Variant report

Variant	rs66684353
Chromosome Location	chr11:77349184-77349185
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:234)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:234 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr11:77348335-77349376	MCF-7	breast:	n/a	n/a
2	TAF1	chr11:77348528-77349221	MCF-7	breast:	n/a	n/a
3	KAP1	chr11:77348628-77349365	U2OS	brain:	n/a	n/a
4	MAZ	chr11:77348372-77349431	IMR90	lung:	n/a	n/a
5	MYBL2	chr11:77348542-77349205	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:77348206-77349452	PFSK-1	brain:	n/a	n/a
7	TAF1	chr11:77348527-77349216	Hela-S3	cervix:	n/a	n/a
8	TAF1	chr11:77348352-77349264	A549	lung:	n/a	n/a
9	SP2	chr11:77348573-77349206	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr11:77348523-77349200	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:77348475-77349235	K562	blood:	n/a	n/a
12	E2F6	chr11:77348311-77349223	A549	lung:	n/a	chr11:77348593-77348602
13	MAX	chr11:77348435-77349222	ECC-1	luminal epithelium:	n/a	n/a
14	E2F6	chr11:77348352-77349203	H1-hESC	embryonic stem cell:	n/a	chr11:77348593-77348602
15	PML	chr11:77348405-77349370	GM12878	blood:	n/a	n/a
16	MAX	chr11:77348319-77349210	HepG2	liver:	n/a	n/a
17	NFATC1	chr11:77348643-77349351	GM12878	blood:	n/a	n/a
18	MAX	chr11:77348317-77349261	HCT-116	colon:	n/a	n/a
19	FOXM1	chr11:77348549-77349206	GM12878	blood:	n/a	n/a
20	GTF2F1	chr11:77348633-77349448	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr11:77348531-77349192	ECC-1	luminal epithelium:	n/a	n/a
22	MAFK	chr11:77348720-77349549	K562	blood:	n/a	n/a
23	POLR2A	chr11:77348379-77349593	K562	blood:	n/a	n/a
24	E2F6	chr11:77348409-77349399	K562	blood:	n/a	chr11:77348593-77348602
25	MAX	chr11:77347713-77349360	A549	lung:	n/a	chr11:77347980-77347990 chr11:77347980-77347990
26	YY1	chr11:77348551-77349251	GM12878	blood:	n/a	n/a
27	USF2	chr11:77348778-77349327	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:77348397-77349335	U87	brain:	n/a	n/a
29	STAT3	chr11:77349120-77349214	MCF10A-Er-Src	breast:	n/a	n/a
30	SREBP1	chr11:77348434-77349701	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:77348326-77349632	HL-60	blood:	n/a	n/a
32	POLR2A	chr11:77348430-77349690	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:77348389-77349658	GM12892	blood:	n/a	n/a
34	BCLAF1	chr11:77348616-77349214	GM12878	blood:	n/a	chr11:77348920-77348929
35	POLR2A	chr11:77348455-77349269	ProgFib	skin:	n/a	n/a
36	POLR2A	chr11:77348585-77349562	HepG2	liver:	n/a	n/a
37	RELA	chr11:77348419-77349285	GM15510	blood:	n/a	n/a
38	POLR2A	chr11:77348509-77349452	GM18951	blood:	n/a	n/a
39	SIN3A	chr11:77347728-77349545	H1-hESC	embryonic stem cell:	n/a	chr11:77347981-77347990
40	GABPA	chr11:77348451-77349263	HL-60	blood:	n/a	n/a
41	CEBPB	chr11:77348552-77349350	GM12878	blood:	n/a	n/a
42	RELA	chr11:77348399-77349252	GM12891	blood:	n/a	chr11:77348416-77348425 chr11:77348416-77348425
43	POLR2A	chr11:77348465-77349199	GM12891	blood:	n/a	n/a
44	POLR2A	chr11:77348499-77349248	GM12878	blood:	n/a	n/a
45	CBX3	chr11:77348598-77349265	K562	blood:	n/a	n/a
46	EP300	chr11:77348550-77349491	K562	blood:	n/a	n/a
47	JUND	chr11:77348615-77349507	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:77348445-77349683	PFSK-1	brain:	n/a	n/a
49	CEBPB	chr11:77348608-77349277	K562	blood:	n/a	n/a
50	POLR2A	chr11:77348409-77349588	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77348896..77352381-chr11:77367150..77369998,3	K562	blood:
2	chr11:77345294..77350451-chr11:77530428..77533693,5	K562	blood:
3	chr11:77348923..77350961-chr11:77374857..77377115,2	K562	blood:
4	chr11:77348896..77351789-chr11:77367150..77369844,2	K562	blood:
5	chr11:77323618..77326962-chr11:77347441..77350809,3	MCF-7	breast:
6	chr11:77334640..77336482-chr11:77348463..77350092,2	MCF-7	breast:
7	chr11:77348598..77349250-chr7:17337834..17338689,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CLNS1A	TF binding region
ENSG00000048649	Chromatin interaction
ENSG00000074201	Chromatin interaction
ENSG00000087884	Chromatin interaction
ENSG00000237773	Chromatin interaction
ENSG00000106546	Chromatin interaction

Extended variants
information (count: 263 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:252)

rs_ID	r²[population]
rs10676933	0.80[EUR][1000 genomes]
rs11237234	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11237271	0.93[EUR][1000 genomes]
rs11237274	0.93[EUR][1000 genomes]
rs11822592	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11823751	0.93[EUR][1000 genomes]
rs11824150	0.93[EUR][1000 genomes]
rs11825573	0.93[EUR][1000 genomes]
rs11827357	0.91[EUR][1000 genomes]
rs11828664	0.89[EUR][1000 genomes]
rs12417215	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12417232	0.93[EUR][1000 genomes]
rs12417488	0.93[EUR][1000 genomes]
rs12417760	0.91[EUR][1000 genomes]
rs12417823	0.93[EUR][1000 genomes]
rs12418152	0.93[EUR][1000 genomes]
rs12418261	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12418476	0.93[EUR][1000 genomes]
rs12418551	0.91[EUR][1000 genomes]
rs12418559	0.93[EUR][1000 genomes]
rs12418734	0.93[EUR][1000 genomes]
rs12418844	0.93[EUR][1000 genomes]
rs12419186	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12419685	0.93[EUR][1000 genomes]
rs12420021	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12420092	0.88[EUR][1000 genomes]
rs12420290	0.91[EUR][1000 genomes]
rs12420401	0.91[EUR][1000 genomes]
rs12421391	0.93[EUR][1000 genomes]
rs12421695	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12421699	0.93[EUR][1000 genomes]
rs12574507	0.91[EUR][1000 genomes]
rs12574660	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12574999	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575014	0.93[EUR][1000 genomes]
rs12575150	0.93[EUR][1000 genomes]
rs12575305	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12575763	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12577552	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12806790	0.90[EUR][1000 genomes]
rs1540179	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1544272	0.93[EUR][1000 genomes]
rs1544273	0.93[EUR][1000 genomes]
rs1544274	0.93[EUR][1000 genomes]
rs17135800	0.93[EUR][1000 genomes]
rs17135807	0.93[EUR][1000 genomes]
rs17135809	0.93[EUR][1000 genomes]
rs17135811	0.93[EUR][1000 genomes]
rs17135905	0.91[EUR][1000 genomes]
rs1892869	0.93[EUR][1000 genomes]
rs1893901	0.93[EUR][1000 genomes]
rs1945751	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1986474	0.93[EUR][1000 genomes]
rs2154973	0.93[EUR][1000 genomes]
rs2154988	0.93[EUR][1000 genomes]
rs2156842	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2186573	0.93[EUR][1000 genomes]
rs2187547	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2276415	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276416	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298820	0.93[EUR][1000 genomes]
rs28421376	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28610388	0.93[EUR][1000 genomes]
rs28730304	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28930682	0.93[EUR][1000 genomes]
rs34446294	0.93[EUR][1000 genomes]
rs35546645	0.88[EUR][1000 genomes]
rs35774637	0.93[EUR][1000 genomes]
rs3781616	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3781617	0.93[EUR][1000 genomes]
rs3819211	0.93[EUR][1000 genomes]
rs3886195	0.91[EUR][1000 genomes]
rs3949117	0.93[EUR][1000 genomes]
rs4269952	0.91[EUR][1000 genomes]
rs4301811	0.85[ASN][1000 genomes]
rs4399350	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4486654	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4491258	0.91[EUR][1000 genomes]
rs4531493	0.93[EUR][1000 genomes]
rs4553396	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4578411	0.91[EUR][1000 genomes]
rs4606503	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4944169	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944170	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944171	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944173	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944175	0.93[EUR][1000 genomes]
rs4944176	0.91[EUR][1000 genomes]
rs4945182	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945183	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4945186	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945187	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4945189	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4945190	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4945191	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945192	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945197	0.93[EUR][1000 genomes]
rs4945202	0.93[EUR][1000 genomes]
rs4945203	0.93[EUR][1000 genomes]
rs4945204	0.93[EUR][1000 genomes]
rs4945205	0.93[EUR][1000 genomes]
rs4945209	0.93[EUR][1000 genomes]
rs4945210	0.93[EUR][1000 genomes]
rs4945211	0.93[EUR][1000 genomes]
rs4945212	0.93[EUR][1000 genomes]
rs4945213	0.93[EUR][1000 genomes]
rs4945214	0.93[EUR][1000 genomes]
rs4945215	0.93[EUR][1000 genomes]
rs4945217	0.88[EUR][1000 genomes]
rs4945218	0.93[EUR][1000 genomes]
rs4945219	0.93[EUR][1000 genomes]
rs55881536	0.93[EUR][1000 genomes]
rs56097222	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56175172	0.91[EUR][1000 genomes]
rs56372481	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56817084	0.93[EUR][1000 genomes]
rs57222975	0.93[EUR][1000 genomes]
rs57332020	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57362996	0.93[EUR][1000 genomes]
rs57588070	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57687790	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57805854	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57935035	0.93[EUR][1000 genomes]
rs58367448	0.93[EUR][1000 genomes]
rs58393579	0.93[EUR][1000 genomes]
rs58395847	0.93[EUR][1000 genomes]
rs58608947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58720932	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58914857	0.93[EUR][1000 genomes]
rs59191974	0.93[EUR][1000 genomes]
rs59404463	0.93[EUR][1000 genomes]
rs59459776	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59520338	0.93[EUR][1000 genomes]
rs59581090	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59765258	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59832115	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59969402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59983642	0.91[EUR][1000 genomes]
rs60132034	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60186049	0.93[EUR][1000 genomes]
rs60842160	0.91[EUR][1000 genomes]
rs60849458	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60929773	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60948958	0.93[EUR][1000 genomes]
rs61201484	0.93[EUR][1000 genomes]
rs61358482	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61361232	0.93[EUR][1000 genomes]
rs61397357	0.93[EUR][1000 genomes]
rs61468764	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61576111	0.93[EUR][1000 genomes]
rs6592736	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592740	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6592742	0.93[EUR][1000 genomes]
rs66472445	0.93[EUR][1000 genomes]
rs66488360	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66504136	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66622455	0.93[EUR][1000 genomes]
rs66658383	0.93[EUR][1000 genomes]
rs66664368	0.91[EUR][1000 genomes]
rs66675536	0.93[EUR][1000 genomes]
rs66681087	0.93[EUR][1000 genomes]
rs66738005	0.93[EUR][1000 genomes]
rs66895426	0.93[EUR][1000 genomes]
rs66924979	0.93[EUR][1000 genomes]
rs66991096	0.93[EUR][1000 genomes]
rs67035387	0.93[EUR][1000 genomes]
rs67062156	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67195676	0.93[EUR][1000 genomes]
rs67200285	0.93[EUR][1000 genomes]
rs67230007	0.93[EUR][1000 genomes]
rs67241586	0.93[EUR][1000 genomes]
rs67291795	0.93[EUR][1000 genomes]
rs67313689	0.93[EUR][1000 genomes]
rs67555375	0.93[EUR][1000 genomes]
rs67606281	0.93[EUR][1000 genomes]
rs67680371	0.93[EUR][1000 genomes]
rs67724005	0.93[EUR][1000 genomes]
rs67736392	0.93[EUR][1000 genomes]
rs67769372	0.93[EUR][1000 genomes]
rs67775318	0.93[EUR][1000 genomes]
rs67807487	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67843465	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67875187	0.93[EUR][1000 genomes]
rs67881763	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68013767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68052959	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs68146267	0.93[EUR][1000 genomes]
rs7104540	0.93[EUR][1000 genomes]
rs7105526	0.93[EUR][1000 genomes]
rs7106113	0.93[EUR][1000 genomes]
rs7106659	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109199	0.93[EUR][1000 genomes]
rs7109398	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7109527	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7109704	0.93[EUR][1000 genomes]
rs7110322	0.91[EUR][1000 genomes]
rs7110844	0.93[EUR][1000 genomes]
rs7113415	0.93[EUR][1000 genomes]
rs7116671	0.93[EUR][1000 genomes]
rs7118516	0.93[EUR][1000 genomes]
rs7119471	0.93[EUR][1000 genomes]
rs7119665	0.88[EUR][1000 genomes]
rs7119934	0.89[EUR][1000 genomes]
rs7120465	0.93[EUR][1000 genomes]
rs7123204	0.93[EUR][1000 genomes]
rs7124030	0.93[EUR][1000 genomes]
rs7124116	0.93[EUR][1000 genomes]
rs7124753	0.93[EUR][1000 genomes]
rs7126909	0.80[EUR][1000 genomes]
rs7127803	0.93[EUR][1000 genomes]
rs7128881	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs713083	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7131169	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131298	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720383	0.93[EUR][1000 genomes]
rs72931818	0.93[EUR][1000 genomes]
rs72931829	0.93[EUR][1000 genomes]
rs72935512	0.91[EUR][1000 genomes]
rs72943487	0.88[EUR][1000 genomes]
rs72943494	0.89[EUR][1000 genomes]
rs72943497	0.89[EUR][1000 genomes]
rs72945524	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72945540	0.82[EUR][1000 genomes]
rs72945566	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72945586	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72947606	0.81[EUR][1000 genomes]
rs72947636	0.87[EUR][1000 genomes]
rs72947653	0.93[EUR][1000 genomes]
rs72949614	0.93[EUR][1000 genomes]
rs72949656	0.93[EUR][1000 genomes]
rs73491984	0.93[EUR][1000 genomes]
rs73495923	0.93[EUR][1000 genomes]
rs7482006	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7925252	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7930066	0.93[EUR][1000 genomes]
rs7930885	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930988	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7931215	0.93[EUR][1000 genomes]
rs7932057	0.93[EUR][1000 genomes]
rs7932111	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932603	0.83[EUR][1000 genomes]
rs7933197	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7936904	0.93[EUR][1000 genomes]
rs7937983	0.93[EUR][1000 genomes]
rs7939623	0.93[EUR][1000 genomes]
rs7941418	0.93[EUR][1000 genomes]
rs7942838	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7947430	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7947859	0.88[EUR][1000 genomes]
rs7950612	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7950631	0.93[EUR][1000 genomes]
rs7951172	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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 target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription 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	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers 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 target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS 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 target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs66684353	RP11-91P24.7	cis	Artery Tibial	GTEx
rs66684353	RP11-91P24.6	cis	Artery Tibial	GTEx
rs66684353	AAMDC	cis	Thyroid	GTEx
rs66684353	RP11-91P24.6	cis	Thyroid	GTEx
rs66684353	AAMDC	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77347000-77349200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:77347200-77349600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:77347200-77349600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:77347400-77349400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:77347400-77349400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:77347400-77349600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr11:77347400-77349600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:77347600-77349200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:77347600-77349200	Active TSS	Colonic Mucosa	Colon
10	chr11:77347600-77349200	Active TSS	Pancreas	Pancrea
11	chr11:77347600-77349200	Active TSS	A549	lung
12	chr11:77347600-77349400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:77347600-77349400	Active TSS	Right Atrium	heart
14	chr11:77347600-77349400	Active TSS	NHLF	lung
15	chr11:77347600-77349600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:77347600-77349600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:77347600-77349600	Active TSS	Fetal Muscle Trunk	muscle
18	chr11:77347800-77349200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:77347800-77349200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:77347800-77349200	Active TSS	Esophagus	oesophagus
21	chr11:77347800-77349200	Active TSS	Fetal Intestine Large	intestine
22	chr11:77347800-77349200	Active TSS	Lung	lung
23	chr11:77347800-77349200	Active TSS	NHDF-Ad	bronchial
24	chr11:77347800-77349200	Active TSS	NHEK	skin
25	chr11:77347800-77349400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:77347800-77349400	Active TSS	Ovary	ovary
27	chr11:77347800-77349600	Active TSS	Psoas Muscle	Psoas
28	chr11:77347800-77349600	Active TSS	HSMM	muscle
29	chr11:77348000-77349200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:77348000-77349200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:77348000-77349200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:77348000-77349200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:77348000-77349200	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:77348000-77349200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:77348000-77349200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr11:77348000-77349200	Active TSS	Fetal Kidney	kidney
37	chr11:77348000-77349200	Active TSS	Fetal Thymus	thymus
38	chr11:77348000-77349200	Active TSS	Gastric	stomach
39	chr11:77348000-77349200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:77348000-77349200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr11:77348000-77349200	Active TSS	Small Intestine	intestine
42	chr11:77348000-77349200	Active TSS	Hela-S3	cervix
43	chr11:77348000-77349200	Active TSS	HSMMtube	muscle
44	chr11:77348000-77349400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:77348000-77349400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:77348000-77349400	Active TSS	Aorta	Aorta
47	chr11:77348000-77349400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:77348000-77349600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:77348000-77349600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:77348000-77349600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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