Variant report

Variant	rs7441736
Chromosome Location	chr4:69891169-69891170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:69891040-69891190	HRE	kidney:	n/a	n/a
2	CTCF	chr4:69891160-69891310	A549	lung:	n/a	n/a
3	CTCF	chr4:69891060-69891210	GM12878	blood:	n/a	n/a
4	CTCF	chr4:69890907-69891357	MCF-7	breast:	n/a	n/a
5	RAD21	chr4:69891000-69891330	A549	lung:	n/a	n/a
6	CTCF	chr4:69891100-69891250	GM12871	blood:	n/a	n/a
7	FOXA1	chr4:69891018-69891280	T-47D	breast:	n/a	n/a
8	RAD21	chr4:69890915-69891292	HCT-116	colon:	n/a	n/a
9	RAD21	chr4:69890950-69891335	GM12878	blood:	n/a	n/a
10	RCOR1	chr4:69890936-69891215	HepG2	liver:	n/a	n/a
11	CTCF	chr4:69891102-69891220	GM10266	blood:	n/a	n/a
12	SMC3	chr4:69890970-69891304	GM12878	blood:	n/a	n/a
13	RAD21	chr4:69890815-69891334	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:69891060-69891210	GM12866	blood:	n/a	n/a
15	CTCF	chr4:69891120-69891270	GM12870	blood:	n/a	n/a
16	CTCF	chr4:69891083-69891218	LNCaP	prostate:	n/a	n/a
17	CTCF	chr4:69891100-69891250	WI-38	lung:	n/a	n/a
18	CTCF	chr4:69891009-69891248	HepG2	liver:	n/a	n/a
19	CTCF	chr4:69891069-69891261	A549	lung:	n/a	n/a
20	CTCF	chr4:69891160-69891310	HVMF	connective:	n/a	n/a
21	CTCF	chr4:69891120-69891270	NHEK	skin:	n/a	n/a
22	CTCF	chr4:69891037-69891235	A549	lung:	n/a	n/a
23	RAD21	chr4:69891045-69891200	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr4:69891060-69891210	GM12872	blood:	n/a	n/a
25	CTCF	chr4:69891092-69891236	GM20000	blood:	n/a	n/a
26	CTCF	chr4:69891066-69891229	GM13977	blood:	n/a	n/a
27	ZNF143	chr4:69890996-69891285	GM12878	blood:	n/a	n/a
28	RAD21	chr4:69890986-69891235	GM12878	blood:	n/a	n/a
29	CTCF	chr4:69891040-69891190	HBMEC	blood vessel:	n/a	n/a
30	RAD21	chr4:69890824-69891433	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr4:69891080-69891230	HBMEC	blood vessel:	n/a	n/a
32	RAD21	chr4:69890946-69891216	GM12878	blood:	n/a	n/a
33	CTCF	chr4:69891014-69891305	GM19238	blood:	n/a	n/a
34	CTCF	chr4:69891100-69891250	K562	blood:	n/a	n/a
35	SMC3	chr4:69890903-69891382	HepG2	liver:	n/a	n/a
36	CTCF	chr4:69891020-69891170	HL-60	blood:	n/a	n/a
37	CTCF	chr4:69891040-69891190	GM12872	blood:	n/a	n/a
38	CTCF	chr4:69891100-69891250	HCT-116	colon:	n/a	n/a
39	CTCF	chr4:69891034-69891252	IMR90	lung:	n/a	n/a
40	CTCF	chr4:69891056-69891235	K562	blood:	n/a	n/a
41	ZNF143	chr4:69890975-69891281	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr4:69891040-69891190	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr4:69891120-69891270	GM12865	blood:	n/a	n/a
44	CTCF	chr4:69891060-69891210	HCT-116	colon:	n/a	n/a
45	CTCF	chr4:69891092-69891184	GM10248	blood:	n/a	n/a
46	CTCF	chr4:69891140-69891290	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr4:69891060-69891210	SAEC	small airway:	n/a	n/a
48	CTCF	chr4:69891060-69891210	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr4:69891080-69891230	RPTEC	kidney:	n/a	n/a
50	CTCF	chr4:69891060-69891210	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249890	TF binding region
ENSG00000250919	TF binding region

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10006595	0.92[EUR][1000 genomes]
rs10012215	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10012240	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10012607	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10019619	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10021748	0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs10030220	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249520	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11725519	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12501837	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12509175	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12512098	0.90[EUR][1000 genomes]
rs12646327	0.80[CHB][hapmap]
rs12648808	0.87[ASN][1000 genomes]
rs12648830	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs13102620	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13108709	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13116752	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13127081	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13128177	0.85[EUR][1000 genomes]
rs13140844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13145165	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13145304	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13147569	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13147648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1841055	0.91[EUR][1000 genomes]
rs1902923	0.85[EUR][1000 genomes]
rs1902929	0.85[CHB][hapmap]
rs2011000	0.82[EUR][1000 genomes]
rs2292524	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2331627	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28386872	0.95[EUR][1000 genomes]
rs28775401	0.92[ASN][1000 genomes]
rs28801471	0.94[ASN][1000 genomes]
rs3922514	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs4235106	0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4235108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4235112	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4235113	0.91[ASN][1000 genomes]
rs4235114	0.96[ASN][1000 genomes]
rs4299665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4299666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4304032	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4305590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312824	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4351079	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4353969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4365792	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4377650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4400060	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4400061	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4410590	0.87[ASN][1000 genomes]
rs4412058	0.87[ASN][1000 genomes]
rs4413468	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs4422474	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4440295	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4446390	0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4481286	0.96[ASN][1000 genomes]
rs4495114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4516791	0.87[ASN][1000 genomes]
rs4518318	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4576082	0.84[CHB][hapmap]
rs4583828	0.96[ASN][1000 genomes]
rs4591680	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4600986	0.86[CHB][hapmap]
rs4607293	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4611997	0.86[ASN][1000 genomes]
rs4618380	0.86[ASN][1000 genomes]
rs4694159	0.87[ASN][1000 genomes]
rs4694160	0.87[ASN][1000 genomes]
rs4694490	0.89[EUR][1000 genomes]
rs4694491	0.90[EUR][1000 genomes]
rs4694551	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4694588	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4694597	0.87[ASN][1000 genomes]
rs4694599	0.87[ASN][1000 genomes]
rs4694602	0.87[ASN][1000 genomes]
rs4694604	0.87[ASN][1000 genomes]
rs4694605	0.87[ASN][1000 genomes]
rs4694607	0.87[ASN][1000 genomes]
rs4694610	0.91[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4694611	0.87[ASN][1000 genomes]
rs4694612	0.84[ASN][1000 genomes]
rs55778959	0.80[ASN][1000 genomes]
rs56879009	0.87[ASN][1000 genomes]
rs57386454	0.96[ASN][1000 genomes]
rs58496756	0.85[ASN][1000 genomes]
rs60212682	0.96[ASN][1000 genomes]
rs60814050	0.93[ASN][1000 genomes]
rs61612343	0.87[ASN][1000 genomes]
rs6422321	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6422322	0.95[ASN][1000 genomes]
rs6600865	0.92[ASN][1000 genomes]
rs6600867	0.87[ASN][1000 genomes]
rs6820734	0.80[CHB][hapmap]
rs6827511	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828317	0.90[EUR][1000 genomes]
rs6831147	0.84[EUR][1000 genomes]
rs6837000	0.85[EUR][1000 genomes]
rs6839405	0.85[EUR][1000 genomes]
rs6843788	0.90[EUR][1000 genomes]
rs6850053	0.96[ASN][1000 genomes]
rs72851338	0.90[ASN][1000 genomes]
rs72851348	0.96[ASN][1000 genomes]
rs72852416	0.87[ASN][1000 genomes]
rs72852450	0.87[ASN][1000 genomes]
rs7434389	0.87[ASN][1000 genomes]
rs7435274	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7436912	0.87[ASN][1000 genomes]
rs7438033	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs7438808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7439419	0.86[ASN][1000 genomes]
rs7441365	0.86[ASN][1000 genomes]
rs7442394	0.87[ASN][1000 genomes]
rs7442486	0.90[CHB][hapmap]
rs7654272	0.87[ASN][1000 genomes]
rs7657426	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7658748	0.87[ASN][1000 genomes]
rs7660019	0.82[ASN][1000 genomes]
rs7660021	0.81[ASN][1000 genomes]
rs7662632	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7666894	0.87[ASN][1000 genomes]
rs7673174	0.88[EUR][1000 genomes]
rs7674573	0.87[ASN][1000 genomes]
rs7674600	0.87[ASN][1000 genomes]
rs7677996	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7679418	0.87[ASN][1000 genomes]
rs7680156	0.87[ASN][1000 genomes]
rs7687336	0.87[ASN][1000 genomes]
rs7687692	0.81[ASN][1000 genomes]
rs7687725	0.87[ASN][1000 genomes]
rs7691258	0.88[EUR][1000 genomes]
rs7691445	0.88[EUR][1000 genomes]
rs7692377	0.87[ASN][1000 genomes]
rs7693166	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7698430	0.87[ASN][1000 genomes]
rs9715099	0.95[ASN][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	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv2757064	chr4:69863174-69901607	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv980213	chr4:69870183-69893292	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69886200-69893000	Enhancers	HepG2	liver
2	chr4:69887400-69891200	Weak transcription	A549	lung
3	chr4:69889800-69891400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:69889800-69891400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:69889800-69891400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:69890000-69891400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:69890800-69891200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:69890800-69891200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:69890800-69891200	Enhancers	Liver	Liver
10	chr4:69890800-69891200	Enhancers	Fetal Intestine Large	intestine
11	chr4:69890800-69891600	Enhancers	Stomach Mucosa	stomach
12	chr4:69891000-69891400	Enhancers	Pancreas	Pancrea
13	chr4:69891000-69891400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr4:69891000-69891400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr4:69891000-69891600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:69891000-69891600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr4:69891000-69892000	Enhancers	Gastric	stomach

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