Variant report

Variant	rs56338246
Chromosome Location	chr19:43324298-43324299
allele	A/C
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	CEBPB	chr19:43324137-43324522	IMR90	lung:	n/a	n/a
2	CHD1	chr19:43324146-43324579	IMR90	lung:	n/a	n/a
3	RCOR1	chr19:43323637-43324623	IMR90	lung:	n/a	n/a
4	MAFK	chr19:43324138-43324609	IMR90	lung:	n/a	n/a
5	FOSL2	chr19:43324216-43324449	A549	lung:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
6	FOS	chr19:43324118-43324530	MCF10A-Er-Src	breast:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
7	POLR2A	chr19:43324099-43324602	SK-N-SH	brain:	n/a	n/a
8	FOS	chr19:43324145-43324632	MCF10A-Er-Src	breast:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
9	TCF12	chr19:43324013-43324611	SK-N-SH	brain:	n/a	n/a
10	CEBPB	chr19:43324277-43324368	A549	lung:	n/a	n/a
11	POLR2A	chr19:43324132-43324473	U87	brain:	n/a	n/a
12	STAT3	chr19:43324166-43324491	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF3	chr19:43324227-43324470	GM12878	blood:	n/a	n/a
14	FOS	chr19:43324151-43324508	MCF10A-Er-Src	breast:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
15	FOS	chr19:43324146-43324509	MCF10A-Er-Src	breast:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
16	FOSL2	chr19:43324195-43324449	SK-N-SH	brain:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
17	STAT3	chr19:43324145-43324757	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr19:43324165-43324462	SK-N-SH	brain:	n/a	chr19:43324348-43324362
19	JUND	chr19:43324207-43324456	SK-N-SH	brain:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
20	TCF12	chr19:43324209-43324466	SK-N-SH	brain:	n/a	n/a
21	JUND	chr19:43324036-43324733	SK-N-SH	brain:	n/a	chr19:43324318-43324327 chr19:43324351-43324360
22	STAT3	chr19:43324164-43324629	MCF10A-Er-Src	breast:	n/a	n/a
23	GATA3	chr19:43324152-43324584	SK-N-SH	brain:	n/a	n/a
24	MYC	chr19:43324215-43324610	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr19:43324132-43324465	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000225877	TF binding region

Extended variants
information (count: 565 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10164400	0.99[ASN][1000 genomes]
rs10402669	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10403207	0.83[EUR][1000 genomes]
rs10403506	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403637	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10405430	0.84[EUR][1000 genomes]
rs10406210	0.80[EUR][1000 genomes]
rs10406979	0.96[ASN][1000 genomes]
rs10408392	0.84[EUR][1000 genomes]
rs10410502	0.93[ASN][1000 genomes]
rs10413259	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10413496	0.83[EUR][1000 genomes]
rs10414577	0.91[ASN][1000 genomes]
rs10414706	0.84[EUR][1000 genomes]
rs10417269	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10417672	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10418772	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10418846	0.92[ASN][1000 genomes]
rs10419277	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10420220	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10421345	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10421663	0.84[EUR][1000 genomes]
rs10421738	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10422802	0.95[ASN][1000 genomes]
rs10423067	0.84[EUR][1000 genomes]
rs10423732	0.81[EUR][1000 genomes]
rs10423757	0.81[EUR][1000 genomes]
rs10425207	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10426642	0.93[ASN][1000 genomes]
rs10426689	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10427103	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1064491	0.83[EUR][1000 genomes]
rs1141653	0.82[EUR][1000 genomes]
rs12104262	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12459171	0.82[EUR][1000 genomes]
rs12459271	0.86[EUR][1000 genomes]
rs12459344	0.84[EUR][1000 genomes]
rs12460710	0.82[EUR][1000 genomes]
rs12460750	0.84[EUR][1000 genomes]
rs12460851	0.84[EUR][1000 genomes]
rs12461039	0.83[EUR][1000 genomes]
rs12462903	0.83[EUR][1000 genomes]
rs12463041	0.84[EUR][1000 genomes]
rs12463071	0.83[EUR][1000 genomes]
rs13344415	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13346001	0.83[EUR][1000 genomes]
rs1966371	0.84[EUR][1000 genomes]
rs1987627	0.84[EUR][1000 genomes]
rs1987696	0.83[EUR][1000 genomes]
rs1987697	0.83[EUR][1000 genomes]
rs1988065	0.84[EUR][1000 genomes]
rs1989986	0.96[ASN][1000 genomes]
rs2074590	0.93[ASN][1000 genomes]
rs2074591	0.83[ASN][1000 genomes]
rs2107457	0.94[ASN][1000 genomes]
rs2107458	0.95[ASN][1000 genomes]
rs2108526	0.84[EUR][1000 genomes]
rs2353125	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2353130	0.92[ASN][1000 genomes]
rs2354271	0.84[EUR][1000 genomes]
rs28374299	0.83[EUR][1000 genomes]
rs28376612	0.89[ASN][1000 genomes]
rs28406280	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28427189	0.82[ASN][1000 genomes]
rs28542917	0.94[ASN][1000 genomes]
rs28579274	0.84[EUR][1000 genomes]
rs28587255	0.90[ASN][1000 genomes]
rs28589310	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28604981	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28740886	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2883096	0.92[ASN][1000 genomes]
rs3199707	0.84[EUR][1000 genomes]
rs3827010	0.83[EUR][1000 genomes]
rs4030938	0.84[ASN][1000 genomes]
rs4263043	0.83[EUR][1000 genomes]
rs4500870	0.93[ASN][1000 genomes]
rs4520942	0.86[EUR][1000 genomes]
rs4633837	0.82[EUR][1000 genomes]
rs55996035	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59774608	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60684259	0.87[ASN][1000 genomes]
rs60815661	0.82[ASN][1000 genomes]
rs62110890	0.84[EUR][1000 genomes]
rs62110892	0.84[EUR][1000 genomes]
rs62110909	0.84[EUR][1000 genomes]
rs62112961	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62112984	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112987	0.87[EUR][1000 genomes]
rs62113060	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62113064	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62113065	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62113067	0.88[EUR][1000 genomes]
rs62113068	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62113069	0.89[EUR][1000 genomes]
rs62113071	0.83[AFR][1000 genomes]
rs7249533	0.90[ASN][1000 genomes]
rs7257158	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259464	0.95[ASN][1000 genomes]
rs7260004	0.96[ASN][1000 genomes]
rs73035282	0.84[EUR][1000 genomes]
rs8102622	0.84[ASN][1000 genomes]
rs8103739	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8104689	0.98[ASN][1000 genomes]
rs8105365	0.86[ASN][1000 genomes]
rs8107497	0.93[ASN][1000 genomes]
rs8108220	0.95[ASN][1000 genomes]
rs8108570	0.91[ASN][1000 genomes]
rs8108714	0.88[ASN][1000 genomes]
rs8111438	0.95[ASN][1000 genomes]
rs8112263	0.95[ASN][1000 genomes]
rs9304612	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9304613	0.92[ASN][1000 genomes]
rs9807814	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9807824	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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
2	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1056270	chr19:43139043-43542819	Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv544007	chr19:43141984-43529861	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1061798	chr19:43141984-43741311	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv544008	chr19:43141984-43741311	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv2754239	chr19:43145417-43559330	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS 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	13 gene(s)	inside rSNPs	diseases
12	esv1845826	chr19:43152829-43454902	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	esv2757697	chr19:43164418-43870887	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS 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	24 gene(s)	inside rSNPs	diseases
14	nsv1055872	chr19:43173614-44075193	Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
15	nsv544009	chr19:43173614-44075193	Enhancers ZNF genes & repeats Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv544010	chr19:43173814-43584478	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv544011	chr19:43173814-43741311	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	esv2751786	chr19:43198035-43685930	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv516973	chr19:43202770-43866823	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv869916	chr19:43203105-43584433	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv869571	chr19:43203105-43802656	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv869565	chr19:43203105-43810421	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv963056	chr19:43203249-43798708	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
24	nsv9730	chr19:43203459-43802656	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
25	esv1812820	chr19:43203937-43803388	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
26	nsv1057113	chr19:43211270-43354440	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	esv1808074	chr19:43214215-43805847	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
28	esv1813803	chr19:43214415-43805651	Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
29	esv2763121	chr19:43215328-43846394	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	nsv833835	chr19:43220207-43423373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv428364	chr19:43220207-43435444	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
32	nsv1056871	chr19:43224550-43361690	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
33	nsv1055747	chr19:43224550-43362640	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
34	nsv1065465	chr19:43224550-43368923	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
35	nsv1055726	chr19:43224550-43370644	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
36	esv1846846	chr19:43225921-43774853	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
37	esv1805299	chr19:43227458-43790318	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
38	nsv1063192	chr19:43228125-43354440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
39	nsv1064932	chr19:43228125-43362640	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
40	nsv1059355	chr19:43228125-43370644	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
41	nsv1060654	chr19:43228125-43451808	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
42	nsv911809	chr19:43233048-43374601	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
43	nsv911810	chr19:43233048-43629573	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
44	esv2760524	chr19:43237611-43805328	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
45	nsv1066275	chr19:43237764-43343479	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
46	nsv1058244	chr19:43237764-43349837	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
47	nsv1064141	chr19:43237764-43354440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
48	nsv1063131	chr19:43237764-43362640	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
49	nsv1055408	chr19:43237764-43377275	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
50	nsv1061598	chr19:43237764-43415712	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43321400-43324800	Weak transcription	HSMM	muscle
2	chr19:43321400-43337400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:43323000-43324400	Enhancers	HMEC	breast
4	chr19:43323000-43325200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:43323000-43325200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:43323000-43325400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:43323000-43326000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:43323000-43326200	Enhancers	NHDF-Ad	bronchial
9	chr19:43323200-43325200	Enhancers	NHLF	lung
10	chr19:43323400-43324400	Enhancers	NHEK	skin
11	chr19:43323400-43325400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:43323600-43325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:43323600-43325400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr19:43323800-43326200	Enhancers	NH-A	brain
15	chr19:43324000-43325400	Enhancers	HSMMtube	muscle
16	chr19:43324200-43324600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:43324200-43324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:43324200-43324800	Weak transcription	Osteobl	bone
19	chr19:43324200-43325600	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links