Variant report

Variant	rs10898814
Chromosome Location	chr11:71736505-71736506
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	CTCF	chr11:71736091-71736611	MCF-7	breast:	n/a	chr11:71736323-71736344 chr11:71736321-71736339 chr11:71736525-71736532
2	ZC3H11A	chr11:71736314-71736659	K562	blood:	n/a	n/a
3	CBX3	chr11:71736246-71736513	K562	blood:	n/a	n/a
4	EP300	chr11:71735019-71736915	SK-N-SH	brain:	n/a	n/a
5	RCOR1	chr11:71736288-71736510	HepG2	liver:	n/a	n/a
6	ZNF143	chr11:71736166-71736508	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr11:71736150-71736720	A549	lung:	n/a	chr11:71736322-71736341
8	RAD21	chr11:71736140-71736711	H1-hESC	embryonic stem cell:	n/a	chr11:71736322-71736341
9	CTCF	chr11:71736119-71736540	GM12878	blood:	n/a	chr11:71736323-71736344 chr11:71736321-71736339 chr11:71736525-71736532
10	SMC3	chr11:71736140-71736551	K562	blood:	n/a	chr11:71736323-71736337
11	FOXM1	chr11:71736113-71736544	GM12878	blood:	n/a	n/a
12	GTF2F1	chr11:71736212-71736508	Hela-S3	cervix:	n/a	n/a
13	MYC	chr11:71736202-71736516	NB4	blood:	n/a	n/a
14	CTCF	chr11:71736123-71736519	HepG2	liver:	n/a	chr11:71736323-71736344 chr11:71736321-71736339
15	SMC3	chr11:71736158-71736529	HepG2	liver:	n/a	chr11:71736323-71736337
16	BACH1	chr11:71736456-71736507	K562	blood:	n/a	n/a
17	RAD21	chr11:71736104-71736705	MCF-7	breast:	n/a	chr11:71736322-71736341
18	CTCF	chr11:71736015-71736585	K562	blood:	n/a	chr11:71736323-71736344 chr11:71736321-71736339 chr11:71736525-71736532
19	RAD21	chr11:71736147-71736621	ECC-1	luminal epithelium:	n/a	chr11:71736322-71736341
20	CTCF	chr11:71736091-71736526	H1-hESC	embryonic stem cell:	n/a	chr11:71736323-71736344 chr11:71736321-71736339
21	RAD21	chr11:71736153-71736538	A549	lung:	n/a	chr11:71736322-71736341
22	CTCF	chr11:71736160-71736512	Spleen_OC	spleen:	n/a	chr11:71736323-71736344 chr11:71736321-71736339
23	POLR2A	chr11:71736212-71736656	K562	blood:	n/a	n/a
24	RAD21	chr11:71736152-71736630	HepG2	liver:	n/a	chr11:71736322-71736341
25	RAD21	chr11:71736111-71736642	H1-hESC	embryonic stem cell:	n/a	chr11:71736322-71736341
26	RAD21	chr11:71736102-71736521	HepG2	liver:	n/a	chr11:71736322-71736341
27	RAD21	chr11:71736136-71736636	HCT-116	colon:	n/a	chr11:71736322-71736341
28	RAD21	chr11:71736150-71736542	HepG2	liver:	n/a	chr11:71736322-71736341
29	RAD21	chr11:71736157-71736549	K562	blood:	n/a	chr11:71736322-71736341
30	SMC3	chr11:71736149-71736823	GM12878	blood:	n/a	chr11:71736323-71736337
31	CTCF	chr11:71736092-71736516	A549	lung:	n/a	chr11:71736323-71736344 chr11:71736321-71736339
32	RAD21	chr11:71736115-71737008	IMR90	lung:	n/a	chr11:71736322-71736341
33	JUND	chr11:71736194-71736533	K562	blood:	n/a	n/a
34	MYC	chr11:71736173-71736514	K562	blood:	n/a	n/a
35	MAX	chr11:71736209-71736514	NB4	blood:	n/a	n/a
36	CTCF	chr11:71736154-71736628	HCT-116	colon:	n/a	chr11:71736323-71736344 chr11:71736321-71736339 chr11:71736525-71736532
37	RAD21	chr11:71736172-71736577	SK-N-SH_RA	brain:	n/a	chr11:71736322-71736341
38	RAD21	chr11:71736120-71736955	SK-N-SH	brain:	n/a	chr11:71736322-71736341
39	CTCF	chr11:71736174-71736537	H1-hESC	embryonic stem cell:	n/a	chr11:71736323-71736344 chr11:71736321-71736339 chr11:71736525-71736532
40	RAD21	chr11:71736137-71736570	Hela-S3	cervix:	n/a	chr11:71736322-71736341
41	GATA3	chr11:71736167-71736547	T-47D	breast:	n/a	n/a
42	RAD21	chr11:71736110-71736639	A549	lung:	n/a	chr11:71736322-71736341
43	MAX	chr11:71736140-71736559	MCF-7	breast:	n/a	n/a
44	CTCF	chr11:71736069-71736781	HCT-116	colon:	n/a	chr11:71736323-71736344 chr11:71736321-71736339 chr11:71736525-71736532
45	CTCF	chr11:71736156-71736515	T-47D	breast:	n/a	chr11:71736323-71736344 chr11:71736321-71736339
46	RAD21	chr11:71736168-71736505	K562	blood:	n/a	chr11:71736322-71736341
47	MAZ	chr11:71736185-71736508	K562	blood:	n/a	n/a
48	RAD21	chr11:71736150-71736568	GM12878	blood:	n/a	chr11:71736322-71736341
49	RAD21	chr11:71735987-71736706	MCF-7	breast:	n/a	chr11:71736322-71736341
50	UBTF	chr11:71736356-71736572	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71735278..71739296-chr11:71791106..71793307,3	MCF-7	breast:
2	chr11:71736305..71737102-chr11:71894203..71895181,2	K562	blood:
3	chr11:71736299..71737011-chr11:71854769..71855288,2	K562	blood:
4	chr11:71733604..71737833-chr11:71811997..71815389,3	MCF-7	breast:
5	chr11:71736259..71736777-chr11:72124914..72125648,2	K562	blood:
6	chr11:71735775..71738006-chr11:71790062..71791994,2	MCF-7	breast:
7	chr11:71736273..71736838-chr11:71948885..71950174,5	K562	blood:
8	chr11:71734724..71737619-chr11:71934939..71936763,2	MCF-7	breast:
9	chr11:71736279..71741735-chr11:71748156..71753835,11	MCF-7	breast:
10	chr11:71736115..71737039-chr11:71854770..71856004,4	MCF-7	breast:
11	chr11:71735901..71736888-chr11:71802036..71802559,3	K562	blood:
12	chr11:71733947..71737964-chr11:71799047..71803336,5	MCF-7	breast:
13	chr11:71735259..71738046-chr11:71798702..71801474,2	MCF-7	breast:
14	chr11:71735248..71738213-chr11:71822405..71824486,2	MCF-7	breast:
15	chr11:71734617..71736774-chr11:71947539..71949807,2	MCF-7	breast:

Variant related genes	Relation type
NUMA1	TF binding region
ENSG00000238768	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10128658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736781	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736782	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736786	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10751189	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10751190	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10751193	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10793016	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898817	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235440	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12272213	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12283462	0.86[ASN][1000 genomes]
rs12293885	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1541306	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1573500	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1573502	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1629046	0.80[EUR][1000 genomes]
rs17161966	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17161980	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17161991	0.86[ASN][1000 genomes]
rs1783959	0.81[EUR][1000 genomes]
rs1791544	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1806778	0.86[ASN][1000 genomes]
rs1892919	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1892921	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1894003	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939242	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939245	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187496	0.88[ASN][1000 genomes]
rs2250866	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298456	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2298457	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2363736	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508578	0.80[EUR][1000 genomes]
rs2511074	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511075	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511076	0.87[ASN][1000 genomes]
rs2511078	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511079	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2511114	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511116	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511122	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2845857	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28504107	0.84[ASN][1000 genomes]
rs2885880	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3018301	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018304	0.85[ASN][1000 genomes]
rs3018308	0.88[ASN][1000 genomes]
rs3133230	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3133233	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3750908	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3793938	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814721	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3886589	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4121395	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4338555	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4479013	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4491255	0.86[ASN][1000 genomes]
rs474231	0.83[EUR][1000 genomes]
rs475959	0.80[EUR][1000 genomes]
rs482013	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs493065	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4943821	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944232	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944242	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944259	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4945340	0.84[EUR][1000 genomes]
rs4945353	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945426	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945434	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945435	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs495567	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs499386	0.80[EUR][1000 genomes]
rs510925	0.87[ASN][1000 genomes]
rs514431	0.83[EUR][1000 genomes]
rs517837	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs519098	0.83[EUR][1000 genomes]
rs529522	0.80[EUR][1000 genomes]
rs541022	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs542752	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs547208	0.82[ASN][1000 genomes]
rs548961	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs550230	0.83[EUR][1000 genomes]
rs552966	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs558859	0.83[EUR][1000 genomes]
rs55972015	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs560777	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56097487	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57025151	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs585228	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58991229	0.83[ASN][1000 genomes]
rs596130	0.81[EUR][1000 genomes]
rs597513	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs598835	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs601865	0.80[EUR][1000 genomes]
rs607446	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs610004	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs610041	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs615000	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs618186	0.81[EUR][1000 genomes]
rs627329	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs636946	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs642573	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs642618	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs656640	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592448	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592449	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6592450	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592451	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592452	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592455	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6592458	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592459	0.86[ASN][1000 genomes]
rs659513	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs661242	0.81[EUR][1000 genomes]
rs670802	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs671681	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs673478	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs675185	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676721	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs677279	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs678193	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs679926	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs680150	0.81[EUR][1000 genomes]
rs7101701	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7102192	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7103210	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7106748	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7113549	0.86[ASN][1000 genomes]
rs7116188	0.86[ASN][1000 genomes]
rs7116495	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7121260	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7123102	0.86[ASN][1000 genomes]
rs7123992	0.80[ASN][1000 genomes]
rs7124000	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126838	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7127865	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7128317	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7128346	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73531952	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73539529	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73539532	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73543609	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73543633	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7480015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924516	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7925901	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7930142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931941	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937582	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943227	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7948821	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7949480	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7951194	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs947932	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs949325	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs949326	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10898814	NUMA1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71677200-71736600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:71709600-71737000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:71709800-71736600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:71709800-71748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:71710800-71743200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:71710800-71748000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:71711000-71736600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:71711000-71741800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:71711000-71748800	Strong transcription	Dnd41	blood
10	chr11:71711200-71742400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:71711400-71747600	Strong transcription	Fetal Thymus	thymus
12	chr11:71711600-71736600	Strong transcription	Fetal Lung	lung
13	chr11:71711600-71747800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:71711800-71736600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr11:71711800-71737800	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:71711800-71742800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:71711800-71743200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:71711800-71744200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:71712800-71741000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:71713400-71740800	Strong transcription	HepG2	liver
21	chr11:71713400-71741600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:71713800-71736600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:71713800-71742400	Strong transcription	Primary hematopoietic stem cells	blood
24	chr11:71714600-71742400	Strong transcription	Hela-S3	cervix
25	chr11:71715000-71736800	Strong transcription	Fetal Kidney	kidney
26	chr11:71715200-71736600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr11:71716600-71737200	Strong transcription	Spleen	Spleen
28	chr11:71725200-71741400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:71725600-71747400	Strong transcription	Thymus	Thymus
30	chr11:71725800-71737000	Strong transcription	HSMMtube	muscle
31	chr11:71725800-71740200	Strong transcription	Gastric	stomach
32	chr11:71726200-71736600	Strong transcription	Lung	lung
33	chr11:71726600-71740400	Strong transcription	K562	blood
34	chr11:71727200-71740600	Strong transcription	Esophagus	oesophagus
35	chr11:71727800-71750200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:71730600-71748800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:71734200-71743000	Genic enhancers	Fetal Intestine Large	intestine
38	chr11:71734400-71744400	Genic enhancers	Fetal Intestine Small	intestine
39	chr11:71734600-71736800	Genic enhancers	HMEC	breast
40	chr11:71734600-71737600	Genic enhancers	NHEK	skin
41	chr11:71734600-71738600	Weak transcription	Stomach Mucosa	stomach
42	chr11:71734600-71743400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:71734800-71738200	Genic enhancers	Fetal Stomach	stomach
44	chr11:71735000-71736600	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr11:71735000-71739000	Genic enhancers	Duodenum Smooth Muscle	Duodenum
46	chr11:71735000-71740600	Genic enhancers	Colon Smooth Muscle	Colon
47	chr11:71735200-71736600	Weak transcription	Psoas Muscle	Psoas
48	chr11:71735200-71737000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
49	chr11:71735200-71738000	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:71735400-71736600	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links