Variant report

Variant	rs12374294
Chromosome Location	chr4:10120654-10120655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:10107812-10120993	GM18505	blood:	n/a	n/a
2	POLR2A	chr4:10108957-10121214	K562	blood:	n/a	n/a
3	POLR2A	chr4:10115978-10120867	GM19193	blood:	n/a	n/a
4	POLR2A	chr4:10114876-10120884	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:10118610-10121825	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:10109390-10121827	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:10117317-10121442	HCT-116	colon:	n/a	n/a
8	POLR2A	chr4:10118163-10121307	K562	blood:	n/a	n/a
9	POLR2A	chr4:10116493-10121559	IMR90	lung:	n/a	n/a
10	POLR2A	chr4:10118621-10121990	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBL1XR1	chr4:10118301-10120889	K562	blood:	n/a	n/a
12	POLR2A	chr4:10117065-10120763	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:10109340-10121264	GM12891	blood:	n/a	n/a
14	POLR2A	chr4:10118184-10121164	K562	blood:	n/a	n/a
15	POLR2A	chr4:10120529-10120964	PANC-1	pancreas:	n/a	n/a
16	HEY1	chr4:10118612-10121028	K562	blood:	n/a	n/a
17	BCLAF1	chr4:10120043-10121405	K562	blood:	n/a	chr4:10121177-10121185 chr4:10121271-10121280
18	POLR2A	chr4:10106170-10121623	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:10075125-10121566	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:10107879-10124513	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:10118615-10121613	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:10109976-10121134	MCF10A-Er-Src	breast:	n/a	n/a
23	ZNF274	chr4:10119740-10120957	K562	blood:	n/a	n/a
24	BCLAF1	chr4:10120451-10121341	K562	blood:	n/a	chr4:10121177-10121185 chr4:10121271-10121280
25	POLR2A	chr4:10118194-10120678	U87	brain:	n/a	n/a
26	POLR2A	chr4:10119704-10121090	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr4:10120510-10120917	K562	blood:	n/a	n/a
28	POLR2A	chr4:10118076-10121716	K562	blood:	n/a	n/a
29	HEY1	chr4:10114119-10121936	K562	blood:	n/a	n/a
30	POLR2A	chr4:10118591-10121330	K562	blood:	n/a	n/a
31	POLR2A	chr4:10120538-10120664	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:10118170-10120834	K562	blood:	n/a	n/a
33	POLR2A	chr4:10118605-10121190	GM12892	blood:	n/a	n/a
34	POLR2A	chr4:10120084-10120946	HepG2	liver:	n/a	n/a
35	POLR2A	chr4:10110315-10121811	K562	blood:	n/a	n/a
36	POLR2A	chr4:10117370-10121293	K562	blood:	n/a	n/a
37	POLR2A	chr4:10117330-10120897	K562	blood:	n/a	n/a
38	MAFF	chr4:10120455-10120771	K562	blood:	n/a	n/a
39	POLR2A	chr4:10107720-10122628	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr4:10116858-10120861	PBDE	blood:	n/a	n/a
41	POLR2A	chr4:10117227-10121992	K562	blood:	n/a	n/a
42	POLR2A	chr4:10116289-10121588	K562	blood:	n/a	n/a
43	POLR2A	chr4:10107739-10121372	GM12892	blood:	n/a	n/a

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:10114078..10122203-chr4:10455501..10461954,12	K562	blood:
2	chr4:10079908..10083086-chr4:10118111..10120743,3	MCF-7	breast:
3	chr4:10119738..10123155-chr4:10543992..10547634,3	K562	blood:
4	chr4:10120346..10122071-chr4:10783813..10786571,2	MCF-7	breast:
5	chr4:10119978..10123045-chr4:10320529..10323793,3	K562	blood:
6	chr4:10119529..10122770-chr4:10324822..10328767,4	K562	blood:
7	chr4:10120550..10123104-chr4:10488243..10490755,2	K562	blood:
8	chr4:10119865..10121466-chr4:10268101..10270653,2	K562	blood:
9	chr4:10120460..10123281-chr4:10421587..10423639,2	K562	blood:
10	chr4:10120437..10124442-chr4:10402726..10405362,4	K562	blood:
11	chr4:10119097..10123564-chr4:10520690..10524781,5	K562	blood:
12	chr4:10118162..10120785-chr4:10200742..10203933,4	K562	blood:
13	chr4:10119371..10120949-chr4:10187732..10190413,2	K562	blood:
14	chr4:10019909..10022554-chr4:10120525..10123585,3	K562	blood:
15	chr4:10118696..10122262-chr4:10407294..10411909,5	K562	blood:
16	chr4:10118457..10122021-chr9:33165887..33167387,4	K562	blood:
17	chr4:10117259..10123841-chr4:10401893..10417202,19	K562	blood:
18	chr4:10120616..10123591-chr4:10237653..10240360,2	K562	blood:
19	chr4:10119977..10122163-chr4:10535349..10537578,2	K562	blood:
20	chr4:10119416..10121988-chr4:10218168..10219976,2	K562	blood:
21	chr4:10041255..10044577-chr4:10118999..10121902,3	K562	blood:
22	chr4:10119318..10121113-chr4:10298083..10300540,2	K562	blood:
23	chr21:30397812..30399916-chr4:10119387..10121077,2	K562	blood:
24	chr4:10120346..10122319-chr4:10312436..10314039,2	K562	blood:
25	chr4:10119817..10122040-chr4:10243013..10245878,2	K562	blood:
26	chr4:10117656..10120785-chr4:10200069..10203011,5	K562	blood:
27	chr4:10120325..10123218-chr4:10371729..10374334,2	K562	blood:
28	chr4:10119129..10122077-chr4:10500850..10502742,2	K562	blood:
29	chr4:10120021..10122735-chr4:10225048..10229120,3	K562	blood:
30	chr4:10117460..10124392-chr4:10456675..10465032,17	K562	blood:
31	chr4:10118597..10121491-chr4:10308024..10311461,4	K562	blood:
32	chr4:10109894..10126876-chr4:10164648..10190106,79	K562	blood:
33	chr4:10119416..10121932-chr4:10294541..10296176,2	K562	blood:
34	chr4:10119485..10122055-chr4:10473675..10475984,2	K562	blood:
35	chr4:10119865..10121996-chr4:10269153..10271015,2	K562	blood:
36	chr4:10020863..10022960-chr4:10119382..10122671,3	K562	blood:
37	chr4:10096967..10099240-chr4:10119683..10122219,2	MCF-7	breast:
38	chr4:10119630..10121541-chr4:10538034..10541032,2	K562	blood:
39	chr4:10119817..10121406-chr4:10243789..10245878,2	K562	blood:
40	chr4:10117300..10124855-chr4:10138380..10145377,13	MCF-7	breast:
41	chr4:10120013..10122131-chr4:10436249..10439756,3	K562	blood:
42	chr4:10116325..10123199-chr4:10169149..10177855,21	K562	blood:

No data

Variant related genes	Relation type
RNA5SP155	TF binding region
WDR1	TF binding region
ENSG00000071127	Chromatin interaction
ENSG00000250613	Chromatin interaction
ENSG00000251296	Chromatin interaction
ENSG00000264931	Chromatin interaction
ENSG00000248777	Chromatin interaction
ENSG00000233554	Chromatin interaction
ENSG00000250074	Chromatin interaction
ENSG00000178163	Chromatin interaction
ENSG00000271544	Chromatin interaction
ENSG00000086062	Chromatin interaction
ENSG00000109667	Chromatin interaction
ENSG00000250393	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10516201	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076017	0.89[ASN][1000 genomes]
rs12374229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12498152	0.84[AMR][1000 genomes]
rs12498256	0.84[AMR][1000 genomes]
rs12499772	0.83[AMR][1000 genomes]
rs12499782	0.81[AMR][1000 genomes]
rs12501336	0.86[AMR][1000 genomes]
rs12501597	0.96[ASN][1000 genomes]
rs12501855	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12502556	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12504600	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12506893	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507586	0.81[AMR][1000 genomes]
rs12507725	0.83[AMR][1000 genomes]
rs12508413	0.81[AMR][1000 genomes]
rs12513376	0.84[AMR][1000 genomes]
rs17198113	0.86[ASN][1000 genomes]
rs17450260	0.80[ASN][1000 genomes]
rs17450372	0.80[ASN][1000 genomes]
rs2241467	0.84[AMR][1000 genomes]
rs2241468	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241472	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2241473	0.82[AMR][1000 genomes]
rs2241488	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35758343	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756215	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756227	0.84[AMR][1000 genomes]
rs3756230	0.83[EUR][1000 genomes]
rs3796818	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796825	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3796826	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3822246	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3886038	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41268389	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4456954	0.97[ASN][1000 genomes]
rs4619888	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55683032	0.84[AMR][1000 genomes]
rs55692720	0.84[AMR][1000 genomes]
rs55848383	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55973727	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56146302	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56154234	0.96[ASN][1000 genomes]
rs56393964	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403947	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61335146	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62286600	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62286604	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62287521	0.86[AMR][1000 genomes]
rs62287522	0.83[AMR][1000 genomes]
rs62287523	0.81[AMR][1000 genomes]
rs62287538	0.81[AMR][1000 genomes]
rs62287552	0.86[AMR][1000 genomes]
rs62288520	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62288521	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62288546	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6449289	0.96[ASN][1000 genomes]
rs6813334	0.81[AMR][1000 genomes]
rs6825888	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827496	0.83[AMR][1000 genomes]
rs715260	1.00[ASN][1000 genomes]
rs715979	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212808	0.81[AMR][1000 genomes]
rs73212817	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73212828	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73212853	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73212863	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73212864	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73212886	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73212889	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73212890	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73212891	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73212899	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73216820	0.84[AMR][1000 genomes]
rs73218753	0.81[AMR][1000 genomes]
rs73218771	0.83[AMR][1000 genomes]
rs735527	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7662229	0.93[ASN][1000 genomes]
rs7667775	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7681250	0.90[ASN][1000 genomes]
rs881641	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs881642	0.89[ASN][1000 genomes]
rs9732	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9926	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
2	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	nsv1014216	chr4:9713612-10223836	Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
4	nsv878681	chr4:9802853-10397327	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
5	nsv997941	chr4:9805223-10493388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
6	nsv1008649	chr4:9805223-10589802	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
7	nsv1000587	chr4:9805223-10610752	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
8	nsv537022	chr4:9805223-10610752	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
9	nsv1003454	chr4:9805223-10710990	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
10	nsv537023	chr4:9805223-10710990	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
11	nsv1004801	chr4:9814720-10674528	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
12	nsv537024	chr4:9814720-10674528	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
13	nsv931483	chr4:9814721-10716463	Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
14	nsv537026	chr4:9903566-10262258	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
15	nsv1009972	chr4:9903566-10710990	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
16	nsv537027	chr4:9903566-10710990	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
17	esv2752052	chr4:9911872-10313111	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
18	nsv1010620	chr4:9937123-10686682	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
19	nsv530280	chr4:9947818-10940041	Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
20	nsv532706	chr4:9948018-10451450	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
21	nsv1013022	chr4:9961220-10230042	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
22	nsv537028	chr4:9961220-10230042	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
23	nsv537029	chr4:9961220-10262258	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
24	nsv878691	chr4:9966477-10418078	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
25	nsv1013487	chr4:9972011-10320963	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
26	nsv829857	chr4:9982514-10155835	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
27	nsv469621	chr4:9987670-10142287	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
28	nsv482719	chr4:9987670-10142287	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
29	nsv1008067	chr4:10004664-10262258	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
30	nsv537030	chr4:10004664-10262258	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
31	nsv869057	chr4:10013411-10875454	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
32	nsv537031	chr4:10040713-10262258	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
33	nsv997936	chr4:10040713-11009045	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
34	nsv428438	chr4:10058226-10273779	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
35	nsv537032	chr4:10069805-10262258	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
36	nsv537033	chr4:10069805-10297561	Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
37	nsv524687	chr4:10080462-10159103	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
38	nsv1003286	chr4:10082156-10230606	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
39	esv16807	chr4:10099819-10234566	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
40	nsv537034	chr4:10103058-10262258	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
41	nsv537035	chr4:10103058-10297561	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12374294	SLC2A9	cis	Artery Tibial	GTEx
rs12374294	WDR1	Cis_1M	lymphoblastoid	RTeQTL
rs12374294	RP11-448G15.3	cis	Artery Tibial	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:10118800-10120800	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr4:10118800-10120800	Flanking Active TSS	Rectal Smooth Muscle	rectum
3	chr4:10119000-10120800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr4:10119200-10121400	Enhancers	Fetal Heart	heart
5	chr4:10119400-10120800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:10119400-10121600	Enhancers	Placenta	Placenta
7	chr4:10119400-10122800	Weak transcription	Liver	Liver
8	chr4:10119400-10124000	Enhancers	Fetal Muscle Leg	muscle
9	chr4:10119400-10124600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:10119400-10124600	Weak transcription	Pancreas	Pancrea
11	chr4:10119400-10126200	Enhancers	Fetal Intestine Large	intestine
12	chr4:10119600-10120800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:10119600-10120800	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:10119600-10121200	Enhancers	Fetal Kidney	kidney
15	chr4:10119600-10121400	Weak transcription	Right Ventricle	heart
16	chr4:10119600-10122600	Enhancers	HepG2	liver
17	chr4:10119600-10124200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:10119600-10124600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:10119600-10124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:10119600-10124600	Weak transcription	HSMM	muscle
21	chr4:10119600-10124800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:10119600-10125400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr4:10119600-10126000	Enhancers	Fetal Stomach	stomach
24	chr4:10119600-10126400	Enhancers	Fetal Intestine Small	intestine
25	chr4:10119800-10120800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:10119800-10120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:10119800-10120800	Enhancers	Dnd41	blood
28	chr4:10119800-10123800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:10119800-10124800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:10119800-10124800	Weak transcription	Right Atrium	heart
31	chr4:10119800-10125000	Weak transcription	Hela-S3	cervix
32	chr4:10120000-10120800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:10120000-10121000	Enhancers	Fetal Lung	lung
34	chr4:10120000-10121200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:10120000-10121200	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:10120000-10123000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:10120000-10124200	Weak transcription	HUVEC	blood vessel
38	chr4:10120000-10124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:10120000-10124800	Weak transcription	Brain Anterior Caudate	brain
40	chr4:10120000-10124800	Weak transcription	Esophagus	oesophagus
41	chr4:10120000-10125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:10120000-10127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:10120200-10120800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:10120200-10120800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr4:10120200-10121200	Enhancers	Primary B cells from cord blood	blood
46	chr4:10120200-10121400	Enhancers	Colon Smooth Muscle	Colon
47	chr4:10120200-10121400	Enhancers	K562	blood
48	chr4:10120200-10121600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:10120200-10121800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr4:10120200-10122000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links