Variant report

Variant	rs2114501
Chromosome Location	chr15:45670316-45670317
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	POLR2A	chr15:45669585-45671424	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:45670238-45671169	GM18951	blood:	n/a	n/a
3	CTCF	chr15:45670316-45670663	MCF-7	breast:	n/a	n/a
4	MAX	chr15:45670204-45670808	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:45670063-45671360	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:45670236-45671387	GM12891	blood:	n/a	n/a
7	CTCF	chr15:45670241-45670661	GM19238	blood:	n/a	chr15:45670304-45670317
8	SIN3AK20	chr15:45670310-45670637	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr15:45670164-45671378	GM12892	blood:	n/a	n/a
10	CTCF	chr15:45670053-45670857	A549	lung:	n/a	chr15:45670304-45670317
11	CTCF	chr15:45670219-45670598	H1-hESC	embryonic stem cell:	n/a	chr15:45670304-45670317
12	CTCF	chr15:45670316-45670595	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:45670295-45670739	GM12878	blood:	n/a	chr15:45670304-45670317
14	E2F6	chr15:45669921-45671050	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF143	chr15:45670145-45671311	GM12878	blood:	n/a	n/a
16	MAX	chr15:45670092-45671019	A549	lung:	n/a	n/a
17	POLR2A	chr15:45668632-45671831	GM12891	blood:	n/a	n/a
18	POLR2A	chr15:45669657-45671407	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr15:45670233-45671264	GM12878	blood:	n/a	n/a
20	MYC	chr15:45670191-45670679	A549	lung:	n/a	n/a
21	MAX	chr15:45669945-45671072	H1-hESC	embryonic stem cell:	n/a	n/a
22	MTA3	chr15:45669708-45670455	GM12878	blood:	n/a	n/a
23	E2F6	chr15:45670269-45670877	A549	lung:	n/a	n/a
24	RAD21	chr15:45670293-45670554	SK-N-SH_RA	brain:	n/a	chr15:45670388-45670402
25	CTCF	chr15:45670295-45670639	A549	lung:	n/a	chr15:45670304-45670317
26	FOSL2	chr15:45670309-45670741	SK-N-SH	brain:	n/a	chr15:45670540-45670550
27	CTCF	chr15:45669802-45670965	SK-N-SH	brain:	n/a	chr15:45669966-45669979 chr15:45670304-45670317
28	CHD2	chr15:45670141-45670436	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr15:45670256-45670760	H1-hESC	embryonic stem cell:	n/a	chr15:45670540-45670550 chr15:45670277-45670286
30	SIN3A	chr15:45669548-45671311	H1-hESC	embryonic stem cell:	n/a	chr15:45670385-45670396 chr15:45670390-45670399
31	POLR2A	chr15:45669821-45671034	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:45670238-45671315	GM15510	blood:	n/a	n/a
33	YY1	chr15:45670214-45670947	GM12892	blood:	n/a	chr15:45670281-45670295 chr15:45670873-45670887 chr15:45670872-45670883 chr15:45670872-45670881 chr15:45670278-45670287 chr15:45670281-45670290
34	TCF3	chr15:45670204-45671041	GM12878	blood:	n/a	chr15:45670817-45670830
35	CTCF	chr15:45670208-45670610	H1-hESC	embryonic stem cell:	n/a	chr15:45670304-45670317
36	POLR2A	chr15:45669723-45671394	GM12891	blood:	n/a	n/a
37	POLR2A	chr15:45670211-45671287	GM12892	blood:	n/a	n/a
38	ZNF263	chr15:45669901-45670971	HEK293-T-REx	kidney:	n/a	n/a
39	CTCF	chr15:45670240-45670390	GM12867	blood:	n/a	chr15:45670304-45670317
40	POLR2A	chr15:45670202-45671056	GM12878	blood:	n/a	n/a
41	TEAD4	chr15:45670266-45670638	H1-hESC	embryonic stem cell:	n/a	n/a
42	FOSL2	chr15:45670305-45670725	MCF-7	breast:	n/a	chr15:45670540-45670550
43	CHD2	chr15:45670092-45671253	GM12878	blood:	n/a	n/a
44	MAX	chr15:45670053-45671275	A549	lung:	n/a	n/a
45	POLR2A	chr15:45669574-45671477	GM12878	blood:	n/a	n/a
46	CTCF	chr15:45670300-45670450	GM12872	blood:	n/a	chr15:45670304-45670317
47	CTCF	chr15:45670256-45670640	IMR90	lung:	n/a	chr15:45670304-45670317
48	YY1	chr15:45670314-45671063	GM12878	blood:	n/a	chr15:45670873-45670887 chr15:45670872-45670883 chr15:45670872-45670881
49	MTA3	chr15:45669783-45671290	GM12878	blood:	n/a	n/a
50	CTCF	chr15:45670280-45670430	GM12875	blood:	n/a	chr15:45670304-45670317

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45670316..45671297-chr6:86353473..86353980,2	Hela-S3	cervix:

Variant related genes	Relation type
GATM	TF binding region
ENSG00000135316	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10444821	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049503	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049508	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519021	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10519022	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070453	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070454	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070456	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070457	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145074	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1145078	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145079	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145081	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145085	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145091	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153847	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153849	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153854	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153858	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852800	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11858495	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12101539	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437840	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437887	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439274	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439575	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440038	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441971	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591058	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593230	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593370	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12593371	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593402	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594857	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595087	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595153	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288775	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909158	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1346266	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1346268	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1554521	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1613559	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618874	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16942000	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16942568	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16943246	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1719247	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1820518	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1890565	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974981	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1980288	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2056493	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066090	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172874	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433611	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453541	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2461701	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467854	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467858	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467864	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486272	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2668747	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28569043	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28605551	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28679834	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759899	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809472	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4271549	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395020	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534782	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572329	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625670	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627277	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774577	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774578	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774579	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774580	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775895	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775906	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775907	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775909	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775911	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775937	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55885762	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56669689	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56806728	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56850226	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59889118	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60476496	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61365925	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524473	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66528868	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66714503	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66939267	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67045941	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67461176	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67744121	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67831559	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087211	1.00[ASN][1000 genomes]
rs7163720	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164139	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164602	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167900	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7168414	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7169587	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169818	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171163	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7171577	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179743	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181167	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7182300	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7182723	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183946	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72623915	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7402632	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7402650	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7494956	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032904	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038342	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042786	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9783731	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788780	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs2114501	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs2114501	SPATA5L1	cis	Esophagus Muscularis	GTEx
rs2114501	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs2114501	SPATA5L1	cis	Nerve Tibial	GTEx
rs2114501	CTD-2651B20.3	cis	lung	GTEx
rs2114501	SPATA5L1	cis	Whole Blood	GTEx
rs2114501	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs2114501	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs2114501	SPATA5L1	cis	lung	GTEx
rs2114501	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs2114501	CTD-2651B20.3	cis	Thyroid	GTEx
rs2114501	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs2114501	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs2114501	SPATA5L1	cis	Thyroid	GTEx
rs2114501	GATM	cis	Muscle Skeletal	GTEx
rs2114501	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45668400-45671200	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr15:45668600-45670400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr15:45668800-45670400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr15:45669000-45670400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr15:45669000-45671200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:45669000-45671200	Active TSS	Ovary	ovary
7	chr15:45669000-45671200	Active TSS	Right Atrium	heart
8	chr15:45669000-45671600	Active TSS	Brain Angular Gyrus	brain
9	chr15:45669000-45671800	Active TSS	Pancreas	Pancrea
10	chr15:45669200-45670400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
11	chr15:45669200-45670800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr15:45669200-45671200	Active TSS	Brain Anterior Caudate	brain
13	chr15:45669200-45671200	Active TSS	Brain Hippocampus Middle	brain
14	chr15:45669200-45671400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr15:45669400-45671200	Active TSS	Brain Substantia Nigra	brain
16	chr15:45669400-45671400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr15:45669400-45675200	Weak transcription	HepG2	liver
18	chr15:45669600-45670400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr15:45669600-45670400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:45669600-45670600	Flanking Active TSS	Fetal Brain Male	brain
21	chr15:45669600-45671000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:45669600-45671000	Active TSS	Brain Cingulate Gyrus	brain
23	chr15:45669600-45671200	Active TSS	Colon Smooth Muscle	Colon
24	chr15:45669600-45671400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
25	chr15:45669600-45671400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr15:45669600-45671400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:45669600-45671400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr15:45669600-45671400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr15:45669600-45671400	Active TSS	Aorta	Aorta
30	chr15:45669600-45671400	Active TSS	Brain Germinal Matrix	brain
31	chr15:45669600-45671600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr15:45669600-45671800	Active TSS	Left Ventricle	heart
33	chr15:45669800-45670400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
35	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
36	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
39	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:45669800-45670400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr15:45669800-45670400	Flanking Active TSS	Colonic Mucosa	Colon
42	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr15:45669800-45670400	Flanking Active TSS	HSMMtube	muscle
45	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	NH-A	brain
46	chr15:45669800-45670400	Flanking Bivalent TSS/Enh	NHEK	skin
47	chr15:45669800-45670600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
48	chr15:45669800-45670600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr15:45669800-45670600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr15:45669800-45670600	Flanking Bivalent TSS/Enh	Thymus	Thymus

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