:79804000-79805000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:79804000-79805000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr16:79804000-79805000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:79804000-79805000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:79804000-79805000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr16:79804000-79805000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:79804000-79805000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:79804000-79805000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr16:79804000-79805000	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr16:79804000-79805000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr16:79804000-79805000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:79804000-79805000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr16:79804000-79805000	Active TSS	Brain Germinal Matrix	brain
20	chr16:79804000-79805000	Active TSS	Psoas Muscle	Psoas
21	chr16:79804000-79805000	Active TSS	HSMMtube	muscle
22	chr16:79804000-79805200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr16:79804000-79805200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:79804000-79805200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr16:79804000-79805200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr16:79804000-79805200	Active TSS	Aorta	Aorta
27	chr16:79804000-79805200	Active TSS	Ovary	ovary
28	chr16:79804200-79805000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr16:79804200-79805000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:79804200-79805000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:79804200-79805000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:79804200-79805000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:79804200-79805000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:79804200-79805000	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr16:79804200-79805000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr16:79804200-79805000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:79804200-79805000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr16:79804200-79805000	Active TSS	Brain Cingulate Gyrus	brain
39	chr16:79804200-79805000	Active TSS	Brain Hippocampus Middle	brain
40	chr16:79804200-79805000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:79804200-79805000	Active TSS	Duodenum Mucosa	Duodenum
42	chr16:79804200-79805000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr16:79804200-79805000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr16:79804200-79805000	Active TSS	Fetal Stomach	stomach
45	chr16:79804200-79805000	Active TSS	Gastric	stomach
46	chr16:79804200-79805000	Active TSS	Left Ventricle	heart
47	chr16:79804200-79805000	Active TSS	Lung	lung
48	chr16:79804200-79805000	Active TSS	Pancreas	Pancrea
49	chr16:79804200-79805000	Active TSS	Rectal Smooth Muscle	rectum
50	chr16:79804200-79805000	Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links