Variant report

Variant	rs743753
Chromosome Location	chr3:50651395-50651396
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	FOXM1	chr3:50651383-50651898	GM12878	blood:	n/a	n/a
2	MYC	chr3:50651061-50651809	K562	blood:	n/a	n/a
3	SMC3	chr3:50651391-50651910	HepG2	liver:	n/a	chr3:50651686-50651700
4	CTCF	chr3:50651383-50651989	MCF-7	breast:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
5	RAD21	chr3:50651333-50652027	ECC-1	luminal epithelium:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
6	CTCF	chr3:50651373-50651987	K562	blood:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
7	TCF12	chr3:50651369-50651899	A549	lung:	n/a	n/a
8	RAD21	chr3:50651351-50651974	H1-hESC	embryonic stem cell:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
9	CCNT2	chr3:50651064-50651557	K562	blood:	n/a	n/a
10	SMC3	chr3:50651380-50651885	GM12878	blood:	n/a	chr3:50651686-50651700
11	RAD21	chr3:50651379-50651938	MCF-7	breast:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
12	RAD21	chr3:50651245-50651896	HepG2	liver:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
13	RAD21	chr3:50651126-50652119	HCT-116	colon:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
14	SPI1	chr3:50651203-50651395	K562	blood:	n/a	n/a
15	POLR2A	chr3:50646093-50651691	K562	blood:	n/a	n/a
16	RCOR1	chr3:50651157-50651848	K562	blood:	n/a	n/a
17	CTCF	chr3:50651390-50651451	Kidney_OC	kidney:	n/a	n/a
18	POLR2A	chr3:50638521-50651780	K562	blood:	n/a	n/a
19	SMC3	chr3:50648643-50652335	SK-N-SH	brain:	n/a	chr3:50651686-50651700
20	CTCF	chr3:50651351-50652008	HCT-116	colon:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
21	MAZ	chr3:50651376-50651838	K562	blood:	n/a	n/a
22	RAD21	chr3:50651253-50651880	SK-N-SH_RA	brain:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
23	POLR2A	chr3:50637018-50651777	K562	blood:	n/a	n/a
24	TBL1XR1	chr3:50651096-50651840	K562	blood:	n/a	n/a
25	RAD21	chr3:50651306-50651963	HepG2	liver:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
26	MYC	chr3:50650961-50651926	K562	blood:	n/a	n/a
27	CTCF	chr3:50651082-50652497	SK-N-SH	brain:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
28	RAD21	chr3:50651384-50651944	MCF-7	breast:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
29	RAD21	chr3:50650640-50652023	SK-N-SH	brain:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
30	CTCF	chr3:50651125-50652260	HCT-116	colon:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
31	RAD21	chr3:50651292-50651894	HepG2	liver:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
32	POLR2A	chr3:50640734-50651849	K562	blood:	n/a	n/a
33	CTCF	chr3:50651342-50651903	IMR90	lung:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
34	UBTF	chr3:50651273-50651737	K562	blood:	n/a	n/a
35	POLR2A	chr3:50640301-50651577	K562	blood:	n/a	n/a
36	RAD21	chr3:50651351-50651927	ECC-1	luminal epithelium:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
37	RAD21	chr3:50651245-50651949	A549	lung:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
38	RAD21	chr3:50651279-50651901	IMR90	lung:	n/a	chr3:50651684-50651696 chr3:50651682-50651701
39	SMC3	chr3:50651287-50651886	Hela-S3	cervix:	n/a	chr3:50651686-50651700
40	IRF3	chr3:50651384-50651735	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:50640594-50651774	K562	blood:	n/a	n/a
42	CTCF	chr3:50651286-50652139	A549	lung:	n/a	chr3:50651684-50651702 chr3:50651679-50651700 chr3:50651685-50651701
43	RAD21	chr3:50651208-50652102	HCT-116	colon:	n/a	chr3:50651684-50651696 chr3:50651682-50651701

No.	Distal block	Cell Line	Cell type
1	chr3:50588702..50590001-chr3:50651049..50652105,9	MCF-7	breast:
2	chr3:50555922..50558909-chr3:50650666..50652312,2	MCF-7	breast:
3	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:
4	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
5	chr3:50609237..50610758-chr3:50651130..50652154,11	MCF-7	breast:
6	chr3:50648976..50652431-chr3:51425600..51429805,4	K562	blood:
7	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:
8	chr3:50609228..50610208-chr3:50651239..50652218,7	MCF-7	breast:
9	chr3:50610961..50612138-chr3:50651030..50652539,5	K562	blood:
10	chr3:50650329..50653261-chr3:51421520..51424447,2	MCF-7	breast:
11	chr3:50579151..50580119-chr3:50651235..50651871,2	MCF-7	breast:
12	chr3:50581324..50583087-chr3:50650501..50652470,2	MCF-7	breast:
13	chr3:50649298..50656086-chr3:51426248..51430836,9	MCF-7	breast:
14	chr3:50391839..50394347-chr3:50650030..50651588,2	MCF-7	breast:
15	chr3:50556602..50557563-chr3:50651173..50652060,3	K562	blood:
16	chr3:50618273..50619152-chr3:50651206..50651934,3	MCF-7	breast:
17	chr3:50472878..50473722-chr3:50651256..50652161,4	K562	blood:
18	chr3:50586005..50588761-chr3:50650182..50653236,3	MCF-7	breast:
19	chr3:50588800..50589787-chr3:50651201..50652268,5	MCF-7	breast:
20	chr3:50627984..50628913-chr3:50651238..50652151,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPKAPK3-1	chr3:50651223-50651548	NONHSAT089851

Variant related genes	Relation type
MAPKAPK3	TF binding region
CISH	TF binding region
ENSG00000114735	Chromatin interaction
ENSG00000179837	Chromatin interaction
ENSG00000145050	Chromatin interaction
ENSG00000088543	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1077215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1107312	0.85[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.88[JPT][hapmap]
rs11712367	0.82[CHD][hapmap]
rs12486143	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12486717	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12487817	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12487821	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs12489607	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12491440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12491812	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12492093	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12492540	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12492982	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12494094	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12494326	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12495399	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs17050991	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17050995	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17051000	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17051043	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051045	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17051403	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs175634	0.83[CHD][hapmap]
rs1872184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1894459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2035484	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2076927	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2170840	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227292	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2227293	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239750	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239751	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239752	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2239753	1.00[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2285090	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3749265	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3752449	0.98[ASN][1000 genomes]
rs375544	0.82[CHD][hapmap]
rs3792323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3792328	0.82[CHD][hapmap]
rs3806706	0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs4476497	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4485709	0.82[CHD][hapmap]
rs453570	0.81[CHD][hapmap]
rs4640555	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4688696	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs4688705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4688707	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4688709	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4688710	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4688713	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4688715	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4688716	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs56170012	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56856095	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57910827	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58427389	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58529408	0.82[ASN][1000 genomes]
rs59036236	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60552073	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs60877431	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61193866	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61316441	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61574029	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61613532	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs616689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6446208	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6446212	0.82[CHD][hapmap]
rs6446213	0.82[CHD][hapmap]
rs6446222	0.81[CHD][hapmap]
rs650655	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6766638	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6771348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6779819	0.82[CHD][hapmap]
rs6783922	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6794155	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6796769	0.82[CHD][hapmap]
rs728902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72938758	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72940708	0.83[EUR][1000 genomes]
rs72942785	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72942794	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72944726	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72944730	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73835531	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs745356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7615703	0.82[CHD][hapmap]
rs762889	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs808148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs813243	0.82[CHD][hapmap]
rs876103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs876104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs876105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9814874	0.85[CHB][hapmap]
rs9825535	0.82[CHD][hapmap]
rs9868889	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9869945	0.82[CHD][hapmap]
rs9879397	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs743753	MAPKAPK3	cis	lymphoblastoid	seeQTL
rs743753	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50649600-50651400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr3:50649600-50651400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:50649600-50651600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:50649800-50651600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr3:50649800-50651600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr3:50649800-50653000	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr3:50650000-50651400	Flanking Active TSS	Liver	Liver
8	chr3:50650000-50651400	Weak transcription	Right Atrium	heart
9	chr3:50650000-50651600	Enhancers	Primary B cells from cord blood	blood
10	chr3:50650000-50651600	Enhancers	GM12878-XiMat	blood
11	chr3:50650000-50651800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:50650000-50651800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr3:50650000-50652000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:50650000-50653200	Weak transcription	HMEC	breast
15	chr3:50650000-50653600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:50650200-50651400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:50650200-50651400	Enhancers	Ovary	ovary
18	chr3:50650200-50651600	Enhancers	Primary hematopoietic stem cells	blood
19	chr3:50650200-50651800	Enhancers	Colon Smooth Muscle	Colon
20	chr3:50650200-50653200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:50650200-50653200	Weak transcription	Brain Anterior Caudate	brain
22	chr3:50650200-50653200	Weak transcription	Brain Substantia Nigra	brain
23	chr3:50650200-50653200	Weak transcription	HSMM	muscle
24	chr3:50650200-50653600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:50650200-50653600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:50650200-50653600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:50650200-50653600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:50650200-50653600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:50650200-50653600	Weak transcription	HSMMtube	muscle
30	chr3:50650200-50653600	Weak transcription	NH-A	brain
31	chr3:50650200-50653600	Weak transcription	Osteobl	bone
32	chr3:50650200-50653800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:50650400-50651400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:50650400-50651400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:50650400-50651400	Weak transcription	NHDF-Ad	bronchial
36	chr3:50650400-50651600	Enhancers	Colonic Mucosa	Colon
37	chr3:50650400-50651600	Enhancers	Fetal Lung	lung
38	chr3:50650400-50651600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr3:50650400-50651600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr3:50650400-50651600	Flanking Active TSS	K562	blood
41	chr3:50650400-50651800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:50650400-50651800	Enhancers	Adipose Nuclei	Adipose
43	chr3:50650400-50651800	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:50650400-50651800	Enhancers	Fetal Muscle Leg	muscle
45	chr3:50650400-50651800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr3:50650400-50652000	Enhancers	Duodenum Mucosa	Duodenum
47	chr3:50650400-50652200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:50650400-50652800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:50650400-50653200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:50650400-50653200	Weak transcription	Brain Hippocampus Middle	brain

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