Variant report

Variant	rs4318717
Chromosome Location	chr4:70044686-70044687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr4:70044510-70044858	K562	blood:	n/a	n/a
2	TEAD4	chr4:70044547-70044965	K562	blood:	n/a	n/a
3	POLR2A	chr4:70044643-70044843	K562	blood:	n/a	n/a
4	FOXA1	chr4:70044462-70044892	HepG2	liver:	n/a	n/a
5	ZMIZ1	chr4:70044599-70044853	K562	blood:	n/a	n/a
6	STAT5A	chr4:70044544-70044907	K562	blood:	n/a	n/a
7	CEBPB	chr4:70044569-70044904	K562	blood:	n/a	n/a
8	EP300	chr4:70044528-70044879	K562	blood:	n/a	n/a
9	GATA1	chr4:70044273-70046215	PBDE	blood:	n/a	n/a
10	GATA1	chr4:70044595-70044866	PBDEFetal	blood:	n/a	n/a
11	TAL1	chr4:70044509-70044962	K562	blood:	n/a	n/a
12	BHLHE40	chr4:70044628-70044869	K562	blood:	n/a	n/a
13	POLR2A	chr4:70044587-70044874	K562	blood:	n/a	n/a
14	POLR2A	chr4:70044593-70044909	K562	blood:	n/a	n/a
15	CEBPB	chr4:70044638-70044861	K562	blood:	n/a	n/a
16	FOSL2	chr4:70044601-70044826	HepG2	liver:	n/a	n/a
17	TBL1XR1	chr4:70044660-70044822	K562	blood:	n/a	n/a
18	TEAD4	chr4:70044527-70044931	K562	blood:	n/a	n/a
19	STAT5A	chr4:70044561-70044871	K562	blood:	n/a	n/a
20	RCOR1	chr4:70044672-70044799	K562	blood:	n/a	n/a
21	MYC	chr4:70044670-70044870	K562	blood:	n/a	n/a
22	GATA1	chr4:70044433-70045067	K562	blood:	n/a	n/a
23	CEBPD	chr4:70044512-70044940	K562	blood:	n/a	n/a
24	RCOR1	chr4:70044614-70044955	K562	blood:	n/a	n/a
25	JUND	chr4:70044600-70044846	K562	blood:	n/a	n/a
26	GATA2	chr4:70044525-70044950	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000196472	TF binding region
ENSG00000250696	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12152625	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs12642754	0.87[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12650413	0.86[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs35839382	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4283741	0.81[YRI][hapmap];0.84[ASN][1000 genomes]
rs4324612	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4326078	0.89[AMR][1000 genomes]
rs4415023	0.82[JPT][hapmap]
rs4478251	0.89[AMR][1000 genomes]
rs4526045	0.80[CEU][hapmap];0.80[AMR][1000 genomes]
rs4593204	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56326415	0.89[AMR][1000 genomes]
rs57075079	0.81[AMR][1000 genomes]
rs57136508	0.87[AMR][1000 genomes]
rs57273257	0.89[AMR][1000 genomes]
rs57324254	0.89[AMR][1000 genomes]
rs57589354	0.87[AMR][1000 genomes]
rs57608321	0.85[AMR][1000 genomes]
rs57718545	0.80[AMR][1000 genomes]
rs57906617	0.83[AMR][1000 genomes]
rs58248267	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58953041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59287693	0.89[AMR][1000 genomes]
rs59381492	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59492959	0.89[AMR][1000 genomes]
rs59781155	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60149852	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60828188	0.89[AMR][1000 genomes]
rs6600906	0.89[AMR][1000 genomes]
rs66464520	0.89[AMR][1000 genomes]
rs66698581	0.89[AMR][1000 genomes]
rs66814768	0.87[AMR][1000 genomes]
rs68147210	0.83[AMR][1000 genomes]
rs6846992	0.89[AMR][1000 genomes]
rs72607810	0.89[AMR][1000 genomes]
rs72607811	0.89[AMR][1000 genomes]
rs72607815	0.83[AMR][1000 genomes]
rs72857304	0.89[AMR][1000 genomes]
rs73826613	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7662857	0.83[AMR][1000 genomes]
rs7676175	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7682742	0.89[AMR][1000 genomes]
rs7682920	0.89[AMR][1000 genomes]
rs7686402	0.89[AMR][1000 genomes]
rs7691466	0.89[AMR][1000 genomes]
rs7696907	0.89[AMR][1000 genomes]
rs9684243	0.87[JPT][hapmap];0.90[YRI][hapmap]
rs9684268	0.81[JPT][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

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	nsv427683	chr4:69929701-70414172	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv999858	chr4:69933262-70676525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1000261	chr4:69954600-70642254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv537134	chr4:69954600-70642254	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv879380	chr4:69961912-70046930	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv879381	chr4:69972086-70046930	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv879382	chr4:69972086-70066719	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv1806087	chr4:69975196-70276308	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv879383	chr4:69995509-70046930	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv879384	chr4:69995509-70066719	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv519544	chr4:70003963-70067851	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv1816376	chr4:70013842-70307274	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
18	esv1843260	chr4:70013842-70307274	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	esv1819486	chr4:70014042-70221602	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	esv1847832	chr4:70014042-70307074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv917288	chr4:70014095-70330464	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv879385	chr4:70017531-70116088	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv879386	chr4:70017531-70182126	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv879387	chr4:70017531-70247163	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	esv19678	chr4:70017895-70294271	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	esv2757065	chr4:70019933-70298721	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
27	nsv10524	chr4:70021469-70294259	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
28	esv1818536	chr4:70022197-70053460	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv13389	chr4:70025762-70049028	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	esv1805046	chr4:70026166-70294615	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	esv1823909	chr4:70026166-70294615	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	esv1851835	chr4:70026166-70294615	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
33	esv1819655	chr4:70026366-70166183	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
34	esv1819109	chr4:70026366-70173809	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
35	esv1832623	chr4:70026366-70230100	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
36	esv1851225	chr4:70026366-70230100	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
37	esv1824130	chr4:70027604-70047937	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
38	esv1843521	chr4:70027604-70262164	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	esv1822229	chr4:70027604-70301297	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
40	nsv471334	chr4:70029241-70181724	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
41	nsv471335	chr4:70029241-70181724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
42	nsv879388	chr4:70031620-70116088	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
43	nsv879389	chr4:70037747-70129929	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
44	nsv879390	chr4:70037747-70171280	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
45	nsv879391	chr4:70037747-70182126	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
46	nsv879392	chr4:70037747-70197011	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
47	nsv879393	chr4:70037747-70212288	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
48	nsv879394	chr4:70037747-70234419	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
49	nsv879395	chr4:70037747-70320166	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
50	nsv980214	chr4:70039464-70084276	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70043600-70044800	Enhancers	Fetal Intestine Small	intestine
2	chr4:70043600-70045600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:70043800-70044800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:70044400-70045000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:70044400-70045400	Enhancers	Stomach Mucosa	stomach
6	chr4:70044600-70045000	Flanking Active TSS	Liver	Liver

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