Variant report

Variant	rs10123342
Chromosome Location	chr9:95087824-95087825
allele	G/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	TAF1	chr9:95087297-95088409	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr9:95087605-95088647	HepG2	liver:	n/a	n/a
3	ATF3	chr9:95087798-95088000	GM12878	blood:	n/a	n/a
4	KAP1	chr9:95087244-95088486	U2OS	brain:	n/a	n/a
5	POLR2A	chr9:95087293-95088658	H1-neurons	neurons:	n/a	n/a
6	ARID3A	chr9:95087353-95088612	HepG2	liver:	n/a	n/a
7	ELF1	chr9:95087373-95088045	HepG2	liver:	n/a	n/a
8	BATF	chr9:95087520-95087830	GM12878	blood:	n/a	n/a
9	USF1	chr9:95087275-95088303	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3AK20	chr9:95087075-95088715	MCF-7	breast:	n/a	n/a
11	GATA3	chr9:95087350-95088493	MCF-7	breast:	n/a	n/a
12	ATF2	chr9:95087366-95088268	GM12878	blood:	n/a	n/a
13	GABPA	chr9:95087243-95088440	A549	lung:	n/a	n/a
14	USF2	chr9:95087425-95088246	K562	blood:	n/a	chr9:95087632-95087643
15	FOXM1	chr9:95087420-95088433	GM12878	blood:	n/a	n/a
16	JUND	chr9:95087390-95088434	A549	lung:	n/a	chr9:95087732-95087741 chr9:95088151-95088160
17	JUN	chr9:95087395-95088304	K562	blood:	n/a	chr9:95087732-95087741 chr9:95088151-95088160
18	GABPA	chr9:95087518-95087989	HepG2	liver:	n/a	n/a
19	E2F1	chr9:95087469-95088624	Hela-S3	cervix:	n/a	chr9:95088147-95088159
20	SP1	chr9:95087178-95088590	HCT-116	colon:	n/a	chr9:95088149-95088163
21	EP300	chr9:95087541-95088290	H1-hESC	embryonic stem cell:	n/a	chr9:95087734-95087743 chr9:95087974-95087990 chr9:95087730-95087744
22	TBP	chr9:95087305-95088399	H1-hESC	embryonic stem cell:	n/a	n/a
23	E2F6	chr9:95087364-95088497	A549	lung:	n/a	chr9:95088147-95088159 chr9:95088146-95088157
24	POLR2A	chr9:95087292-95088566	GM12878	blood:	n/a	n/a
25	ELF1	chr9:95087204-95088412	HCT-116	colon:	n/a	n/a
26	REST	chr9:95087272-95087898	H1-neurons	neurons:	n/a	n/a
27	MAX	chr9:95087168-95088484	SK-N-SH	brain:	n/a	chr9:95087634-95087643 chr9:95087634-95087643 chr9:95087632-95087645 chr9:95087633-95087644
28	POLR2A	chr9:95087380-95088467	HCT-116	colon:	n/a	n/a
29	GABPA	chr9:95087286-95088323	SK-N-SH	brain:	n/a	n/a
30	REST	chr9:95087086-95088596	H1-neurons	neurons:	n/a	chr9:95088146-95088159
31	MAX	chr9:95087262-95088287	H1-hESC	embryonic stem cell:	n/a	chr9:95087634-95087643 chr9:95087634-95087643 chr9:95087632-95087645 chr9:95087633-95087644
32	POLR2A	chr9:95087073-95088759	K562	blood:	n/a	n/a
33	TBP	chr9:95087405-95088280	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:95087282-95088697	ProgFib	skin:	n/a	n/a
35	POLR2A	chr9:95087243-95088644	K562	blood:	n/a	n/a
36	POLR2A	chr9:95086763-95088484	GM12878	blood:	n/a	n/a
37	MAX	chr9:95087197-95088446	A549	lung:	n/a	chr9:95087634-95087643 chr9:95087634-95087643 chr9:95087632-95087645 chr9:95087633-95087644
38	TAF1	chr9:95087360-95087994	PFSK-1	brain:	n/a	n/a
39	MYBL2	chr9:95087241-95088363	HepG2	liver:	n/a	n/a
40	POLR2A	chr9:95086838-95088623	SK-N-MC	brain:	n/a	n/a
41	POLR2A	chr9:95087258-95088431	GM12891	blood:	n/a	n/a
42	ETS1	chr9:95087275-95087858	K562	blood:	n/a	chr9:95087774-95087785
43	MYC	chr9:95086832-95088732	NB4	blood:	n/a	chr9:95087634-95087643 chr9:95087634-95087643 chr9:95087632-95087645 chr9:95087633-95087644
44	MAX	chr9:95087020-95088754	A549	lung:	n/a	chr9:95087634-95087643 chr9:95087634-95087643 chr9:95087632-95087645 chr9:95087633-95087644
45	POLR2A	chr9:95087399-95088454	HepG2	liver:	n/a	n/a
46	SIN3A	chr9:95087032-95088796	H1-hESC	embryonic stem cell:	n/a	chr9:95087951-95087962 chr9:95088416-95088429 chr9:95087915-95087924
47	CHD2	chr9:95087479-95088343	K562	blood:	n/a	n/a
48	GABPA	chr9:95087234-95088310	A549	lung:	n/a	n/a
49	MYC	chr9:95087236-95088642	K562	blood:	n/a	chr9:95087634-95087643 chr9:95087634-95087643 chr9:95087632-95087645 chr9:95087633-95087644
50	TEAD4	chr9:95087409-95088242	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:27858753..27860942-chr9:95086192..95088682,2	K562	blood:
2	chr5:32443932..32444890-chr9:95087130..95088014,2	Hela-S3	cervix:
3	chr9:95086140..95089391-chr9:95526124..95530104,3	K562	blood:
4	chr19:40931449..40932348-chr9:95087141..95087942,2	Hela-S3	cervix:
5	chr9:95052267..95059743-chr9:95085805..95090654,23	MCF-7	breast:
6	chr9:95052930..95062724-chr9:95083607..95090664,16	MCF-7	breast:
7	chr1:245133110..245134027-chr9:95087359..95087933,2	Hela-S3	cervix:
8	chr9:94898906..94903668-chr9:95086648..95090271,5	MCF-7	breast:
9	chr9:95086363..95089965-chr9:95430183..95433166,4	MCF-7	breast:
10	chr1:59249779..59250379-chr9:95087142..95087891,2	Hela-S3	cervix:
11	chr9:94875796..94880000-chr9:95086097..95090720,4	MCF-7	breast:
12	chr3:170587339..170588313-chr9:95087804..95088646,2	NB4	blood:
13	chr9:95047794..95051016-chr9:95086583..95089412,4	K562	blood:
14	chr9:95067956..95071804-chr9:95086365..95090444,6	K562	blood:
15	chr9:95051112..95065542-chr9:95079443..95091389,38	K562	blood:
16	chr9:95086147..95089104-chr9:95166950..95169643,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IARS-1	chr9:95087588-95087876	NR_046106

Variant related genes	Relation type
NOL8	TF binding region
ENSG00000177606	Chromatin interaction
ENSG00000203666	Chromatin interaction
ENSG00000225511	Chromatin interaction
ENSG00000056097	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000196305	Chromatin interaction
ENSG00000185963	Chromatin interaction
ENSG00000239183	Chromatin interaction
ENSG00000198000	Chromatin interaction
ENSG00000163584	Chromatin interaction
ENSG00000090054	Chromatin interaction
ENSG00000106809	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000197153	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs10115222	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10116241	0.91[CEU][hapmap];0.80[MEX][hapmap]
rs10116813	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119535	0.82[GIH][hapmap]
rs10120980	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10121495	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10125474	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283572	0.91[CEU][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs10429459	0.88[ASW][hapmap];0.87[CEU][hapmap];0.91[YRI][hapmap]
rs10453241	0.92[CEU][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs10514815	0.88[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.91[YRI][hapmap]
rs1053441	0.91[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs1053446	0.92[CEU][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes]
rs10739927	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs10739928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761147	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761150	0.94[ASW][hapmap];1.00[CEU][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];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761151	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10761153	0.88[EUR][1000 genomes]
rs10761154	0.91[CEU][hapmap];0.95[YRI][hapmap];0.83[EUR][1000 genomes]
rs10761155	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap];0.95[ASN][1000 genomes]
rs10761158	0.88[ASW][hapmap];0.87[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.91[YRI][hapmap]
rs10761160	0.95[ASN][1000 genomes]
rs10820960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820961	1.00[ASW][hapmap];1.00[CEU][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];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820963	0.82[GIH][hapmap]
rs10820964	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs10820965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820967	0.94[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820968	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820969	0.92[CEU][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10820971	0.91[CEU][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes]
rs10820980	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs10992273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992280	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992291	0.88[EUR][1000 genomes]
rs10992303	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992304	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992319	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992322	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.88[LWK][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10992340	0.81[EUR][1000 genomes]
rs10992347	0.87[CEU][hapmap];0.80[JPT][hapmap];0.91[YRI][hapmap]
rs10992349	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs1121978	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs1121979	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1133908	0.90[EUR][1000 genomes]
rs11788511	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11788523	0.92[ASN][1000 genomes]
rs11790258	0.93[CHD][hapmap]
rs11791001	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11792019	0.95[ASN][1000 genomes]
rs11792342	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792916	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs11794346	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.92[ASN][1000 genomes]
rs12336415	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs12336884	0.90[ASN][1000 genomes]
rs12338938	0.82[CEU][hapmap]
rs12341817	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs12342019	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs12343820	0.83[CEU][hapmap];0.91[YRI][hapmap]
rs12353096	0.88[EUR][1000 genomes]
rs13301537	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs1380	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1447114	0.82[GIH][hapmap]
rs1535754	0.88[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.91[YRI][hapmap]
rs1535756	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs1924243	0.80[JPT][hapmap];0.91[YRI][hapmap]
rs1980848	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs2007837	0.82[EUR][1000 genomes]
rs2025388	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2151618	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2273862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274966	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[TSI][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs2295941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296666	0.94[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[YRI][hapmap]
rs2296667	0.92[CEU][hapmap];0.80[LWK][hapmap];0.81[TSI][hapmap];0.91[YRI][hapmap]
rs2516567	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.82[EUR][1000 genomes]
rs2516568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2761677	0.98[ASN][1000 genomes]
rs2761678	1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2761679	0.82[EUR][1000 genomes]
rs2761681	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3739606	0.88[ASW][hapmap];0.87[CEU][hapmap];0.91[YRI][hapmap]
rs3758229	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780345	0.80[ASN][1000 genomes]
rs3824424	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs4743873	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.92[ASN][1000 genomes]
rs4744133	0.88[ASW][hapmap];0.87[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.91[YRI][hapmap]
rs4744134	0.92[CEU][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs4744135	0.94[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[YRI][hapmap]
rs4744136	0.88[ASW][hapmap];0.92[CEU][hapmap];0.83[LWK][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap]
rs6479416	0.90[EUR][1000 genomes]
rs6479417	0.92[CEU][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes]
rs6479418	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479419	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6479420	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6479422	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs7020874	0.88[ASW][hapmap];0.88[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7022562	0.88[ASW][hapmap];0.87[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.91[YRI][hapmap]
rs7023004	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7024190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7026361	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs7027595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7029879	0.83[ASN][1000 genomes]
rs7030920	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031567	0.94[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[YRI][hapmap]
rs7033979	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs7037075	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.86[LWK][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap]
rs7037194	0.88[ASW][hapmap];0.87[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.91[YRI][hapmap]
rs7040949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7043152	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045409	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7045451	0.85[EUR][1000 genomes]
rs7045572	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];1.00[ASN][1000 genomes]
rs7047089	0.92[CEU][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs710162	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs7847929	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7848055	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848472	1.00[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap]
rs7850432	0.88[ASW][hapmap];0.92[CEU][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7850528	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs7853859	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];0.81[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes]
rs7856204	0.84[EUR][1000 genomes]
rs7860786	0.94[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[YRI][hapmap]
rs7863406	0.92[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes]
rs7864630	0.88[ASW][hapmap];0.92[CEU][hapmap];0.86[LWK][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.96[YRI][hapmap]
rs7867909	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7868013	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs7869742	0.92[CEU][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap]
rs7872375	0.92[CEU][hapmap];0.80[JPT][hapmap];0.90[EUR][1000 genomes]
rs7873397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[ASN][1000 genomes]
rs7873932	0.92[CEU][hapmap];0.80[JPT][hapmap];0.90[EUR][1000 genomes]
rs8067	0.88[ASW][hapmap];0.92[CEU][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs927865	0.94[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[YRI][hapmap]
rs9299403	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9299404	0.88[ASW][hapmap];0.92[CEU][hapmap];0.80[JPT][hapmap];0.89[LWK][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.83[EUR][1000 genomes]
rs9299405	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap]
rs968040	0.94[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.85[CHD][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10123342	IPPK	cis	cerebellum	SCAN
rs10123342	NOL8	Cis_1M	lymphoblastoid	RTeQTL
rs10123342	ZNF484	cis	parietal	SCAN
rs10123342	CENPP	cis	cerebellum	SCAN
rs10123342	CENPP	cis	parietal	SCAN
rs10123342	IARS	cis	parietal	SCAN
rs10123342	ZNF484	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95086200-95088800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr9:95086200-95089200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr9:95086200-95089400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr9:95086200-95089400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:95086400-95088800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:95086400-95089200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:95086600-95088600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr9:95086600-95088800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:95086600-95089000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr9:95086600-95089000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr9:95086600-95089000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:95086600-95089000	Active TSS	Psoas Muscle	Psoas
13	chr9:95086600-95089200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:95086800-95088400	Active TSS	Esophagus	oesophagus
15	chr9:95086800-95088800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr9:95086800-95088800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:95086800-95088800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:95086800-95088800	Active TSS	Colonic Mucosa	Colon
19	chr9:95086800-95088800	Active TSS	Fetal Muscle Trunk	muscle
20	chr9:95086800-95088800	Active TSS	Ovary	ovary
21	chr9:95086800-95088800	Active TSS	Pancreas	Pancrea
22	chr9:95086800-95088800	Active TSS	Right Atrium	heart
23	chr9:95086800-95088800	Active TSS	Hela-S3	cervix
24	chr9:95086800-95089000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:95086800-95089200	Active TSS	GM12878-XiMat	blood
26	chr9:95086800-95089200	Active TSS	K562	blood
27	chr9:95086800-95089200	Active TSS	NHDF-Ad	bronchial
28	chr9:95086800-95089200	Active TSS	NHLF	lung
29	chr9:95086800-95089400	Active TSS	A549	lung
30	chr9:95087000-95088000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:95087000-95088400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:95087000-95088400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:95087000-95088400	Active TSS	Fetal Intestine Large	intestine
34	chr9:95087000-95088400	Active TSS	Stomach Mucosa	stomach
35	chr9:95087000-95088400	Active TSS	HUVEC	blood vessel
36	chr9:95087000-95088600	Active TSS	Muscle Satellite Cultured Cells	--
37	chr9:95087000-95088600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:95087000-95088600	Active TSS	Aorta	Aorta
39	chr9:95087000-95088600	Active TSS	Fetal Intestine Small	intestine
40	chr9:95087000-95088600	Active TSS	Gastric	stomach
41	chr9:95087000-95088600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr9:95087000-95088600	Active TSS	HMEC	breast
43	chr9:95087000-95088800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:95087000-95088800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:95087000-95088800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:95087000-95088800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:95087000-95088800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr9:95087000-95088800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:95087000-95088800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:95087000-95088800	ZNF genes & repeats	Fetal Brain Male	brain

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