Variant report

Variant	rs2187092
Chromosome Location	chr18:44526798-44526799
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	SIN3AK20	chr18:44526781-44527095	PFSK-1	brain:	n/a	n/a
2	SIN3AK20	chr18:44526721-44527210	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA1	chr18:44526480-44526800	T-47D	breast:	n/a	n/a
4	PBX3	chr18:44526543-44526915	A549	lung:	n/a	chr18:44526612-44526621
5	SP4	chr18:44526576-44527188	H1-hESC	embryonic stem cell:	n/a	chr18:44526733-44526749
6	NFYB	chr18:44526443-44527266	K562	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
7	SIN3AK20	chr18:44526535-44527142	SK-N-SH	brain:	n/a	n/a
8	SP1	chr18:44526485-44526937	GM12878	blood:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
9	SIN3A	chr18:44526340-44527294	H1-hESC	embryonic stem cell:	n/a	chr18:44526352-44526362
10	MXI1	chr18:44526556-44527252	H1-hESC	embryonic stem cell:	n/a	chr18:44526964-44526979 chr18:44526966-44526981
11	MAX	chr18:44526478-44527168	H1-hESC	embryonic stem cell:	n/a	chr18:44526966-44526975
12	SP2	chr18:44526421-44526941	H1-hESC	embryonic stem cell:	n/a	chr18:44526737-44526746
13	MAX	chr18:44526531-44527223	SK-N-SH	brain:	n/a	chr18:44526966-44526975
14	POLR2A	chr18:44526560-44527020	ECC-1	luminal epithelium:	n/a	n/a
15	GTF2F1	chr18:44526626-44526836	H1-hESC	embryonic stem cell:	n/a	n/a
16	SP1	chr18:44526408-44526971	A549	lung:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
17	MXI1	chr18:44525780-44527672	SK-N-SH	brain:	n/a	chr18:44526964-44526979 chr18:44526966-44526981
18	POLR2A	chr18:44526637-44527165	MCF-7	breast:	n/a	n/a
19	SP2	chr18:44526531-44526858	K562	blood:	n/a	chr18:44526737-44526746
20	SIN3AK20	chr18:44526447-44527407	MCF-7	breast:	n/a	n/a
21	PBX3	chr18:44526387-44527322	SK-N-SH	brain:	n/a	chr18:44526612-44526621
22	PBX3	chr18:44526531-44526820	GM12878	blood:	n/a	chr18:44526612-44526621
23	ZNF143	chr18:44526741-44527218	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFYA	chr18:44526139-44526876	GM12878	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
25	CHD2	chr18:44526479-44527130	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr18:44526556-44526935	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr18:44526441-44527223	ECC-1	luminal epithelium:	n/a	chr18:44526966-44526975
28	POLR2A	chr18:44526677-44527248	Raji	blood:	n/a	n/a
29	PBX3	chr18:44526396-44527024	SK-N-SH	brain:	n/a	chr18:44526612-44526621
30	SP1	chr18:44526439-44526875	GM12878	blood:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
31	JUND	chr18:44526784-44527296	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr18:44526413-44526967	H1-hESC	embryonic stem cell:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
33	NFYA	chr18:44526458-44526911	K562	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
34	POLR2A	chr18:44526567-44526935	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr18:44526794-44526799	ProgFib	skin:	n/a	n/a
36	POU2F2	chr18:44526478-44527143	GM12891	blood:	n/a	n/a
37	SIN3AK20	chr18:44526630-44527166	H1-hESC	embryonic stem cell:	n/a	n/a
38	PBX3	chr18:44526434-44526966	A549	lung:	n/a	chr18:44526612-44526621
39	SP1	chr18:44526404-44526946	A549	lung:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
40	PBX3	chr18:44526508-44526827	GM12878	blood:	n/a	chr18:44526612-44526621
41	NFYB	chr18:44526330-44527343	GM12878	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
42	SP1	chr18:44526511-44527309	H1-hESC	embryonic stem cell:	n/a	chr18:44527183-44527204 chr18:44526736-44526743 chr18:44526739-44526748
43	SP2	chr18:44526458-44527079	H1-hESC	embryonic stem cell:	n/a	chr18:44526737-44526746

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44526756-44526806	ECC-1	luminal epithelium:	n/a
2	chr18:44526756-44526806	GM12892	blood:	n/a
3	chr18:44526756-44526806	IMR90	lung:	fetal
4	chr18:44526756-44526806	H1-hESC	embryonic stem cell:	embryo
5	chr18:44526756-44526806	NH-A	brain:	n/a
6	chr18:44526756-44526806	HUVEC	blood vessel:	n/a
7	chr18:44526756-44526806	HCT-116	colon:	n/a
8	chr18:44526756-44526806	Jurkat	blood:	n/a
9	chr18:44526756-44526806	Hepatocyte	liver:	n/a
10	chr18:44526756-44526806	ovcar-3	ovarian:	n/a
11	chr18:44526756-44526806	AG09319	gingival:	n/a
12	chr18:44526756-44526806	HCPEpiC	choroid plexus:	n/a
13	chr18:44526756-44526806	Caco-2	colon:	n/a
14	chr18:44526756-44526806	BE2_C	brain:	n/a
15	chr18:44526756-44526806	HCF	heart:	n/a
16	chr18:44526756-44526806	SK-N-MC	brain:	n/a
17	chr18:44526756-44526806	SK-N-SH_RA	brain:	n/a
18	chr18:44526756-44526806	HRPEpiC	eye:	n/a
19	chr18:44526756-44526806	BJ	skin:	n/a
20	chr18:44526756-44526806	LNCaP	prostate:	n/a
21	chr18:44526756-44526806	NT2-D1	testis:	n/a
22	chr18:44526756-44526806	MCF-7	breast:	n/a
23	chr18:44526756-44526806	NHBE	bronchial:	n/a
24	chr18:44526756-44526806	K562	blood:	n/a
25	chr18:44526756-44526806	AoSMC	blood vessel:	n/a
26	chr18:44526756-44526806	SKMC	muscle:	n/a
27	chr18:44526756-44526806	GM19239	blood:	n/a
28	chr18:44526756-44526806	PANC-1	pancreas:	n/a
29	chr18:44526756-44526806	AG10803	skin:	n/a
30	chr18:44526756-44526806	SK-N-SH	brain:	n/a
31	chr18:44526756-44526806	T-47D	breast:	n/a
32	chr18:44526756-44526806	HL-60	blood:	n/a
33	chr18:44526756-44526806	GM12891	blood:	n/a
34	chr18:44526756-44526806	HEK293	kidney:	embryo
35	chr18:44526756-44526806	HIPEpiC	eye:	n/a
36	chr18:44526756-44526806	GM12878	blood:	n/a
37	chr18:44526756-44526806	HRCEpiC	kidney:	n/a
38	chr18:44526756-44526806	NHDF-neo	bronchial:	n/a
39	chr18:44526756-44526806	AG09309	skin:	n/a
40	chr18:44526756-44526806	PFSK-1	brain:	n/a
41	chr18:44526756-44526806	HNPCEpiC	eye:	n/a
42	chr18:44526756-44526806	SAEC	small airway:	n/a
43	chr18:44526756-44526806	NB4	blood:	n/a
44	chr18:44526756-44526806	PrEC	prostate:	n/a
45	chr18:44526756-44526806	HMEC	breast:	n/a
46	chr18:44526756-44526806	HepG2	liver:	n/a
47	chr18:44526756-44526806	U87	brain:	n/a
48	chr18:44526756-44526806	MCF10A-Er-Src	breast:	n/a
49	chr18:44526756-44526806	AG04449	skin:	fetal
50	chr18:44526756-44526806	ProgFib	skin:	n/a

Variant related genes	Relation type
KATNAL2	TF binding region
KATNAL2	CpG island

Extended variants
information (count: 101 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10070	0.94[JPT][hapmap]
rs10853544	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10853545	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10853547	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082562	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11660085	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12386118	0.93[ASN][1000 genomes]
rs1465722	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs1539878	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789152	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1893427	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1970668	0.86[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2010834	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2032215	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2051292	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2156050	0.89[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2187090	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2187091	0.93[ASN][1000 genomes]
rs2571024	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2571026	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2571028	0.91[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.81[ASN][1000 genomes]
rs2576040	0.82[GIH][hapmap]
rs2576042	0.82[GIH][hapmap]
rs2576050	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2576051	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3744863	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3892820	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4258717	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs477826	0.94[JPT][hapmap]
rs4890341	0.89[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4890342	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4890343	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4890347	0.88[ASN][1000 genomes]
rs4890698	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs4890699	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4890700	0.93[ASN][1000 genomes]
rs4890703	0.94[EUR][1000 genomes]
rs4890707	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs501062	0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs501882	0.88[JPT][hapmap]
rs504668	0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs509647	0.81[EUR][1000 genomes]
rs513775	0.92[CHD][hapmap];0.98[GIH][hapmap]
rs530205	1.00[GIH][hapmap];0.88[JPT][hapmap]
rs553456	0.89[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs577200	0.88[CEU][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs578451	0.88[JPT][hapmap]
rs590923	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs593340	0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs605487	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs607780	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs616900	0.94[JPT][hapmap]
rs626217	0.89[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs641366	0.82[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs642897	0.89[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs644731	0.86[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap]
rs646128	1.00[GIH][hapmap];0.88[JPT][hapmap]
rs649076	0.89[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6507709	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs6507714	0.94[EUR][1000 genomes]
rs658756	0.89[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs680018	0.88[JPT][hapmap]
rs695001	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7227700	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7234570	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7240239	0.89[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7244013	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244778	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7245049	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8086286	0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs8089938	0.86[EUR][1000 genomes]
rs8091984	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8094654	0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8095373	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096263	0.93[ASN][1000 genomes]
rs8097455	0.80[CEU][hapmap]
rs892586	0.91[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9304336	0.82[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs9304337	0.88[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs9304338	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304339	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9304340	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9945443	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9947131	0.96[ASN][1000 genomes]
rs9948405	0.81[ASN][1000 genomes]
rs9954336	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs9959877	0.96[ASN][1000 genomes]
rs9960463	0.80[AMR][1000 genomes]
rs9962523	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9966646	0.95[ASN][1000 genomes]
rs998819	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1062682	chr18:44509052-44539223	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1825684	chr18:44526351-44549177	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2187092	ST8SIA5	cis	cerebellum	SCAN
rs2187092	ST8SIA5	cis	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44520200-44526800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:44526000-44527600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr18:44526200-44527200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:44526200-44527200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr18:44526200-44527200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:44526200-44527200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr18:44526200-44527200	Active TSS	Liver	Liver
8	chr18:44526200-44527200	Active TSS	Brain Anterior Caudate	brain
9	chr18:44526200-44527200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr18:44526200-44527200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr18:44526200-44527200	Active TSS	Fetal Brain Female	brain
12	chr18:44526200-44527200	Active TSS	Fetal Heart	heart
13	chr18:44526200-44527200	Active TSS	GM12878-XiMat	blood
14	chr18:44526200-44527400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:44526200-44527400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:44526200-44527400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:44526200-44527400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr18:44526200-44527400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:44526200-44527400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:44526200-44527400	Active TSS	Brain Angular Gyrus	brain
21	chr18:44526200-44527400	Active TSS	Brain Cingulate Gyrus	brain
22	chr18:44526200-44527400	Active TSS	Brain Hippocampus Middle	brain
23	chr18:44526200-44527400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:44526200-44527400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr18:44526200-44527400	Active TSS	Rectal Smooth Muscle	rectum
26	chr18:44526200-44527600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr18:44526200-44527600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:44526200-44527600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr18:44526200-44527600	Active TSS	Fetal Kidney	kidney
30	chr18:44526200-44527600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr18:44526400-44526800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:44526400-44526800	Active TSS	Fetal Muscle Trunk	muscle
33	chr18:44526400-44526800	Flanking Active TSS	Fetal Thymus	thymus
34	chr18:44526400-44526800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr18:44526400-44527000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr18:44526400-44527000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr18:44526400-44527000	Active TSS	Right Atrium	heart
38	chr18:44526400-44527000	Active TSS	Right Ventricle	heart
39	chr18:44526400-44527000	Active TSS	Thymus	Thymus
40	chr18:44526400-44527200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:44526400-44527200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:44526400-44527200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr18:44526400-44527200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:44526400-44527200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:44526400-44527200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:44526400-44527200	Active TSS	Colon Smooth Muscle	Colon
47	chr18:44526400-44527200	Active TSS	Stomach Mucosa	stomach
48	chr18:44526400-44527400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:44526400-44527400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:44526400-44527400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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