Variant report

Variant	rs59310432
Chromosome Location	chr4:165858962-165858963
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:165858840-165858990	HCPEpiC	choroid plexus:	n/a	n/a
2	CTCF	chr4:165858880-165859030	HRE	kidney:	n/a	n/a
3	CTCF	chr4:165858835-165858979	A549	lung:	n/a	n/a
4	CTCF	chr4:165858808-165859012	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:165858820-165858970	HMEC	breast:	n/a	n/a
6	CTCF	chr4:165858836-165859014	Gliobla	brain:	n/a	n/a
7	CTCF	chr4:165858820-165858980	GM19240	blood:	n/a	n/a
8	RAD21	chr4:165858779-165859480	GM12878	blood:	n/a	n/a
9	CTCF	chr4:165858840-165858990	HCFaa	heart:	n/a	n/a
10	CTCF	chr4:165858880-165859030	GM12867	blood:	n/a	n/a
11	ZNF143	chr4:165858810-165859456	GM12878	blood:	n/a	n/a
12	CTCF	chr4:165858820-165858970	GM12868	blood:	n/a	n/a
13	MAFK	chr4:165858725-165859304	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:165858820-165858970	HRE	kidney:	n/a	n/a
15	CTCF	chr4:165858830-165859013	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:165858860-165859010	HMF	breast:	n/a	n/a
17	RAD21	chr4:165858804-165859058	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr4:165858900-165859050	GM12874	blood:	n/a	n/a
19	MAX	chr4:165858846-165859440	GM12878	blood:	n/a	n/a
20	MAZ	chr4:165858846-165859586	GM12878	blood:	n/a	n/a
21	CTCF	chr4:165858807-165859033	GM12892	blood:	n/a	n/a
22	CTCF	chr4:165858820-165858970	AG10803	skin:	n/a	n/a
23	POLR2A	chr4:165858657-165859078	SK-N-MC	brain:	n/a	n/a
24	CTCF	chr4:165858900-165859050	BJ	skin:	n/a	n/a
25	CTCF	chr4:165858828-165858974	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr4:165858860-165859010	HPF	lung:	n/a	n/a
27	CTCF	chr4:165858880-165859030	AG10803	skin:	n/a	n/a
28	CHD2	chr4:165858814-165859380	GM12878	blood:	n/a	n/a
29	CTCF	chr4:165858820-165858970	NHEK	skin:	n/a	n/a
30	CTCF	chr4:165858860-165859010	HEEpiC	esophagus:	n/a	n/a
31	CTCF	chr4:165858840-165858990	GM12871	blood:	n/a	n/a
32	SMC3	chr4:165858935-165859354	K562	blood:	n/a	n/a
33	WRNIP1	chr4:165858753-165860017	GM12878	blood:	n/a	n/a
34	CTCF	chr4:165858810-165859047	Fibrobl	skin:	n/a	n/a
35	CTCF	chr4:165858840-165858990	HMF	breast:	n/a	n/a
36	CTCF	chr4:165858815-165859415	K562	blood:	n/a	n/a
37	CTCF	chr4:165858840-165858990	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr4:165858811-165859025	ProgFib	skin:	n/a	n/a
39	MAFK	chr4:165858819-165859011	IMR90	lung:	n/a	n/a
40	CTCF	chr4:165858834-165859002	GM10266	blood:	n/a	n/a
41	CTCF	chr4:165858900-165859050	BE2_C	brain:	n/a	n/a
42	CTCF	chr4:165858820-165858970	GM12873	blood:	n/a	n/a
43	CTCF	chr4:165858801-165859395	GM19238	blood:	n/a	n/a
44	CTCF	chr4:165858858-165859004	HepG2	liver:	n/a	n/a
45	CTCF	chr4:165858840-165858990	HMEC	breast:	n/a	n/a
46	RAD21	chr4:165858715-165859403	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:165858860-165859010	BJ	skin:	n/a	n/a
48	CTCF	chr4:165858840-165858990	GM12872	blood:	n/a	n/a
49	CTCF	chr4:165858832-165859000	GM12891	blood:	n/a	n/a
50	CTCF	chr4:165858815-165858998	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000270960	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10001924	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10002601	0.80[ASN][1000 genomes]
rs10016502	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10020142	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10020204	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10025595	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11939364	0.84[ASN][1000 genomes]
rs11941364	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12501482	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28544252	0.82[AMR][1000 genomes]
rs4359860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4380479	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4396952	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55724447	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55788652	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848177	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72697944	0.81[AMR][1000 genomes]
rs7663962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461821	chr4:165402309-165859951	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv596037	chr4:165402309-165859951	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1019150	chr4:165505585-165907924	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1026152	chr4:165622244-166027447	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv537336	chr4:165622244-166027447	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv880382	chr4:165793001-165964290	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2757965	chr4:165801816-165976350	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv2759299	chr4:165801816-165976350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv528686	chr4:165814359-165930168	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv967697	chr4:165843736-165889668	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1015970	chr4:165852926-165973078	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv830140	chr4:165855999-165956612	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv822815	chr4:165858272-165862356	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165857400-165859400	Flanking Active TSS	GM12878-XiMat	blood
2	chr4:165857600-165859200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:165857600-165859200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:165857600-165859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:165857600-165859200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:165857800-165859200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:165857800-165859200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:165858000-165859200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:165858600-165859000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:165858600-165859000	Enhancers	Adipose Nuclei	Adipose
11	chr4:165858600-165859200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:165858600-165859200	Enhancers	HSMMtube	muscle
13	chr4:165858600-165859400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:165858800-165859200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:165858800-165859200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:165858800-165859200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:165858800-165859200	Enhancers	Brain Substantia Nigra	brain
18	chr4:165858800-165859200	Enhancers	Fetal Lung	lung
19	chr4:165858800-165859200	Enhancers	Fetal Stomach	stomach

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