Variant report

Variant	rs2688590
Chromosome Location	chr3:195442787-195442788
allele	C/T
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	MAZ	chr3:195441372-195443265	K562	blood:	n/a	n/a
2	FOSL2	chr3:195442469-195443346	MCF-7	breast:	n/a	chr3:195443055-195443066 chr3:195443084-195443095 chr3:195442739-195442748
3	FOXA2	chr3:195442734-195443228	A549	lung:	n/a	n/a
4	RCOR1	chr3:195442630-195443491	IMR90	lung:	n/a	n/a
5	CTCF	chr3:195442513-195443092	K562	blood:	n/a	n/a
6	FOS	chr3:195442660-195443277	MCF10A-Er-Src	breast:	n/a	chr3:195442739-195442748
7	USF1	chr3:195442641-195443386	HCT-116	colon:	n/a	n/a
8	RCOR1	chr3:195442063-195443055	K562	blood:	n/a	n/a
9	USF1	chr3:195442763-195443270	A549	lung:	n/a	n/a
10	MAFK	chr3:195441396-195443236	K562	blood:	n/a	n/a
11	JUND	chr3:195442056-195443280	K562	blood:	n/a	chr3:195443056-195443067 chr3:195443085-195443096 chr3:195442739-195442748
12	FOSL2	chr3:195442592-195443389	A549	lung:	n/a	chr3:195443055-195443066 chr3:195443084-195443095 chr3:195442739-195442748
13	FOXA2	chr3:195442711-195443231	A549	lung:	n/a	n/a
14	BHLHE40	chr3:195441431-195443241	A549	lung:	n/a	n/a
15	MAFF	chr3:195442612-195443247	K562	blood:	n/a	n/a
16	TBL1XR1	chr3:195441912-195443106	K562	blood:	n/a	n/a
17	JUND	chr3:195442356-195444164	HCT-116	colon:	n/a	chr3:195443056-195443067 chr3:195443839-195443850 chr3:195443085-195443096 chr3:195443837-195443847 chr3:195442739-195442748 chr3:195443838-195443846
18	ATF1	chr3:195441416-195443202	K562	blood:	n/a	n/a
19	FOXA1	chr3:195442786-195443322	HepG2	liver:	n/a	chr3:195443041-195443056
20	BHLHE40	chr3:195441303-195443271	K562	blood:	n/a	n/a
21	EGR1	chr3:195442426-195443423	HCT-116	colon:	n/a	n/a
22	MAX	chr3:195442347-195442952	K562	blood:	n/a	n/a
23	SP1	chr3:195442731-195443201	A549	lung:	n/a	n/a
24	USF1	chr3:195442770-195443288	A549	lung:	n/a	n/a
25	ZMIZ1	chr3:195441362-195443084	K562	blood:	n/a	n/a
26	FOSL1	chr3:195442743-195443184	K562	blood:	n/a	chr3:195443085-195443096 chr3:195443056-195443067
27	CEBPB	chr3:195442765-195443333	A549	lung:	n/a	chr3:195443033-195443044
28	FOSL1	chr3:195442463-195444220	HCT-116	colon:	n/a	chr3:195443839-195443850 chr3:195443085-195443096 chr3:195443837-195443847 chr3:195443056-195443067 chr3:195442739-195442748 chr3:195443838-195443846
29	CEBPB	chr3:195442508-195443219	A549	lung:	n/a	chr3:195443033-195443044
30	MYC	chr3:195441637-195443173	K562	blood:	n/a	n/a
31	NR2F2	chr3:195442682-195443327	MCF-7	breast:	n/a	n/a
32	EGR1	chr3:195442447-195443322	HCT-116	colon:	n/a	n/a
33	JUN	chr3:195441489-195446363	K562	blood:	n/a	chr3:195443839-195443850 chr3:195443837-195443847 chr3:195442739-195442748 chr3:195443838-195443846 chr3:195442996-195443009
34	FOS	chr3:195441591-195444026	MCF10A-Er-Src	breast:	n/a	chr3:195443839-195443850 chr3:195443837-195443847 chr3:195442739-195442748 chr3:195443838-195443846
35	HCFC1	chr3:195441369-195443321	K562	blood:	n/a	n/a
36	ZNF143	chr3:195441355-195442899	K562	blood:	n/a	n/a
37	CCNT2	chr3:195442225-195443065	K562	blood:	n/a	n/a
38	CUX1	chr3:195441436-195443252	K562	blood:	n/a	n/a
39	RCOR1	chr3:195441514-195443252	K562	blood:	n/a	n/a
40	POLR2A	chr3:195442712-195443248	HCT-116	colon:	n/a	n/a
41	FOSL1	chr3:195442491-195444173	HCT-116	colon:	n/a	chr3:195443839-195443850 chr3:195443085-195443096 chr3:195443837-195443847 chr3:195443056-195443067 chr3:195442739-195442748 chr3:195443838-195443846
42	TBP	chr3:195442732-195443040	K562	blood:	n/a	n/a
43	ZBTB33	chr3:195442740-195443306	HCT-116	colon:	n/a	n/a
44	JUND	chr3:195442693-195443233	A549	lung:	n/a	chr3:195443056-195443067 chr3:195443085-195443096 chr3:195442739-195442748
45	FOS	chr3:195442759-195443256	K562	blood:	n/a	n/a
46	FOSL2	chr3:195442784-195443374	MCF-7	breast:	n/a	chr3:195443055-195443066 chr3:195443084-195443095
47	JUN	chr3:195442239-195443279	K562	blood:	n/a	chr3:195442739-195442748 chr3:195442996-195443009
48	TCF12	chr3:195442261-195443404	A549	lung:	n/a	n/a
49	EP300	chr3:195441441-195443341	K562	blood:	n/a	n/a
50	EP300	chr3:195442678-195443405	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:195442309..195444408-chr3:195445887..195447505,2	K562	blood:
2	chr3:195435007..195437409-chr3:195441309..195443628,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUC4-1	chr3:195441152-195446043	NONHSAT094233
2	lnc-AC069257.9.1-4	chr3:195442311-195444094	NONHSAT094243

Variant related genes	Relation type
MUC20	TF binding region
ENSG00000242086	Chromatin interaction

Extended variants
information (count: 320 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2140357	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs2177335	0.93[JPT][hapmap]
rs712005	0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
2	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	esv1832781	chr3:194902818-195528226	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
4	nsv432508	chr3:194916131-195478861	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 miRNA	59 gene(s)	inside rSNPs	diseases
5	nsv432510	chr3:194935314-195478861	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	59 gene(s)	inside rSNPs	diseases
6	nsv432511	chr3:194986167-195479748	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
7	nsv432512	chr3:195007260-195475989	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' 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
8	nsv878138	chr3:195057001-195477791	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
9	nsv1006229	chr3:195071421-195474751	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
10	esv2754364	chr3:195102703-195553690	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS 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 miRNA	54 gene(s)	inside rSNPs	diseases
11	esv2757028	chr3:195102787-195479748	Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised 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 miRNA	53 gene(s)	inside rSNPs	diseases
12	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
13	nsv432513	chr3:195121072-195478861	Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
14	nsv432514	chr3:195121110-195478861	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
15	nsv432515	chr3:195121110-195528226	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	54 gene(s)	inside rSNPs	diseases
16	esv1845367	chr3:195175217-195486486	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
17	nsv1001387	chr3:195186128-195661538	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
18	esv1808194	chr3:195201080-195619882	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
19	esv1849415	chr3:195201080-195619882	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
20	esv1850702	chr3:195201080-195619882	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
21	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
22	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
23	nsv1007617	chr3:195240812-195474751	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
24	esv2763776	chr3:195240824-195502119	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS 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 miRNA	33 gene(s)	inside rSNPs	diseases
25	nsv1010725	chr3:195249924-195459762	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
26	nsv1005951	chr3:195259289-195474751	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS 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	32 gene(s)	inside rSNPs	diseases
27	nsv432518	chr3:195262521-195475989	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
28	nsv432517	chr3:195262521-195476085	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
29	nsv432516	chr3:195262521-195501938	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
30	nsv915895	chr3:195263824-195457677	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
31	nsv533198	chr3:195263979-195459589	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
32	nsv534205	chr3:195263987-195463502	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
33	nsv1012885	chr3:195268908-195459762	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
34	nsv1009947	chr3:195275383-195464854	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
35	nsv1001683	chr3:195275383-195474751	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
36	nsv1013035	chr3:195276060-195446910	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
37	nsv1009773	chr3:195276060-195456889	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
38	nsv517517	chr3:195279119-195517258	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
39	nsv999355	chr3:195279198-195446585	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
40	nsv1009953	chr3:195279198-195446910	ZNF genes & repeats Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
41	nsv1010428	chr3:195279198-195456036	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
42	nsv1009930	chr3:195279198-195464854	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
43	nsv1004538	chr3:195279198-195474751	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
44	nsv1008908	chr3:195284382-195446910	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
45	nsv1008530	chr3:195284382-195455496	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
46	nsv998929	chr3:195284382-195456036	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
47	nsv1003481	chr3:195284382-195456889	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
48	nsv1010767	chr3:195284382-195460684	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
49	nsv999423	chr3:195284382-195462316	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
50	nsv999259	chr3:195284382-195464854	Enhancers Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2688590	MUC20	cis	multi-tissue	Pritchard

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195392000-195445400	Weak transcription	Fetal Kidney	kidney
2	chr3:195432800-195444800	Weak transcription	Small Intestine	intestine
3	chr3:195433000-195444200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:195433600-195444400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:195434800-195443000	Strong transcription	Fetal Stomach	stomach
6	chr3:195435000-195443000	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr3:195435000-195443000	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:195435200-195443000	Strong transcription	Primary T cells from cord blood	blood
9	chr3:195435200-195443000	Strong transcription	Colon Smooth Muscle	Colon
10	chr3:195435800-195443600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:195435800-195447800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:195436200-195443600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:195436800-195442800	Weak transcription	GM12878-XiMat	blood
14	chr3:195439000-195444200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:195439000-195465200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:195439200-195443400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:195439200-195443800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:195439200-195447400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:195439200-195447800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr3:195440200-195443600	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:195440400-195443600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr3:195440400-195445600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:195440600-195442800	Strong transcription	Colonic Mucosa	Colon
24	chr3:195440800-195443000	Strong transcription	Brain Cingulate Gyrus	brain
25	chr3:195441000-195442800	Strong transcription	Brain Anterior Caudate	brain
26	chr3:195441000-195442800	Strong transcription	Right Ventricle	heart
27	chr3:195441000-195443000	Strong transcription	Brain Hippocampus Middle	brain
28	chr3:195441000-195443200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:195441200-195442800	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr3:195441200-195442800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:195441200-195443000	ZNF genes & repeats	Aorta	Aorta
32	chr3:195441200-195443000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:195441200-195443000	Strong transcription	Left Ventricle	heart
34	chr3:195441200-195443000	Strong transcription	Ovary	ovary
35	chr3:195441200-195443000	Strong transcription	Rectal Smooth Muscle	rectum
36	chr3:195441400-195442800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:195441400-195442800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:195441400-195442800	Strong transcription	Brain Angular Gyrus	brain
39	chr3:195441400-195442800	Strong transcription	Brain Germinal Matrix	brain
40	chr3:195441400-195442800	Strong transcription	Brain Substantia Nigra	brain
41	chr3:195441400-195442800	Strong transcription	Fetal Lung	lung
42	chr3:195441400-195442800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:195441400-195443000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:195441400-195443000	Strong transcription	Liver	Liver
45	chr3:195441400-195443000	Strong transcription	Lung	lung
46	chr3:195441400-195443000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:195441400-195443800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:195441600-195442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:195441600-195443000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:195441600-195443000	Strong transcription	Spleen	Spleen

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