Variant report

Variant	rs7164139
Chromosome Location	chr15:45670851-45670852
allele	A/G
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	chr15:45670453-45671303	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:45670238-45671169	GM18951	blood:	n/a	n/a
4	USF1	chr15:45670436-45670920	GM12878	blood:	n/a	n/a
5	USF1	chr15:45670381-45671033	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:45670063-45671360	GM12891	blood:	n/a	n/a
7	TBP	chr15:45670525-45671286	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:45670236-45671387	GM12891	blood:	n/a	n/a
9	USF2	chr15:45670352-45671289	GM12878	blood:	n/a	n/a
10	TCF12	chr15:45670736-45670989	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF1	chr15:45670728-45670982	SK-N-SH_RA	brain:	n/a	n/a
12	POLR2A	chr15:45670164-45671378	GM12892	blood:	n/a	n/a
13	CTCF	chr15:45670053-45670857	A549	lung:	n/a	chr15:45670304-45670317
14	E2F6	chr15:45669921-45671050	H1-hESC	embryonic stem cell:	n/a	n/a
15	SRF	chr15:45670664-45671072	H1-hESC	embryonic stem cell:	n/a	chr15:45670830-45670840 chr15:45670902-45670920 chr15:45670848-45670865
16	POLR2A	chr15:45670322-45670924	SK-N-MC	brain:	n/a	n/a
17	ZNF143	chr15:45670145-45671311	GM12878	blood:	n/a	n/a
18	MAX	chr15:45670092-45671019	A549	lung:	n/a	n/a
19	POLR2A	chr15:45668632-45671831	GM12891	blood:	n/a	n/a
20	POLR2A	chr15:45669657-45671407	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr15:45670233-45671264	GM12878	blood:	n/a	n/a
22	MAX	chr15:45669945-45671072	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr15:45670269-45670877	A549	lung:	n/a	n/a
24	MYC	chr15:45670346-45671267	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr15:45670502-45671005	GM12878	blood:	n/a	n/a
26	NFYB	chr15:45670348-45671047	GM12878	blood:	n/a	n/a
27	SRF	chr15:45670737-45671065	ECC-1	luminal epithelium:	n/a	chr15:45670830-45670840 chr15:45670902-45670920 chr15:45670848-45670865
28	POU2F2	chr15:45670466-45671329	GM12878	blood:	n/a	chr15:45671073-45671086 chr15:45671037-45671059 chr15:45671076-45671090 chr15:45671074-45671092 chr15:45671037-45671058 chr15:45671073-45671086 chr15:45671073-45671086 chr15:45671079-45671088
29	SRF	chr15:45670622-45671054	GM12878	blood:	n/a	chr15:45670830-45670840 chr15:45670902-45670920 chr15:45670848-45670865
30	CTCF	chr15:45669802-45670965	SK-N-SH	brain:	n/a	chr15:45669966-45669979 chr15:45670304-45670317
31	POLR2A	chr15:45670409-45671389	GM12891	blood:	n/a	n/a
32	BRCA1	chr15:45670819-45671190	H1-hESC	embryonic stem cell:	n/a	chr15:45670937-45670944
33	ZBTB33	chr15:45670752-45671108	GM12878	blood:	n/a	n/a
34	SIN3A	chr15:45669548-45671311	H1-hESC	embryonic stem cell:	n/a	chr15:45670385-45670396 chr15:45670390-45670399
35	POLR2A	chr15:45669821-45671034	GM12878	blood:	n/a	n/a
36	USF1	chr15:45670381-45670955	SK-N-SH_RA	brain:	n/a	n/a
37	POLR2A	chr15:45670238-45671315	GM15510	blood:	n/a	n/a
38	NFE2	chr15:45670691-45670981	GM12878	blood:	n/a	n/a
39	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
40	TCF3	chr15:45670204-45671041	GM12878	blood:	n/a	chr15:45670817-45670830
41	POLR2A	chr15:45669723-45671394	GM12891	blood:	n/a	n/a
42	POLR2A	chr15:45670211-45671287	GM12892	blood:	n/a	n/a
43	POLR2A	chr15:45670351-45670968	A549	lung:	n/a	n/a
44	ZNF263	chr15:45669901-45670971	HEK293-T-REx	kidney:	n/a	n/a
45	PAX5	chr15:45670410-45670934	GM12892	blood:	n/a	n/a
46	POLR2A	chr15:45670202-45671056	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:45670358-45671139	GM18526	blood:	n/a	n/a
48	CHD2	chr15:45670092-45671253	GM12878	blood:	n/a	n/a
49	MAX	chr15:45670053-45671275	A549	lung:	n/a	n/a
50	POLR2A	chr15:45669574-45671477	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45670796..45672296-chr6:86353314..86354922,2	MCF-7	breast:
2	chr15:45670796..45671317-chr6:86353272..86353912,2	MCF-7	breast:
3	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];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049503	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049508	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519021	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10519022	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070453	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070454	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145074	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1145078	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145079	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145081	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145085	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145091	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153847	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153849	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153854	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153858	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852800	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11858495	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12101539	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439274	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440038	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441971	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591058	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593230	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593370	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12593371	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593402	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594857	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595087	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288775	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909158	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1346266	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1346268	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1554521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1613559	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618874	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16942000	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16942568	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16943246	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1719247	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1820518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1890565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974981	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1980288	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2056493	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066090	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114501	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172874	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433611	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453541	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2461701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467854	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467858	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467864	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486272	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2668747	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28569043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28605551	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28679834	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759899	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809472	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4271549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395020	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534782	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572329	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625670	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774577	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774578	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774579	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774580	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775895	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775906	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775907	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775909	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775911	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775937	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55885762	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56669689	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56806728	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56850226	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59889118	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60476496	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61365925	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524473	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66528868	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66714503	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66939267	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67045941	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67461176	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67744121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67831559	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087211	1.00[ASN][1000 genomes]
rs7163720	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164602	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167900	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7168414	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7169587	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169818	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171163	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7171577	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179743	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7182300	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7182723	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183946	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72623915	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7402632	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7402650	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7494956	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032904	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038342	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042786	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9783731	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788780	0.94[AFR][1000 genomes];1.00[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
rs7164139	CTD-2651B20.3	cis	lung	GTEx
rs7164139	SPATA5L1	cis	Thyroid	GTEx
rs7164139	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs7164139	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs7164139	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs7164139	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs7164139	SPATA5L1	cis	Nerve Tibial	GTEx
rs7164139	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs7164139	CTD-2651B20.3	cis	Thyroid	GTEx
rs7164139	SPATA5L1	cis	Whole Blood	GTEx
rs7164139	SPATA5L1	cis	lung	GTEx
rs7164139	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs7164139	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs7164139	GATM	cis	Muscle Skeletal	GTEx
rs7164139	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs7164139	SPATA5L1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:123 , 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	chr15:45669000-45671200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr15:45669000-45671200	Active TSS	Ovary	ovary
4	chr15:45669000-45671200	Active TSS	Right Atrium	heart
5	chr15:45669000-45671600	Active TSS	Brain Angular Gyrus	brain
6	chr15:45669000-45671800	Active TSS	Pancreas	Pancrea
7	chr15:45669200-45671200	Active TSS	Brain Anterior Caudate	brain
8	chr15:45669200-45671200	Active TSS	Brain Hippocampus Middle	brain
9	chr15:45669200-45671400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr15:45669400-45671200	Active TSS	Brain Substantia Nigra	brain
11	chr15:45669400-45671400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr15:45669400-45675200	Weak transcription	HepG2	liver
13	chr15:45669600-45671000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:45669600-45671000	Active TSS	Brain Cingulate Gyrus	brain
15	chr15:45669600-45671200	Active TSS	Colon Smooth Muscle	Colon
16	chr15:45669600-45671400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr15:45669600-45671400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr15:45669600-45671400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr15:45669600-45671400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr15:45669600-45671400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr15:45669600-45671400	Active TSS	Aorta	Aorta
22	chr15:45669600-45671400	Active TSS	Brain Germinal Matrix	brain
23	chr15:45669600-45671600	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr15:45669600-45671800	Active TSS	Left Ventricle	heart
25	chr15:45669800-45671000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:45669800-45671000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
27	chr15:45669800-45671000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:45669800-45671200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:45669800-45671200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr15:45669800-45671200	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr15:45669800-45671200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr15:45669800-45671200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:45669800-45671200	Bivalent/Poised TSS	NHLF	lung
34	chr15:45669800-45671400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr15:45669800-45671400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr15:45669800-45671400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:45669800-45671400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr15:45669800-45671400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:45669800-45671400	Active TSS	Esophagus	oesophagus
40	chr15:45669800-45671400	Active TSS	Psoas Muscle	Psoas
41	chr15:45669800-45671400	Active TSS	Rectal Smooth Muscle	rectum
42	chr15:45669800-45671400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr15:45670000-45671000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:45670000-45671000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:45670000-45671000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:45670000-45671000	Active TSS	Fetal Brain Female	brain
47	chr15:45670000-45671200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:45670000-45671200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:45670000-45671200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr15:45670000-45671200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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