Variant report

Variant	rs2535405
Chromosome Location	chr12:719681-719682
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	FOS	chr12:719021-719722	MCF10A-Er-Src	breast:	n/a	chr12:719522-719530 chr12:719522-719529 chr12:719522-719530 chr12:719520-719531
2	ATF2	chr12:719326-719876	GM12878	blood:	n/a	n/a
3	CTCF	chr12:719640-719790	GM06990	blood:	n/a	n/a
4	CTCF	chr12:719620-719770	HepG2	liver:	n/a	n/a
5	STAT5A	chr12:719347-719807	GM12878	blood:	n/a	chr12:719590-719597
6	CTCF	chr12:719600-719750	HBMEC	blood vessel:	n/a	n/a
7	MAFK	chr12:719282-719714	HepG2	liver:	n/a	chr12:719307-719317 chr12:719535-719546 chr12:719534-719550
8	CTCF	chr12:719583-719950	GM12878	blood:	n/a	n/a
9	SPI1	chr12:719277-719931	HL-60	blood:	n/a	chr12:719587-719596
10	IKZF1	chr12:719306-719708	GM12878	blood:	n/a	n/a
11	RUNX3	chr12:719340-719971	GM12878	blood:	n/a	n/a
12	CTCF	chr12:719600-719750	GM12864	blood:	n/a	n/a
13	STAT3	chr12:719153-719885	MCF10A-Er-Src	breast:	n/a	chr12:719590-719597
14	CTCF	chr12:719663-719855	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr12:719660-719810	GM06990	blood:	n/a	n/a
16	RUNX3	chr12:719270-719944	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:719354-719730	K562	blood:	n/a	n/a
18	ELF1	chr12:719406-719685	HepG2	liver:	n/a	chr12:719585-719596 chr12:719584-719597
19	CEBPB	chr12:719379-719753	A549	lung:	n/a	n/a
20	PML	chr12:719266-719929	GM12878	blood:	n/a	n/a
21	CTCF	chr12:719620-719770	GM12872	blood:	n/a	n/a
22	CTCF	chr12:719560-719710	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr12:719672-719873	GM12878	blood:	n/a	n/a
24	CTCF	chr12:719661-719865	GM12878	blood:	n/a	n/a
25	POLR2A	chr12:719283-719805	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:719304-719786	MCF10A-Er-Src	breast:	n/a	n/a
27	NR3C1	chr12:719265-719805	A549	lung:	n/a	n/a
28	CTCF	chr12:719639-719837	GM19239	blood:	n/a	n/a
29	CTCF	chr12:719640-719790	GM12873	blood:	n/a	n/a
30	SPI1	chr12:719334-719710	GM12891	blood:	n/a	chr12:719587-719596
31	POLR2A	chr12:719390-719745	U87	brain:	n/a	n/a
32	CTCF	chr12:719649-719801	GM10248	blood:	n/a	n/a
33	CEBPB	chr12:719425-719701	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr12:719348-719699	IMR90	lung:	n/a	chr12:719535-719546 chr12:719534-719550
35	SP1	chr12:719068-719758	A549	lung:	n/a	n/a
36	CTCF	chr12:719600-719750	SK-N-SH_RA	brain:	n/a	n/a
37	CTCF	chr12:719680-719830	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr12:719600-719750	HEK293	kidney:	n/a	n/a
39	MYC	chr12:719318-719716	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr12:719138-719850	A549	lung:	n/a	chr12:719522-719530 chr12:719522-719529 chr12:719522-719530
41	TCF12	chr12:719010-719889	A549	lung:	n/a	chr12:719231-719241
42	RAD21	chr12:719441-719794	Hela-S3	cervix:	n/a	n/a
43	EBF1	chr12:719270-719788	GM12878	blood:	n/a	n/a
44	CTCF	chr12:719540-719690	SAEC	small airway:	n/a	n/a
45	CTCF	chr12:719600-719750	HPAF	blood vessel:	n/a	n/a
46	POLR2A	chr12:719497-719730	Hela-S3	cervix:	n/a	n/a
47	STAT3	chr12:719312-719778	MCF10A-Er-Src	breast:	n/a	chr12:719590-719597
48	MYC	chr12:719422-719711	HUVEC	blood vessel:	n/a	n/a
49	CEBPB	chr12:719372-719740	HepG2	liver:	n/a	n/a
50	CTCF	chr12:719680-719830	GM12868	blood:	n/a	n/a

Variant related genes	Relation type
NINJ2	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11064120	0.82[ASN][1000 genomes]
rs11064121	0.82[ASN][1000 genomes]
rs11064122	0.82[ASN][1000 genomes]
rs11608764	0.82[ASN][1000 genomes]
rs11610339	0.82[ASN][1000 genomes]
rs11612359	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11613701	0.91[ASN][1000 genomes]
rs11614126	0.90[ASN][1000 genomes]
rs11615697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12301300	0.82[ASN][1000 genomes]
rs12303868	0.82[ASN][1000 genomes]
rs12307171	0.82[ASN][1000 genomes]
rs12578245	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2061317	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075032	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2535397	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607918	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607920	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4980839	0.81[ASN][1000 genomes]
rs55779635	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55839256	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56203073	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7979407	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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 target site	80 gene(s)	inside rSNPs	diseases
6	nsv1050781	chr12:321353-783899	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1040849	chr12:321619-771493	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv541322	chr12:321619-771493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1035679	chr12:321619-781558	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1053519	chr12:321619-828175	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	nsv1044433	chr12:321619-1065402	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv541323	chr12:321619-1065402	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
13	esv2759875	chr12:335010-990544	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
14	nsv1045638	chr12:349031-893536	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
15	nsv541325	chr12:349031-893536	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
16	nsv949469	chr12:380411-1122450	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
17	nsv1050226	chr12:441032-743195	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	esv2758290	chr12:457433-990544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv949226	chr12:493900-814882	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	nsv898567	chr12:547683-863517	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv898568	chr12:547683-969800	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	nsv898569	chr12:573870-776471	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv491937	chr12:574727-835424	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv1040579	chr12:575633-761560	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	nsv1049625	chr12:595867-840090	Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	nsv541331	chr12:595867-840090	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
27	nsv1038199	chr12:623813-742216	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
28	nsv541333	chr12:623813-742216	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
29	nsv468951	chr12:624947-783484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
30	nsv470254	chr12:624947-783484	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
31	nsv556885	chr12:624947-783484	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
32	nsv556887	chr12:632240-867504	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
33	nsv1042529	chr12:634019-776371	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
34	nsv556890	chr12:662448-1100555	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
35	nsv1049389	chr12:673428-778337	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
36	nsv541335	chr12:673428-778337	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
37	nsv556892	chr12:673515-1210884	Weak transcription Enhancers Genic enhancers 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 miRNA target site	60 gene(s)	inside rSNPs	diseases
38	nsv1045227	chr12:681554-786238	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
39	nsv1049913	chr12:682848-781558	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
40	nsv1044022	chr12:683606-783899	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
41	nsv898573	chr12:690473-803488	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
42	nsv1040089	chr12:697209-778337	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
43	nsv541337	chr12:697209-778337	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
44	nsv1053080	chr12:706423-781558	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
45	nsv1048965	chr12:706423-803160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
46	nsv898574	chr12:708597-796131	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs2535405	RP11-218M22.1	cis	Adipose Subcutaneous	GTEx
rs2535405	RP11-218M22.1	cis	Thyroid	GTEx
rs2535405	RP11-218M22.1	cis	Esophagus Mucosa	GTEx
rs2535405	RP11-218M22.1	cis	lung	GTEx
rs2535405	RP11-218M22.1	cis	Esophagus Muscularis	GTEx
rs2535405	RP11-218M22.1	cis	Heart Left Ventricle	GTEx
rs2535405	RP11-218M22.1	cis	Artery Aorta	GTEx
rs2535405	RP11-218M22.1	cis	Skin Sun Exposed Lower leg	GTEx
rs2535405	RP11-218M22.1	cis	Nerve Tibial	GTEx
rs2535405	RP11-218M22.1	cis	Whole Blood	GTEx
rs2535405	LOC100049716	Cis_1M	lymphoblastoid	RTeQTL
rs2535405	RP11-218M22.1	cis	Muscle Skeletal	GTEx
rs2535405	RP11-218M22.1	cis	Artery Tibial	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:715800-719800	Enhancers	Left Ventricle	heart
2	chr12:715800-719800	Enhancers	Right Atrium	heart
3	chr12:716600-719800	Enhancers	Lung	lung
4	chr12:716600-720000	Enhancers	Spleen	Spleen
5	chr12:716600-720400	Enhancers	Liver	Liver
6	chr12:716800-719800	Enhancers	Fetal Muscle Trunk	muscle
7	chr12:717000-723800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:717400-723800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:718000-723200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:718000-723400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:718000-724800	Weak transcription	Fetal Lung	lung
12	chr12:718600-720400	Enhancers	Placenta	Placenta
13	chr12:719000-719800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:719000-719800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:719000-719800	Enhancers	Brain Hippocampus Middle	brain
16	chr12:719000-719800	Enhancers	Duodenum Mucosa	Duodenum
17	chr12:719000-719800	Enhancers	Esophagus	oesophagus
18	chr12:719000-719800	Enhancers	Fetal Heart	heart
19	chr12:719000-719800	Enhancers	Fetal Muscle Leg	muscle
20	chr12:719000-719800	Enhancers	K562	blood
21	chr12:719000-720000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:719000-720000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr12:719000-720000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:719000-720000	Enhancers	NHEK	skin
25	chr12:719000-720000	Enhancers	Osteobl	bone
26	chr12:719000-720200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:719000-720200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:719000-720200	Enhancers	Fetal Thymus	thymus
29	chr12:719000-720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:719000-720400	Enhancers	Primary T cells from cord blood	blood
31	chr12:719000-720400	Enhancers	HUVEC	blood vessel
32	chr12:719000-720800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:719000-720800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:719000-720800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:719000-721600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:719200-719800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:719200-719800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:719200-719800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:719200-719800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:719200-719800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:719200-719800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:719200-719800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:719200-719800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:719200-719800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:719200-719800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:719200-719800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr12:719200-719800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:719200-719800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:719200-719800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:719200-719800	Flanking Active TSS	Adipose Nuclei	Adipose

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