Variant report

Variant	rs1333865
Chromosome Location	chr9:86323596-86323597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:86321937-86323778	GM12892	blood:	n/a	n/a
2	NRF1	chr9:86323039-86323837	Hela-S3	cervix:	n/a	chr9:86323201-86323215 chr9:86323204-86323215 chr9:86323635-86323649 chr9:86323204-86323218 chr9:86323204-86323215 chr9:86323206-86323215
3	POLR2A	chr9:86321734-86323825	GM18505	blood:	n/a	n/a
4	ELF1	chr9:86321958-86323757	GM12878	blood:	n/a	chr9:86323191-86323203 chr9:86322669-86322681 chr9:86322596-86322608 chr9:86322602-86322614 chr9:86322605-86322617 chr9:86322356-86322368 chr9:86322607-86322616 chr9:86322601-86322610 chr9:86322858-86322871 chr9:86322604-86322613
5	FOS	chr9:86322391-86323636	HUVEC	blood vessel:	n/a	chr9:86322616-86322626 chr9:86322616-86322626 chr9:86322617-86322625 chr9:86323146-86323155
6	MAFF	chr9:86322860-86323670	HepG2	liver:	n/a	n/a
7	NFIC	chr9:86322489-86323764	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:86321978-86324091	GM19099	blood:	n/a	n/a
9	ATF2	chr9:86322696-86323703	H1-hESC	embryonic stem cell:	n/a	chr9:86323143-86323157
10	POLR2A	chr9:86322157-86324113	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr9:86322903-86324110	A549	lung:	n/a	chr9:86323922-86323933 chr9:86323920-86323933 chr9:86323922-86323931 chr9:86323863-86323871
12	POLR2A	chr9:86323082-86323628	HepG2	liver:	n/a	n/a
13	TAF1	chr9:86322357-86323727	K562	blood:	n/a	n/a
14	MYC	chr9:86323507-86323721	HepG2	liver:	n/a	n/a
15	CTCF	chr9:86323542-86323682	SK-N-SH_RA	brain:	n/a	chr9:86323610-86323623
16	CEBPD	chr9:86323163-86323600	HepG2	liver:	n/a	n/a
17	JUND	chr9:86322078-86324009	H1-hESC	embryonic stem cell:	n/a	chr9:86322616-86322626 chr9:86323857-86323866 chr9:86322616-86322626 chr9:86322617-86322625 chr9:86323146-86323155
18	JUND	chr9:86322470-86324242	K562	blood:	n/a	chr9:86322616-86322626 chr9:86323857-86323866 chr9:86322616-86322626 chr9:86322617-86322625 chr9:86323146-86323155
19	CTCF	chr9:86323543-86323789	Spleen_OC	spleen:	n/a	chr9:86323610-86323623
20	RAD21	chr9:86323535-86323685	K562	blood:	n/a	n/a
21	CTCF	chr9:86323548-86323754	GM13977	blood:	n/a	chr9:86323610-86323623
22	ZNF217	chr9:86322786-86323728	MCF-7	breast:	n/a	n/a
23	POLR2A	chr9:86322052-86323878	GM12878	blood:	n/a	n/a
24	CUX1	chr9:86322815-86324113	K562	blood:	n/a	n/a
25	CTCF	chr9:86323563-86323683	Kidney_OC	kidney:	n/a	chr9:86323610-86323623
26	CTCF	chr9:86323492-86323755	MCF-7	breast:	n/a	chr9:86323610-86323623
27	TAF1	chr9:86321880-86323758	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr9:86322536-86323631	PFSK-1	brain:	n/a	n/a
29	GTF2F1	chr9:86322515-86323610	K562	blood:	n/a	n/a
30	CTCF	chr9:86323520-86323670	HCPEpiC	choroid plexus:	n/a	chr9:86323610-86323623
31	MAFK	chr9:86322770-86323639	HepG2	liver:	n/a	chr9:86323518-86323528
32	TBL1XR1	chr9:86322768-86323762	K562	blood:	n/a	n/a
33	CTCF	chr9:86323540-86323690	HUVEC	blood vessel:	n/a	chr9:86323610-86323623
34	RAD21	chr9:86323444-86323755	GM12878	blood:	n/a	n/a
35	CTCF	chr9:86323560-86323710	GM12871	blood:	n/a	chr9:86323610-86323623
36	CEBPB	chr9:86322814-86324184	A549	lung:	n/a	chr9:86323922-86323933 chr9:86323920-86323933 chr9:86323922-86323931 chr9:86323863-86323871
37	IRF1	chr9:86322654-86323638	K562	blood:	n/a	n/a
38	RAD21	chr9:86323427-86323747	GM12878	blood:	n/a	n/a
39	PBX3	chr9:86322564-86323710	A549	lung:	n/a	chr9:86322838-86322858
40	MYC	chr9:86322263-86323760	K562	blood:	n/a	chr9:86322881-86322890
41	MYC	chr9:86321981-86323936	NB4	blood:	n/a	chr9:86322881-86322890 chr9:86322045-86322055
42	MAX	chr9:86322419-86323763	MCF-7	breast:	n/a	chr9:86322881-86322890
43	CTCF	chr9:86323580-86323730	HMF	breast:	n/a	chr9:86323610-86323623
44	POLR2A	chr9:86322088-86323759	K562	blood:	n/a	n/a
45	CTCF	chr9:86323540-86323690	AG09319	gingival:	n/a	chr9:86323610-86323623
46	TEAD4	chr9:86322463-86323795	ECC-1	luminal epithelium:	n/a	n/a
47	TCF12	chr9:86322383-86323753	A549	lung:	n/a	n/a
48	MAFK	chr9:86322738-86323704	K562	blood:	n/a	chr9:86323518-86323528
49	STAT5A	chr9:86323149-86323687	GM12878	blood:	n/a	n/a
50	MAX	chr9:86322428-86323790	K562	blood:	n/a	chr9:86322881-86322890

No.	Distal block	Cell Line	Cell type
1	chr9:86283424..86286026-chr9:86321121..86323958,3	MCF-7	breast:
2	chr9:86321555..86324208-chr9:86431445..86433817,2	MCF-7	breast:
3	chr9:85832727..85836639-chr9:86319596..86323973,3	MCF-7	breast:
4	chr9:86298986..86303456-chr9:86320609..86324425,4	MCF-7	breast:
5	chr9:86319810..86324349-chr9:86592631..86598226,6	K562	blood:
6	chr5:137799025..137801326-chr9:86321892..86324077,2	MCF-7	breast:
7	chr9:86321469..86324662-chr9:86431245..86433854,3	MCF-7	breast:
8	chr9:86300840..86303166-chr9:86321097..86323645,3	K562	blood:
9	chr9:80644449..80646704-chr9:86322574..86325176,2	MCF-7	breast:
10	chr12:53297339..53299437-chr9:86322431..86324118,2	MCF-7	breast:
11	chr17:56735418..56737039-chr9:86321454..86323856,2	MCF-7	breast:
12	chr17:56737660..56739734-chr9:86322211..86324865,2	MCF-7	breast:
13	chr9:86321248..86324502-chr9:86534491..86537588,5	MCF-7	breast:
14	chr9:86236918..86239524-chr9:86322198..86323756,2	K562	blood:
15	chr9:86320289..86324589-chr9:86593742..86599530,6	K562	blood:
16	chr9:86320718..86323719-chr9:86450162..86455199,6	MCF-7	breast:
17	chr9:86321607..86323730-chr9:86445405..86447358,2	MCF-7	breast:
18	chr9:86236280..86241962-chr9:86320992..86325340,9	MCF-7	breast:

Variant related genes	Relation type
UBQLN1	TF binding region
ENSG00000156052	Chromatin interaction
ENSG00000266826	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000120738	Chromatin interaction
ENSG00000135018	Chromatin interaction
ENSG00000231616	Chromatin interaction
ENSG00000226877	Chromatin interaction
ENSG00000229109	Chromatin interaction
ENSG00000165115	Chromatin interaction
ENSG00000148057	Chromatin interaction
ENSG00000165113	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10115799	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10119344	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10125432	1.00[ASW][hapmap];1.00[CEU][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];0.96[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1035274	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044175	1.00[ASW][hapmap];1.00[CEU][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];0.96[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10746718	1.00[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs10746719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746720	1.00[ASW][hapmap];1.00[CEU][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];0.96[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746721	1.00[ASW][hapmap];0.96[CEU][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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10780621	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10868040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868044	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10868045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11140198	0.85[CHB][hapmap]
rs11140209	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs11791175	0.85[CHB][hapmap]
rs1333863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1360685	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1413293	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1537503	0.85[CHB][hapmap]
rs1572135	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1889260	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1961952	0.84[EUR][1000 genomes]
rs1968216	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042042	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058912	1.00[ASW][hapmap];1.00[CEU][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];0.96[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2542775	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2542776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2542803	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780969	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2780972	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2780975	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2780982	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2780995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2780997	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780998	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2780999	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781000	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2781001	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2781003	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811909	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2811919	0.89[ASN][1000 genomes]
rs2811921	0.85[CHB][hapmap]
rs2811922	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811923	1.00[ASW][hapmap];1.00[CEU][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];0.93[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811924	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2811925	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811929	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2811931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4146741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4242623	1.00[ASW][hapmap];1.00[CEU][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];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454364	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs4877263	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4877796	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs4877798	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6559737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6559739	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7023082	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7039019	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7469301	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7850944	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7860614	0.82[ASN][1000 genomes]
rs7863266	0.81[ASN][1000 genomes]
rs7865296	1.00[ASW][hapmap];1.00[CEU][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];0.96[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874980	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs944946	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs961807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044639	chr9:86252505-86412041	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS 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 target site	21 gene(s)	inside rSNPs	diseases
2	nsv893513	chr9:86298632-86433459	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1333865	GKAP1	cis	cerebellum	SCAN
rs1333865	UBQLN1	cis	parietal	SCAN
rs1333865	UBQLN1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86318000-86324000	Active TSS	GM12878-XiMat	blood
2	chr9:86320200-86323800	Active TSS	K562	blood
3	chr9:86320400-86323800	Active TSS	Psoas Muscle	Psoas
4	chr9:86320400-86324000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:86320600-86324000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr9:86320600-86324000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr9:86320800-86323600	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr9:86320800-86323800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr9:86320800-86323800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:86320800-86323800	Active TSS	Ovary	ovary
11	chr9:86320800-86323800	Active TSS	Right Atrium	heart
12	chr9:86320800-86323800	Active TSS	Right Ventricle	heart
13	chr9:86320800-86323800	Active TSS	HMEC	breast
14	chr9:86320800-86323800	Active TSS	NHDF-Ad	bronchial
15	chr9:86320800-86324000	Active TSS	NHLF	lung
16	chr9:86320800-86324200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:86320800-86324200	Active TSS	A549	lung
18	chr9:86321000-86323600	Active TSS	Placenta	Placenta
19	chr9:86321000-86323600	Active TSS	HSMMtube	muscle
20	chr9:86321000-86323800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr9:86321000-86323800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:86321000-86323800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:86321000-86323800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:86321000-86323800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:86321000-86323800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:86321000-86323800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr9:86321000-86323800	Active TSS	Brain Germinal Matrix	brain
28	chr9:86321000-86323800	Active TSS	Fetal Thymus	thymus
29	chr9:86321000-86324000	Active TSS	Fetal Brain Female	brain
30	chr9:86321000-86324200	Active TSS	Stomach Smooth Muscle	stomach
31	chr9:86321200-86323600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr9:86321200-86323600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr9:86321200-86323600	Active TSS	Liver	Liver
34	chr9:86321200-86323600	Active TSS	Fetal Muscle Leg	muscle
35	chr9:86321200-86323600	Active TSS	Thymus	Thymus
36	chr9:86321200-86323800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:86321200-86323800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:86321200-86323800	Active TSS	Colonic Mucosa	Colon
39	chr9:86321200-86323800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr9:86321200-86323800	Active TSS	Fetal Intestine Large	intestine
41	chr9:86321200-86323800	Active TSS	Fetal Intestine Small	intestine
42	chr9:86321200-86323800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr9:86321200-86323800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr9:86321200-86324000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr9:86321200-86324000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr9:86321200-86324000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:86321200-86324000	Active TSS	Brain Angular Gyrus	brain
48	chr9:86321200-86324000	Active TSS	HSMM	muscle
49	chr9:86321200-86324200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:86321400-86323600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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