Variant report

Variant	rs1047881
Chromosome Location	chr1:213031158-213031159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:365)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:213030786-213032031	GM12878	blood:	n/a	n/a
2	BCLAF1	chr1:213031065-213031792	GM12878	blood:	n/a	chr1:213031757-213031766 chr1:213031597-213031610
3	ZBTB7A	chr1:213030931-213032339	K562	blood:	n/a	n/a
4	JUND	chr1:213031147-213031805	A549	lung:	n/a	chr1:213031526-213031535 chr1:213031462-213031471
5	MAX	chr1:213031038-213031603	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:213031024-213031871	HUVEC	blood vessel:	n/a	n/a
7	GATA2	chr1:213030826-213031237	K562	blood:	n/a	n/a
8	TBL1XR1	chr1:213031030-213031772	K562	blood:	n/a	n/a
9	SIN3AK20	chr1:213030942-213032476	PANC-1	pancreas:	n/a	n/a
10	GATA3	chr1:213030775-213031342	MCF-7	breast:	n/a	n/a
11	POLR2A	chr1:213031027-213032759	MCF10A-Er-Src	breast:	n/a	n/a
12	TAF1	chr1:213030944-213031874	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr1:213031080-213031230	BJ	skin:	n/a	n/a
14	HDAC2	chr1:213030916-213031817	HepG2	liver:	n/a	n/a
15	ZNF384	chr1:213030549-213031823	K562	blood:	n/a	n/a
16	SIN3AK20	chr1:213031017-213031540	PANC-1	pancreas:	n/a	n/a
17	TAF1	chr1:213030865-213031797	K562	blood:	n/a	n/a
18	BACH1	chr1:213031013-213032131	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr1:213031060-213031210	HPAF	blood vessel:	n/a	n/a
20	POLR2A	chr1:213030857-213032406	GM18505	blood:	n/a	n/a
21	E2F4	chr1:213031044-213031784	MCF10A-Er-Src	breast:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
22	CTCF	chr1:213031100-213031250	BJ	skin:	n/a	n/a
23	UBTF	chr1:213030900-213032562	K562	blood:	n/a	n/a
24	RAD21	chr1:213031037-213031736	HepG2	liver:	n/a	n/a
25	MAX	chr1:213030940-213032497	SK-N-SH	brain:	n/a	chr1:213031632-213031639
26	CTCF	chr1:213031080-213031230	WERI-Rb-1	eye:	n/a	n/a
27	STAT5A	chr1:213030994-213031425	GM12878	blood:	n/a	n/a
28	CTCF	chr1:213031060-213031210	HCFaa	heart:	n/a	n/a
29	CTCF	chr1:213031040-213031190	HPAF	blood vessel:	n/a	n/a
30	POLR2A	chr1:213031007-213031769	HCT-116	colon:	n/a	n/a
31	POLR2A	chr1:213031139-213032523	MCF-7	breast:	n/a	n/a
32	HCFC1	chr1:213030774-213032525	Hela-S3	cervix:	n/a	n/a
33	USF2	chr1:213030948-213031422	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr1:213030966-213032442	HepG2	liver:	n/a	n/a
35	ZNF263	chr1:213030951-213032903	HEK293-T-REx	kidney:	n/a	chr1:213031610-213031619
36	POLR2A	chr1:213029909-213032745	GM12891	blood:	n/a	n/a
37	CREB1	chr1:213030803-213031879	A549	lung:	n/a	n/a
38	CTCF	chr1:213031120-213031270	HEEpiC	esophagus:	n/a	n/a
39	CCNT2	chr1:213031017-213032445	K562	blood:	n/a	n/a
40	POLR2A	chr1:213030952-213032496	GM12878	blood:	n/a	n/a
41	CHD2	chr1:213031004-213031839	HepG2	liver:	n/a	chr1:213031608-213031618 chr1:213031516-213031523
42	E2F6	chr1:213030992-213032473	A549	lung:	n/a	chr1:213031461-213031470 chr1:213031528-213031537 chr1:213031516-213031523
43	POLR2A	chr1:213030920-213031918	GM12892	blood:	n/a	n/a
44	POLR2A	chr1:213031123-213031854	PANC-1	pancreas:	n/a	n/a
45	TEAD4	chr1:213030852-213031670	HepG2	liver:	n/a	n/a
46	GATA3	chr1:213030830-213032386	A549	lung:	n/a	n/a
47	IRF1	chr1:213031051-213031750	K562	blood:	n/a	chr1:213031569-213031583 chr1:213031528-213031537
48	HMGN3	chr1:213031099-213032548	K562	blood:	n/a	n/a
49	POLR2A	chr1:213030858-213032515	GM12892	blood:	n/a	n/a
50	POLR2A	chr1:213030919-213032607	HL-60	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213026064..213028809-chr1:213029690..213032627,2	K562	blood:
2	chr1:213025871..213028763-chr1:213030169..213033277,3	MCF-7	breast:
3	chr1:213025489..213028696-chr1:213029248..213033184,3	K562	blood:
4	chr1:212779176..212786217-chr1:213030148..213034937,8	K562	blood:
5	chr1:212977806..212980707-chr1:213030715..213033244,2	K562	blood:
6	chr1:213030101..213032938-chr1:213186047..213190102,3	K562	blood:
7	chr1:213019184..213021421-chr1:213029036..213031526,2	K562	blood:
8	chr1:212965176..212966735-chr1:213030010..213031816,2	K562	blood:
9	chr1:212963280..212966676-chr1:213030010..213031803,4	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468
2	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468
3	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468
4	lnc-C1orf227-1	chr1:213031108-213031452	XLOC_001197
5	lnc-C1orf227-1	chr1:213031108-213031480	XLOC_001197
6	lnc-C1orf227-1	chr1:213031108-213031430	ENSG00000198468.3
7	lnc-C1orf227-1	chr1:213031108-213031480	NONHSAT009410
8	lnc-C1orf227-1	chr1:213031108-213031480	NONHSAT009411

No data

Variant related genes	Relation type
FLVCR1	TF binding region
ENSG00000236317	TF binding region
ENSG00000174606	Chromatin interaction
ENSG00000235182	Chromatin interaction
ENSG00000162772	Chromatin interaction
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction
ENSG00000236317	Chromatin interaction
ENSG00000185523	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10746439	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779585	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779586	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779587	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]
rs10779588	0.94[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10779589	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10779590	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10779591	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10779592	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779593	0.92[AFR][1000 genomes]
rs10779595	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864004	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10864007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10864009	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864010	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10864015	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864016	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10864018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10864020	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10864022	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10902	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs11120042	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120043	0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs11120047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120049	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11120050	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120053	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11120054	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120055	0.93[ASN][1000 genomes]
rs11120056	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120059	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120060	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11120064	0.88[ASN][1000 genomes]
rs11803450	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11806446	0.95[ASN][1000 genomes]
rs11808574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12022540	0.97[ASN][1000 genomes]
rs12023052	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12030572	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12031546	0.94[ASN][1000 genomes]
rs12036698	0.94[ASN][1000 genomes]
rs12040103	0.94[ASN][1000 genomes]
rs12042181	0.87[CHB][hapmap];0.93[CHD][hapmap]
rs12043346	0.96[ASN][1000 genomes]
rs12043852	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12048942	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12069595	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12118361	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122682	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12123978	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12125982	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12136117	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12140831	0.81[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12404754	0.90[GIH][hapmap]
rs12565125	0.87[ASN][1000 genomes]
rs12566087	0.94[ASN][1000 genomes]
rs12567713	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs12567728	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs12731517	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12735221	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12744746	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12756625	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1284860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1472342	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1587174	0.93[ASN][1000 genomes]
rs17019818	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17019870	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs17019873	0.93[ASN][1000 genomes]
rs1874416	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874417	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874418	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874420	0.86[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1890932	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2047287	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2132431	0.99[ASN][1000 genomes]
rs2172983	0.92[ASN][1000 genomes]
rs2185487	0.92[ASN][1000 genomes]
rs2201602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2201603	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2220949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2279692	0.88[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291771	0.94[ASN][1000 genomes]
rs2291772	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2291773	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2497959	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2644548	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs3207090	0.88[GIH][hapmap]
rs3768548	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3768550	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768551	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41296726	0.94[ASN][1000 genomes]
rs41297446	0.96[ASN][1000 genomes]
rs41300993	0.94[ASN][1000 genomes]
rs41301027	0.93[ASN][1000 genomes]
rs4951465	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951466	0.94[ASN][1000 genomes]
rs4951470	0.95[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs4951472	0.92[ASN][1000 genomes]
rs4951644	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4951645	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4951646	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4951647	0.94[ASN][1000 genomes]
rs4951653	0.82[ASN][1000 genomes]
rs55793082	0.91[ASN][1000 genomes]
rs56178110	0.94[ASN][1000 genomes]
rs6540769	0.90[CHB][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6657416	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6659996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6664909	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6666167	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6666277	0.82[CHB][hapmap]
rs6666356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6666368	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6685877	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6697428	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700342	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703156	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72743967	0.94[ASN][1000 genomes]
rs72743981	0.93[ASN][1000 genomes]
rs72743991	0.88[ASN][1000 genomes]
rs72743993	0.86[ASN][1000 genomes]
rs7512393	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7516718	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7516817	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7519166	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7522693	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7522877	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7524203	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7528505	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7530561	0.93[ASN][1000 genomes]
rs7531073	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7534973	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7536716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7538797	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7544198	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7544567	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7544645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963328	0.94[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9787376	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv998261	chr1:213029814-213064209	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs1047881	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs1047881	LQK1	cis	uninvolved skin	skin_eQTL
rs1047881	LQK1	cis	normal skin	skin_eQTL
rs1047881	FLVCR	cis	multi-tissue	Pritchard
rs1047881	FLVCR1-AS1	cis	Nerve Tibial	GTEx
rs1047881	FLVCR1-AS1	cis	Artery Aorta	GTEx
rs1047881	FLVCR1-AS1	cis	Whole Blood	GTEx
rs1047881	LQK1	cis	lesional skin	skin_eQTL
rs1047881	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs1047881	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx
rs1047881	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL
rs1047881	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs1047881	FLVCR1-AS1	cis	Artery Tibial	GTEx
rs1047881	LQK1	cis	parietal	SCAN
rs1047881	FLVCR1-AS1	cis	Thyroid	GTEx
rs1047881	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs1047881	VASH2	Cis_1M	lymphoblastoid	RTeQTL
rs1047881	FLVCR1-AS1	cis	lung	GTEx
rs1047881	LQK1	cis	cerebellum	SCAN
rs1047881	NSL1	Cis_1M	lymphoblastoid	RTeQTL
rs1047881	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs1047881	NCRNA00292	cis	lymphoblastoid	seeQTL
rs1047881	FLVCR1-AS1	cis	Muscle Skeletal	GTEx
rs1047881	FLVCR1	cis	multi-tissue	Pritchard
rs1047881	FLVCR1-AS1	cis	Stomach	GTEx
rs1047881	NSL1	cis	lymphoblastoid	seeQTL
rs1047881	FLVCR1	cis	lymphoblastoid	seeQTL
rs1047881	C1orf227	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213029600-213033200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:213029600-213033400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:213029800-213032000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:213030000-213031200	Flanking Active TSS	Dnd41	blood
5	chr1:213030000-213032800	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:213030200-213031200	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr1:213030400-213031200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:213030400-213031200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr1:213030400-213031200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr1:213030400-213031200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:213030400-213031200	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr1:213030400-213031200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr1:213030400-213031200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr1:213030400-213031200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr1:213030400-213031200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr1:213030400-213031400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:213030400-213031800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:213030400-213032200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:213030400-213032200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:213030400-213033400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:213030400-213034000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:213030400-213034000	Active TSS	HSMM	muscle
23	chr1:213030400-213034600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:213030400-213035600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:213030600-213031200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr1:213030600-213031200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr1:213030600-213031200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr1:213030600-213031200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr1:213030600-213031200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr1:213030600-213031200	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr1:213030600-213031200	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr1:213030600-213031200	Flanking Active TSS	Placenta	Placenta
33	chr1:213030600-213031200	Flanking Active TSS	HUVEC	blood vessel
34	chr1:213030600-213031400	Flanking Active TSS	Fetal Thymus	thymus
35	chr1:213030600-213031400	Active TSS	Right Atrium	heart
36	chr1:213030600-213032000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:213030600-213032000	Active TSS	HMEC	breast
38	chr1:213030600-213032200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:213030600-213032200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:213030600-213032200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:213030600-213032200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:213030600-213032200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr1:213030600-213032200	Active TSS	Right Ventricle	heart
44	chr1:213030600-213033000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:213030600-213033200	Active TSS	A549	lung
46	chr1:213030600-213033800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr1:213030600-213034000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:213030600-213034000	Active TSS	GM12878-XiMat	blood
49	chr1:213030600-213034400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:213030600-213035000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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