Variant report

Variant	rs55979575
Chromosome Location	chr22:30687066-30687067
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	CTCF	chr22:30686920-30687070	HPAF	blood vessel:	n/a	n/a
2	ESR1	chr22:30687009-30687338	T-47D	breast:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
3	FOS	chr22:30686981-30687368	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFK	chr22:30687028-30687355	HepG2	liver:	n/a	chr22:30687185-30687201 chr22:30687183-30687203 chr22:30687186-30687200
5	CTCF	chr22:30686960-30687110	BJ	skin:	n/a	n/a
6	POLR2A	chr22:30685235-30687312	GM12878	blood:	n/a	n/a
7	MAFF	chr22:30687019-30687321	HepG2	liver:	n/a	chr22:30687187-30687205 chr22:30687186-30687200
8	POLR2A	chr22:30686859-30687092	HepG2	liver:	n/a	n/a
9	POLR2A	chr22:30685366-30688017	GM12892	blood:	n/a	n/a
10	POLR2A	chr22:30686220-30687132	GM12878	blood:	n/a	n/a
11	NR3C1	chr22:30686843-30687416	ECC-1	luminal epithelium:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
12	ELF1	chr22:30686753-30687458	MCF-7	breast:	n/a	n/a
13	POLR2A	chr22:30686553-30687170	GM12892	blood:	n/a	n/a
14	POLR2A	chr22:30685344-30687144	GM12878	blood:	n/a	n/a
15	CTCF	chr22:30687060-30687210	HCPEpiC	choroid plexus:	n/a	chr22:30687108-30687121
16	EP300	chr22:30686534-30687461	ECC-1	luminal epithelium:	n/a	n/a
17	NR3C1	chr22:30686848-30687443	ECC-1	luminal epithelium:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
18	POLR2A	chr22:30686909-30687280	K562	blood:	n/a	n/a
19	NR3C1	chr22:30686917-30687400	A549	lung:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
20	ESR1	chr22:30687016-30687455	ECC-1	luminal epithelium:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
21	POLR2A	chr22:30685291-30687284	GM12892	blood:	n/a	n/a
22	POLR2A	chr22:30685327-30687530	GM18505	blood:	n/a	n/a
23	POLR2A	chr22:30686864-30687245	MCF-7	breast:	n/a	n/a
24	ESR1	chr22:30687010-30687374	ECC-1	luminal epithelium:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
25	POLR2A	chr22:30686562-30687373	PFSK-1	brain:	n/a	n/a
26	ELF1	chr22:30685101-30687172	GM12878	blood:	n/a	chr22:30686341-30686352 chr22:30686339-30686352 chr22:30686341-30686352 chr22:30686511-30686523 chr22:30685584-30685593 chr22:30686342-30686351 chr22:30685383-30685396
27	POLR2A	chr22:30685305-30687090	GM15510	blood:	n/a	n/a
28	NR3C1	chr22:30687013-30687403	A549	lung:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
29	POLR2A	chr22:30686322-30687425	HUVEC	blood vessel:	n/a	n/a
30	TCF12	chr22:30686577-30687570	ECC-1	luminal epithelium:	n/a	chr22:30687153-30687161
31	MXI1	chr22:30684871-30687521	SK-N-SH	brain:	n/a	chr22:30685923-30685932
32	ESR1	chr22:30687041-30687327	T-47D	breast:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
33	POLR2A	chr22:30685794-30687323	GM12878	blood:	n/a	n/a
34	STAT3	chr22:30686788-30687369	MCF10A-Er-Src	breast:	n/a	chr22:30686962-30686970 chr22:30687150-30687161 chr22:30686875-30686887
35	TCF12	chr22:30686801-30687517	ECC-1	luminal epithelium:	n/a	chr22:30687153-30687161
36	POLR2A	chr22:30685284-30687235	GM12878	blood:	n/a	n/a
37	STAT3	chr22:30686804-30687369	MCF10A-Er-Src	breast:	n/a	chr22:30686962-30686970 chr22:30687150-30687161 chr22:30686875-30686887
38	NR3C1	chr22:30686974-30687319	A549	lung:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
39	NR2F2	chr22:30686835-30687553	MCF-7	breast:	n/a	n/a
40	NR3C1	chr22:30686882-30687455	A549	lung:	n/a	chr22:30687218-30687232 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687099-30687112 chr22:30687215-30687236 chr22:30687218-30687232 chr22:30687222-30687235 chr22:30687217-30687233 chr22:30687217-30687233 chr22:30687218-30687233
41	ESR1	chr22:30687027-30687433	ECC-1	luminal epithelium:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
42	ESR1	chr22:30686984-30687310	ECC-1	luminal epithelium:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
43	POLR2A	chr22:30687000-30687225	HCT-116	colon:	n/a	n/a
44	POLR2A	chr22:30685223-30687351	GM12892	blood:	n/a	n/a
45	POLR2A	chr22:30686400-30687099	K562	blood:	n/a	n/a
46	STAT3	chr22:30687019-30687283	MCF10A-Er-Src	breast:	n/a	chr22:30687150-30687161
47	POLR2A	chr22:30686951-30687488	HUVEC	blood vessel:	n/a	n/a
48	MAZ	chr22:30687011-30687145	Hela-S3	cervix:	n/a	n/a
49	ESR1	chr22:30687048-30687316	ECC-1	luminal epithelium:	n/a	chr22:30687216-30687233 chr22:30687217-30687232 chr22:30687217-30687234
50	STAT3	chr22:30686793-30687355	MCF10A-Er-Src	breast:	n/a	chr22:30686962-30686970 chr22:30687150-30687161 chr22:30686875-30686887

No.	Distal block	Cell Line	Cell type
1	chr22:30684944..30687538-chr22:30739118..30741799,2	MCF-7	breast:
2	chr22:30640449..30642621-chr22:30686801..30689268,2	MCF-7	breast:
3	chr22:30686791..30687342-chr22:30932110..30932929,2	MCF-7	breast:
4	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
5	chr22:30685629..30687266-chr22:30839148..30841021,2	K562	blood:
6	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
7	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
8	chr22:30686966..30689446-chr22:30691797..30694765,3	K562	blood:
9	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:
10	chr22:30686895..30687732-chr22:30707081..30707981,2	MCF-7	breast:

Variant related genes	Relation type
GATSL3	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000099992	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1002189	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076271	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1076295	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1076296	0.88[ASN][1000 genomes]
rs1076297	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076298	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1076299	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1079227	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705092	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11912350	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11913885	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13053375	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13053595	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13054303	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13055431	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13056253	0.98[ASN][1000 genomes]
rs13056326	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13057340	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13057861	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17656850	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17657174	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17657653	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17657701	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17658238	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17730485	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17730538	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17736937	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1990268	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2229807	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240420	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28360656	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34995457	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35293738	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35537171	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35711436	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35782599	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4390846	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820005	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820006	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820007	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820835	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820836	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820838	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4820839	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4823089	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56300819	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749062	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749063	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749067	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749075	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749076	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749077	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749080	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749081	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5749086	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5749087	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749088	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5753058	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753060	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753061	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753069	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753070	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753073	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753078	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753082	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753095	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753096	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753097	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753101	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753105	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753106	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753110	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753113	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5753127	0.81[AMR][1000 genomes]
rs5763928	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763932	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61322750	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62228968	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7284531	0.98[ASN][1000 genomes]
rs7287175	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7287908	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7288947	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737750	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737751	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs737813	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737948	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740084	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs740220	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs740222	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs740223	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs757868	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8136826	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv522605	chr22:30685076-30691631	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55979575	RNF215	cis	Heart Left Ventricle	GTEx
rs55979575	RP1-130H16.16	cis	lung	GTEx
rs55979575	RP1-130H16.16	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30685800-30687200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr22:30685800-30687200	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr22:30685800-30687400	Enhancers	HSMMtube	muscle
4	chr22:30685800-30687800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr22:30686000-30687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr22:30686000-30687400	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr22:30686000-30687600	Enhancers	Stomach Mucosa	stomach
8	chr22:30686000-30688200	Enhancers	Fetal Heart	heart
9	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
10	chr22:30686200-30687200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr22:30686200-30687200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr22:30686200-30687200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30686200-30687200	Enhancers	Fetal Stomach	stomach
14	chr22:30686200-30687200	Enhancers	Thymus	Thymus
15	chr22:30686200-30687200	Enhancers	A549	lung
16	chr22:30686200-30687400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:30686200-30687400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:30686200-30687400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:30686200-30687400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr22:30686200-30687400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr22:30686200-30687400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:30686200-30687400	Enhancers	Fetal Intestine Large	intestine
23	chr22:30686200-30687600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:30686200-30687600	Enhancers	Primary hematopoietic stem cells	blood
25	chr22:30686200-30687600	Enhancers	Esophagus	oesophagus
26	chr22:30686200-30687600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr22:30686200-30687600	Genic enhancers	Fetal Intestine Small	intestine
28	chr22:30686200-30687600	Enhancers	Fetal Lung	lung
29	chr22:30686200-30687600	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:30686200-30687600	Enhancers	Gastric	stomach
31	chr22:30686200-30687600	Enhancers	NHLF	lung
32	chr22:30686200-30687800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:30686200-30687800	Enhancers	Brain Hippocampus Middle	brain
34	chr22:30686200-30687800	Enhancers	Lung	lung
35	chr22:30686200-30687800	Enhancers	NH-A	brain
36	chr22:30686200-30687800	Enhancers	NHDF-Ad	bronchial
37	chr22:30686200-30688000	Enhancers	Liver	Liver
38	chr22:30686200-30688000	Enhancers	Right Ventricle	heart
39	chr22:30686200-30688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr22:30686200-30688000	Enhancers	HUVEC	blood vessel
41	chr22:30686200-30688200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr22:30686200-30688200	Weak transcription	Aorta	Aorta
43	chr22:30686200-30688200	Enhancers	Brain Angular Gyrus	brain
44	chr22:30686200-30688200	Enhancers	Left Ventricle	heart
45	chr22:30686200-30688200	Enhancers	Pancreas	Pancrea
46	chr22:30686200-30688200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:30686200-30688200	Enhancers	HMEC	breast
48	chr22:30686200-30688400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30686200-30688400	Weak transcription	Ovary	ovary
50	chr22:30686200-30688400	Enhancers	Right Atrium	heart

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