Variant report

Variant	rs2280406
Chromosome Location	chr3:49941436-49941437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:183)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49941174-49941668	GM12878	blood:	n/a	n/a
2	MAZ	chr3:49941124-49941682	Hela-S3	cervix:	n/a	n/a
3	UBTF	chr3:49941206-49941694	K562	blood:	n/a	n/a
4	POLR2A	chr3:49941078-49941465	MCF10A-Er-Src	breast:	n/a	n/a
5	MYC	chr3:49941329-49941572	K562	blood:	n/a	n/a
6	E2F6	chr3:49941109-49941617	K562	blood:	n/a	n/a
7	MAX	chr3:49940085-49941672	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr3:49941139-49941493	Hela-S3	cervix:	n/a	n/a
9	ELK1	chr3:49941340-49941540	K562	blood:	n/a	n/a
10	HDAC2	chr3:49941228-49941568	K562	blood:	n/a	n/a
11	MAX	chr3:49941022-49941832	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr3:49941036-49941715	PANC-1	pancreas:	n/a	n/a
13	CTCF	chr3:49941302-49941631	K562	blood:	n/a	n/a
14	POLR2A	chr3:49941174-49941552	A549	lung:	n/a	n/a
15	RAD21	chr3:49941120-49941694	H1-hESC	embryonic stem cell:	n/a	chr3:49941656-49941669
16	YY1	chr3:49941086-49941573	GM12892	blood:	n/a	chr3:49941263-49941274
17	POLR2A	chr3:49939501-49941825	HCT-116	colon:	n/a	n/a
18	GTF2F1	chr3:49941345-49941706	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr3:49941165-49941540	A549	lung:	n/a	n/a
20	MAX	chr3:49940872-49941771	A549	lung:	n/a	n/a
21	MYC	chr3:49941076-49942267	K562	blood:	n/a	n/a
22	BHLHE40	chr3:49941304-49941498	HepG2	liver:	n/a	n/a
23	TAF1	chr3:49941043-49941643	ECC-1	luminal epithelium:	n/a	n/a
24	SP1	chr3:49941135-49941689	A549	lung:	n/a	chr3:49941581-49941595 chr3:49941214-49941227 chr3:49941403-49941414
25	TBP	chr3:49941130-49941696	K562	blood:	n/a	n/a
26	TBP	chr3:49941158-49941670	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr3:49941290-49941656	A549	lung:	n/a	n/a
28	EP300	chr3:49941231-49941771	T-47D	breast:	n/a	n/a
29	TCF3	chr3:49941230-49941631	GM12878	blood:	n/a	n/a
30	RCOR1	chr3:49941070-49941697	K562	blood:	n/a	n/a
31	RFX5	chr3:49940738-49941654	Hela-S3	cervix:	n/a	n/a
32	MAX	chr3:49941159-49941613	A549	lung:	n/a	n/a
33	RAD21	chr3:49941326-49941616	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr3:49941091-49941657	H1-hESC	embryonic stem cell:	n/a	n/a
35	HEY1	chr3:49941136-49941755	K562	blood:	n/a	n/a
36	EP300	chr3:49941270-49941514	K562	blood:	n/a	n/a
37	MTA3	chr3:49941320-49941804	GM12878	blood:	n/a	n/a
38	POLR2A	chr3:49941197-49941528	MCF-7	breast:	n/a	n/a
39	POLR2A	chr3:49939484-49941805	Hela-S3	cervix:	n/a	n/a
40	ZEB1	chr3:49941093-49941718	GM12878	blood:	n/a	n/a
41	POLR2A	chr3:49941401-49941660	PBDE	blood:	n/a	n/a
42	POLR2A	chr3:49941000-49942015	K562	blood:	n/a	n/a
43	YY1	chr3:49941165-49941532	HepG2	liver:	n/a	chr3:49941263-49941274
44	POLR2A	chr3:49941119-49941724	K562	blood:	n/a	n/a
45	TCF12	chr3:49940965-49941683	A549	lung:	n/a	n/a
46	MAX	chr3:49941093-49941744	MCF-7	breast:	n/a	n/a
47	ELF1	chr3:49941132-49941585	GM12878	blood:	n/a	chr3:49941418-49941431
48	ELK1	chr3:49941277-49941587	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr3:49941115-49941652	K562	blood:	n/a	n/a
50	MYC	chr3:49941263-49941658	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49941408-49941458	NHBE	bronchial:	n/a
2	chr3:49941416-49941466	GM19239	blood:	n/a
3	chr3:49941425-49941475	SKMC	muscle:	n/a
4	chr3:49941408-49941458	NB4	blood:	n/a
5	chr3:49941416-49941466	T-47D	breast:	n/a
6	chr3:49941408-49941458	HCPEpiC	choroid plexus:	n/a
7	chr3:49941408-49941458	AG04450	lung:	fetal
8	chr3:49941416-49941466	SK-N-SH	brain:	n/a
9	chr3:49941416-49941466	Caco-2	colon:	n/a
10	chr3:49941408-49941458	MCF-7	breast:	n/a
11	chr3:49941408-49941458	Hepatocyte	liver:	n/a
12	chr3:49941416-49941466	SKMC	muscle:	n/a
13	chr3:49941425-49941475	PFSK-1	brain:	n/a
14	chr3:49941416-49941466	H1-hESC	embryonic stem cell:	embryo
15	chr3:49941416-49941466	SAEC	small airway:	n/a
16	chr3:49941425-49941475	NHDF-neo	bronchial:	n/a
17	chr3:49941425-49941475	AoSMC	blood vessel:	n/a
18	chr3:49941416-49941466	HUVEC	blood vessel:	n/a
19	chr3:49941416-49941466	HCPEpiC	choroid plexus:	n/a
20	chr3:49941416-49941466	AG04449	skin:	fetal
21	chr3:49941416-49941466	AG10803	skin:	n/a
22	chr3:49941425-49941475	GM06990	blood:	n/a
23	chr3:49941416-49941466	HEK293	kidney:	embryo
24	chr3:49941416-49941466	U87	brain:	n/a
25	chr3:49941416-49941466	HCF	heart:	n/a
26	chr3:49941408-49941458	BE2_C	brain:	n/a
27	chr3:49941425-49941475	RPTEC	kidney:	n/a
28	chr3:49941408-49941458	SK-N-SH	brain:	n/a
29	chr3:49941416-49941466	Hepatocyte	liver:	n/a
30	chr3:49941425-49941475	A549	lung:	n/a
31	chr3:49941416-49941466	BJ	skin:	n/a
32	chr3:49941408-49941458	IMR90	lung:	fetal
33	chr3:49941416-49941466	HMEC	breast:	n/a
34	chr3:49941408-49941458	Caco-2	colon:	n/a
35	chr3:49941408-49941458	HMEC	breast:	n/a
36	chr3:49941425-49941475	NT2-D1	testis:	n/a
37	chr3:49941425-49941475	HRPEpiC	eye:	n/a
38	chr3:49941408-49941458	AG04449	skin:	fetal
39	chr3:49941416-49941466	MCF-7	breast:	n/a
40	chr3:49941416-49941466	ovcar-3	ovarian:	n/a
41	chr3:49941425-49941475	U87	brain:	n/a
42	chr3:49941425-49941475	GM12878	blood:	n/a
43	chr3:49941425-49941475	GM12892	blood:	n/a
44	chr3:49941416-49941466	ProgFib	skin:	n/a
45	chr3:49941425-49941475	CMK	blood:	n/a
46	chr3:49941408-49941458	ovcar-3	ovarian:	n/a
47	chr3:49941425-49941475	Caco-2	colon:	n/a
48	chr3:49941425-49941475	BJ	skin:	n/a
49	chr3:49941425-49941475	GM19239	blood:	n/a
50	chr3:49941408-49941458	AG09309	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:62609133..62609653-chr3:49940744..49941596,2	Hela-S3	cervix:
2	chr12:125401825..125402762-chr3:49940786..49941516,2	Hela-S3	cervix:
3	chr3:49940862..49941776-chrX:47003539..47004278,2	Hela-S3	cervix:
4	chr3:49940917..49941465-chrX:53111204..53111840,2	Hela-S3	cervix:
5	chr3:49891965..49895757-chr3:49941315..49943532,3	MCF-7	breast:
6	chr14:77923897..77924425-chr3:49940865..49941762,2	Hela-S3	cervix:
7	chr3:49876541..49879414-chr3:49940769..49943993,4	K562	blood:
8	chr1:167906381..167907020-chr3:49940786..49941506,2	Hela-S3	cervix:
9	chr3:49933351..49938041-chr3:49938966..49942332,9	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM6-4	chr3:49941315-49941523	NONHSAT089773
2	lnc-RBM6-4	chr3:49941278-49941523	NONHSAT089772

No data

Variant related genes	Relation type
MST1R	TF binding region
MST1R	CpG island
ENSG00000230698	Chromatin interaction
ENSG00000143164	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000183763	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000164078	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000184205	Chromatin interaction
ENSG00000151445	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10049087	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap]
rs1062633	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11130224	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11130226	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11130228	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130229	0.87[ASN][1000 genomes]
rs11130233	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11130234	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11709573	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11712056	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11713193	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11713562	0.82[ASN][1000 genomes]
rs11925192	0.96[ASN][1000 genomes]
rs12485600	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12496973	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634780	0.82[JPT][hapmap]
rs13060128	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1317154	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17657664	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs17657688	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2013208	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs2230590	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234391	0.83[CHB][hapmap]
rs2240326	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs2240327	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap]
rs2240328	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2240329	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs2245365	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2246832	0.83[CHB][hapmap]
rs2247510	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2252833	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271960	0.83[CHB][hapmap]
rs2271961	0.83[CHB][hapmap]
rs2352969	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2352974	0.83[CHB][hapmap]
rs2352984	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2353579	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2353586	0.84[ASN][1000 genomes]
rs2353587	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2526747	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2526748	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs2526751	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.82[ASN][1000 genomes]
rs2526754	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2624819	0.82[JPT][hapmap]
rs2624821	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2624822	0.82[JPT][hapmap]
rs2624824	0.88[CEU][hapmap]
rs2624834	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2624843	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2624844	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2624853	0.87[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2681778	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2681779	0.85[CHD][hapmap];0.82[JPT][hapmap]
rs2681780	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2681781	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2777888	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2856234	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs2883057	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883059	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs34080578	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35065728	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3733135	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774733	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3774734	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs3774758	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3774759	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs3796386	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs4688689	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688690	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688753	0.82[JPT][hapmap]
rs4688755	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.82[ASN][1000 genomes]
rs4688756	0.96[ASN][1000 genomes]
rs4688757	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4688758	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs55751738	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62262093	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6446187	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6446189	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6446193	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.82[ASN][1000 genomes]
rs6762477	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6765484	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6767381	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6771546	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6772095	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6774354	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs6775384	0.83[CHB][hapmap]
rs6780731	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6792892	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6795703	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6802890	0.83[CHB][hapmap]
rs695238	0.92[CHB][hapmap]
rs7061	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs72942333	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7430334	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7609971	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7613875	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7615206	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs7621026	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7621352	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7627864	0.82[JPT][hapmap]
rs7628058	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7634084	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7635002	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7645061	0.83[CHB][hapmap]
rs7648987	0.83[CHB][hapmap]
rs868891	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9311446	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap]
rs952594	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs9814664	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs9821433	0.83[ASN][1000 genomes]
rs9821675	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9843653	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9848497	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853222	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9861216	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.82[ASN][1000 genomes]
rs9862795	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9866695	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs2280406	RBM6	cis	Adipose Subcutaneous	GTEx
rs2280406	RBM6	cis	cerebellum	SCAN
rs2280406	RBM6	cis	Stomach	GTEx
rs2280406	RBM6	cis	Heart Left Ventricle	GTEx
rs2280406	RBM6	cis	Esophagus Muscularis	GTEx
rs2280406	RBM6	Cis_1M	lymphoblastoid	RTeQTL
rs2280406	RNF123	cis	parietal	SCAN
rs2280406	RBM6	cis	lymphoblastoid	seeQTL
rs2280406	CYB561D2	cis	cerebellum	SCAN
rs2280406	RBM6	cis	parietal	SCAN
rs2280406	RBM6	cis	Artery Tibial	GTEx
rs2280406	RBM6	cis	Nerve Tibial	GTEx
rs2280406	ACTBP13	cis	Skin Sun Exposed Lower leg	GTEx
rs2280406	RNF123	cis	cerebellum	SCAN
rs2280406	C3orf54	cis	cerebellum	SCAN
rs2280406	RBM6	cis	Esophagus Mucosa	GTEx
rs2280406	RBM6	cis	Whole Blood	GTEx
rs2280406	RBM6	cis	Skin Sun Exposed Lower leg	GTEx
rs2280406	RBM6	cis	Artery Aorta	GTEx
rs2280406	ARIH2	cis	cerebellum	SCAN
rs2280406	RBM6	cis	lung	GTEx
rs2280406	RBM6	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49920000-49943000	Weak transcription	Brain Anterior Caudate	brain
2	chr3:49928600-49943000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:49931400-49943600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:49937600-49943200	Active TSS	Rectal Smooth Muscle	rectum
5	chr3:49938200-49941800	Flanking Active TSS	HMEC	breast
6	chr3:49938800-49943200	Weak transcription	HSMMtube	muscle
7	chr3:49938800-49943200	Weak transcription	NH-A	brain
8	chr3:49939000-49941600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:49939000-49943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:49939000-49943200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:49939000-49943400	Weak transcription	HSMM	muscle
12	chr3:49939400-49941800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr3:49939400-49942200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr3:49939400-49943400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:49939600-49941800	Flanking Active TSS	Colonic Mucosa	Colon
16	chr3:49939600-49941800	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr3:49939600-49941800	Active TSS	Gastric	stomach
18	chr3:49939800-49941800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr3:49940000-49944200	Enhancers	Spleen	Spleen
20	chr3:49940000-49945600	Weak transcription	Dnd41	blood
21	chr3:49940400-49941800	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr3:49940400-49942600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:49940600-49941600	Flanking Active TSS	Lung	lung
24	chr3:49940600-49941800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:49940800-49941600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:49940800-49941600	Active TSS	Colon Smooth Muscle	Colon
27	chr3:49940800-49941600	Flanking Active TSS	Pancreas	Pancrea
28	chr3:49940800-49941600	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr3:49940800-49941800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:49940800-49941800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:49940800-49941800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr3:49940800-49941800	Enhancers	Fetal Heart	heart
33	chr3:49940800-49941800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr3:49940800-49941800	Flanking Active TSS	Fetal Thymus	thymus
35	chr3:49940800-49941800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr3:49940800-49941800	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr3:49940800-49942600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:49940800-49943400	Weak transcription	Fetal Brain Female	brain
39	chr3:49941000-49941600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr3:49941000-49941600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr3:49941000-49941600	Active TSS	Primary T cells from cord blood	blood
42	chr3:49941000-49941600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:49941000-49941600	Active TSS	Psoas Muscle	Psoas
44	chr3:49941000-49941600	Active TSS	A549	lung
45	chr3:49941000-49941600	Active TSS	K562	blood
46	chr3:49941000-49941800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:49941000-49941800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr3:49941000-49941800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr3:49941000-49941800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr3:49941000-49941800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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