Variant report

Variant	rs1109895
Chromosome Location	chr1:59012431-59012432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:510)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr1:59012093-59012760	K562	blood:	n/a	n/a
2	POLR2A	chr1:59011740-59012562	K562	blood:	n/a	n/a
3	POLR2A	chr1:59011344-59012802	K562	blood:	n/a	n/a
4	TAF1	chr1:59012180-59012644	A549	lung:	n/a	n/a
5	PML	chr1:59012232-59012817	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:59011641-59012712	GM12878	blood:	n/a	n/a
7	CHD2	chr1:59011610-59012738	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr1:59012268-59012724	A549	lung:	n/a	n/a
9	TCF12	chr1:59011674-59012864	ECC-1	luminal epithelium:	n/a	chr1:59012517-59012527
10	POLR2A	chr1:59011519-59012786	HL-60	blood:	n/a	n/a
11	YY1	chr1:59012201-59012698	H1-hESC	embryonic stem cell:	n/a	n/a
12	RFX5	chr1:59012373-59012731	H1-hESC	embryonic stem cell:	n/a	chr1:59012601-59012616 chr1:59012599-59012615
13	BRCA1	chr1:59012281-59012747	Hela-S3	cervix:	n/a	n/a
14	ELF1	chr1:59012237-59012678	A549	lung:	n/a	chr1:59012433-59012446 chr1:59012524-59012536
15	JUND	chr1:59012158-59012538	A549	lung:	n/a	n/a
16	POLR2A	chr1:59011726-59012783	GM18951	blood:	n/a	n/a
17	POLR2A	chr1:59012184-59012613	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr1:59012122-59012981	HCT-116	colon:	n/a	n/a
19	POLR2A	chr1:59011684-59012617	HepG2	liver:	n/a	n/a
20	GABPA	chr1:59012207-59012711	SK-N-SH	brain:	n/a	n/a
21	RUNX3	chr1:59012159-59012806	GM12878	blood:	n/a	n/a
22	EGR1	chr1:59012041-59012682	ECC-1	luminal epithelium:	n/a	chr1:59012472-59012485 chr1:59012434-59012443
23	EGR1	chr1:59012098-59012622	GM12878	blood:	n/a	chr1:59012472-59012485 chr1:59012434-59012443
24	CTCF	chr1:59012345-59012728	GM12878	blood:	n/a	n/a
25	TBL1XR1	chr1:59012316-59012789	K562	blood:	n/a	n/a
26	FOXA1	chr1:59012259-59012683	T-47D	breast:	n/a	n/a
27	MAX	chr1:59012184-59012761	A549	lung:	n/a	n/a
28	POLR2A	chr1:59011628-59012726	GM19193	blood:	n/a	n/a
29	POLR2A	chr1:59011790-59012667	GM19099	blood:	n/a	n/a
30	POLR2A	chr1:59011569-59012723	K562	blood:	n/a	n/a
31	SRF	chr1:59012192-59012781	ECC-1	luminal epithelium:	n/a	n/a
32	ARID3A	chr1:59012409-59012715	HepG2	liver:	n/a	n/a
33	MAX	chr1:59011794-59012632	GM12878	blood:	n/a	chr1:59012071-59012080
34	TAF1	chr1:59012152-59012667	GM12878	blood:	n/a	n/a
35	YY1	chr1:59012154-59012717	HCT-116	colon:	n/a	n/a
36	EP300	chr1:59012296-59012662	SK-N-SH_RA	brain:	n/a	n/a
37	GTF2F1	chr1:59012215-59012755	Hela-S3	cervix:	n/a	n/a
38	TEAD4	chr1:59012141-59012721	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr1:59012295-59012722	GM12891	blood:	n/a	n/a
40	CTCF	chr1:59012359-59012728	T-47D	breast:	n/a	n/a
41	ZNF384	chr1:59012343-59012748	K562	blood:	n/a	n/a
42	MYBL2	chr1:59012256-59012668	HepG2	liver:	n/a	n/a
43	RAD21	chr1:59012387-59012737	A549	lung:	n/a	chr1:59012555-59012569
44	POLR2A	chr1:59011522-59012572	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr1:59012386-59012712	GM10266	blood:	n/a	n/a
46	TBP	chr1:59011558-59012609	HepG2	liver:	n/a	n/a
47	POLR2A	chr1:59012164-59012527	HepG2	liver:	n/a	n/a
48	CHD2	chr1:59012391-59012683	H1-hESC	embryonic stem cell:	n/a	n/a
49	SPI1	chr1:59012280-59012513	K562	blood:	n/a	n/a
50	TBL1XR1	chr1:59012403-59012901	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:59012418-59012468	SK-N-SH	brain:	n/a
2	chr1:59012418-59012468	AG09309	skin:	n/a
3	chr1:59012392-59012442	SK-N-SH	brain:	n/a
4	chr1:59012392-59012442	HepG2	liver:	n/a
5	chr1:59012418-59012468	GM19239	blood:	n/a
6	chr1:59012418-59012468	ProgFib	skin:	n/a
7	chr1:59012418-59012468	BJ	skin:	n/a
8	chr1:59012418-59012468	NB4	blood:	n/a
9	chr1:59012418-59012468	HIPEpiC	eye:	n/a
10	chr1:59012418-59012468	SK-N-MC	brain:	n/a
11	chr1:59012418-59012468	GM12892	blood:	n/a
12	chr1:59012418-59012468	A549	lung:	n/a
13	chr1:59012392-59012442	AoSMC	blood vessel:	n/a
14	chr1:59012418-59012468	Jurkat	blood:	n/a
15	chr1:59012418-59012468	IMR90	lung:	fetal
16	chr1:59012418-59012468	K562	blood:	n/a
17	chr1:59012392-59012442	MCF-7	breast:	n/a
18	chr1:59012392-59012442	GM12878	blood:	n/a
19	chr1:59012392-59012442	GM12892	blood:	n/a
20	chr1:59012392-59012442	NB4	blood:	n/a
21	chr1:59012418-59012468	HMEC	breast:	n/a
22	chr1:59012392-59012442	RPTEC	kidney:	n/a
23	chr1:59012392-59012442	HEK293	kidney:	embryo
24	chr1:59012392-59012442	ECC-1	luminal epithelium:	n/a
25	chr1:59012392-59012442	GM19239	blood:	n/a
26	chr1:59012392-59012442	NHBE	bronchial:	n/a
27	chr1:59012392-59012442	CMK	blood:	n/a
28	chr1:59012392-59012442	A549	lung:	n/a
29	chr1:59012392-59012442	PANC-1	pancreas:	n/a
30	chr1:59012392-59012442	HUVEC	blood vessel:	n/a
31	chr1:59012418-59012468	ovcar-3	ovarian:	n/a
32	chr1:59012418-59012468	PANC-1	pancreas:	n/a
33	chr1:59012392-59012442	PrEC	prostate:	n/a
34	chr1:59012392-59012442	NH-A	brain:	n/a
35	chr1:59012392-59012442	SAEC	small airway:	n/a
36	chr1:59012392-59012442	MCF10A-Er-Src	breast:	n/a
37	chr1:59012418-59012468	BE2_C	brain:	n/a
38	chr1:59012392-59012442	HCM	heart:	n/a
39	chr1:59012418-59012468	HEEpiC	esophagus:	n/a
40	chr1:59012392-59012442	SK-N-SH_RA	brain:	n/a
41	chr1:59012392-59012442	SKMC	muscle:	n/a
42	chr1:59012392-59012442	ovcar-3	ovarian:	n/a
43	chr1:59012392-59012442	HCF	heart:	n/a
44	chr1:59012418-59012468	MCF-7	breast:	n/a
45	chr1:59012418-59012468	HCPEpiC	choroid plexus:	n/a
46	chr1:59012418-59012468	HEK293	kidney:	embryo
47	chr1:59012392-59012442	HCT-116	colon:	n/a
48	chr1:59012418-59012468	Hela-S3	cervix:	n/a
49	chr1:59012392-59012442	H1-hESC	embryonic stem cell:	embryo
50	chr1:59012418-59012468	AG04450	lung:	fetal

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59012212..59014754-chr1:91486233..91488935,2	K562	blood:
2	chr1:59012003..59012817-chr1:153918421..153919269,2	HCT-116	colon:
3	chr1:59010739..59013825-chr1:59014370..59019048,5	K562	blood:
4	chr1:59010376..59013266-chr1:59015138..59019159,5	K562	blood:
5	chr1:59012111..59013968-chr19:54693978..54696098,2	MCF-7	breast:
6	chr1:59009849..59013755-chr1:59040870..59045611,9	MCF-7	breast:
7	chr1:59010302..59014215-chr1:59041338..59045361,8	MCF-7	breast:

No data

Variant related genes	Relation type
OMA1	TF binding region
DAB1	TF binding region
OMA1	CpG island
DAB1	CpG island
ENSG00000122482	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000184292	Chromatin interaction
ENSG00000170892	Chromatin interaction
ENSG00000270209	Chromatin interaction

Extended variants
information (count: 141 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10458559	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489815	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10789063	0.80[EUR][1000 genomes]
rs10789064	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789065	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10789066	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789067	0.82[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10889099	0.94[ASN][1000 genomes]
rs10889100	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889101	1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109896	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207238	0.82[ASN][1000 genomes]
rs11207239	0.82[ASN][1000 genomes]
rs11207245	0.81[ASN][1000 genomes]
rs11207246	0.94[ASN][1000 genomes]
rs11207247	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11207248	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11207250	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207251	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207252	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207253	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207254	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11207255	1.00[ASN][1000 genomes]
rs11207260	0.88[ASN][1000 genomes]
rs11207262	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11207264	0.81[ASN][1000 genomes]
rs11207265	0.81[ASN][1000 genomes]
rs11207266	0.81[ASN][1000 genomes]
rs11207267	0.81[ASN][1000 genomes]
rs11207268	0.81[ASN][1000 genomes]
rs11581395	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs11581594	0.81[ASN][1000 genomes]
rs11582299	0.81[ASN][1000 genomes]
rs11583248	0.81[ASN][1000 genomes]
rs11589214	0.88[ASN][1000 genomes]
rs11589236	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11590757	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11590785	0.94[ASN][1000 genomes]
rs12030713	0.95[CEU][hapmap];0.82[CHB][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12058651	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12067296	0.88[ASN][1000 genomes]
rs12067565	0.88[ASN][1000 genomes]
rs12068196	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12068201	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12068391	0.88[ASN][1000 genomes]
rs12068457	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12068597	0.81[ASN][1000 genomes]
rs12069688	0.81[ASN][1000 genomes]
rs12070503	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12072998	0.94[ASN][1000 genomes]
rs12077340	0.88[ASN][1000 genomes]
rs12077766	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12080357	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12087583	0.84[ASN][1000 genomes]
rs12088905	0.82[ASN][1000 genomes]
rs12092564	0.81[ASN][1000 genomes]
rs12097882	0.88[ASN][1000 genomes]
rs12118488	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12121129	0.82[ASN][1000 genomes]
rs12124662	0.90[CEU][hapmap]
rs12125391	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133823	0.94[ASN][1000 genomes]
rs12139475	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12141238	0.94[ASN][1000 genomes]
rs12142098	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144759	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12406405	0.84[ASN][1000 genomes]
rs17117742	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17117873	1.00[JPT][hapmap]
rs17117877	0.81[ASN][1000 genomes]
rs17372425	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs17461345	1.00[JPT][hapmap]
rs1775002	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2087799	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs232822	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs232826	0.81[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs232841	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs232842	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs232844	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs232847	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs232848	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs232849	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406784	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087585	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34023272	0.88[ASN][1000 genomes]
rs34135541	0.88[ASN][1000 genomes]
rs3893156	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs3893157	0.81[ASN][1000 genomes]
rs41313363	0.84[ASN][1000 genomes]
rs486463	0.90[CEU][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4912195	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs4912344	0.80[AMR][1000 genomes]
rs56049576	1.00[ASN][1000 genomes]
rs56087605	0.82[ASN][1000 genomes]
rs56138615	0.82[ASN][1000 genomes]
rs562166	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs584579	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59607787	0.88[ASN][1000 genomes]
rs59924197	0.84[ASN][1000 genomes]
rs602579	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs603031	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60490291	0.94[ASN][1000 genomes]
rs60726128	1.00[ASN][1000 genomes]
rs61779295	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61779296	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs620342	0.95[CEU][hapmap];0.84[CHB][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs627218	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6587818	0.80[EUR][1000 genomes]
rs6587819	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs6587820	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587821	0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6587828	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs659061	0.82[CEU][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6663327	0.81[ASN][1000 genomes]
rs6666138	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6666304	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6679808	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6687324	0.90[CEU][hapmap]
rs6690139	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6704300	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs672359	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67264345	0.81[ASN][1000 genomes]
rs67443104	0.88[ASN][1000 genomes]
rs67639631	0.93[EUR][1000 genomes]
rs67673245	0.81[ASN][1000 genomes]
rs67805407	0.88[ASN][1000 genomes]
rs68192782	0.88[ASN][1000 genomes]
rs72672216	0.94[ASN][1000 genomes]
rs7355165	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7355166	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7515056	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7517424	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7520008	0.93[EUR][1000 genomes]
rs7536230	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs7536867	0.84[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7544032	0.80[AMR][1000 genomes]
rs7546900	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547036	0.90[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7547070	0.84[ASN][1000 genomes]
rs905567	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1109895	TACSTD2	cis	Thyroid	GTEx
rs1109895	DAB1///OMA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59010600-59013000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:59010800-59012800	Active TSS	HSMMtube	muscle
3	chr1:59011000-59012600	Active TSS	GM12878-XiMat	blood
4	chr1:59011000-59012800	Active TSS	Aorta	Aorta
5	chr1:59011000-59013000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:59011000-59013000	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:59011000-59013200	Active TSS	Brain Angular Gyrus	brain
8	chr1:59011200-59012600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:59011200-59012600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:59011200-59012800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:59011200-59012800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:59011200-59012800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:59011200-59012800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:59011200-59012800	Active TSS	Fetal Muscle Trunk	muscle
15	chr1:59011200-59012800	Active TSS	Right Ventricle	heart
16	chr1:59011200-59013000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:59011200-59013000	Active TSS	Fetal Brain Male	brain
18	chr1:59011200-59013000	Active TSS	Fetal Brain Female	brain
19	chr1:59011200-59013000	Active TSS	Fetal Kidney	kidney
20	chr1:59011200-59013000	Active TSS	Fetal Stomach	stomach
21	chr1:59011200-59013000	Active TSS	Psoas Muscle	Psoas
22	chr1:59011200-59013000	Active TSS	Right Atrium	heart
23	chr1:59011200-59013000	Active TSS	Thymus	Thymus
24	chr1:59011200-59013000	Active TSS	NHLF	lung
25	chr1:59011200-59013200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr1:59011200-59013200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr1:59011200-59013200	Active TSS	A549	lung
28	chr1:59011400-59012600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:59011400-59012600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:59011400-59012600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr1:59011400-59012800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:59011400-59012800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:59011400-59012800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:59011400-59012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:59011400-59012800	Active TSS	Colon Smooth Muscle	Colon
36	chr1:59011400-59012800	Active TSS	Fetal Intestine Small	intestine
37	chr1:59011400-59012800	Active TSS	Left Ventricle	heart
38	chr1:59011400-59012800	Active TSS	Ovary	ovary
39	chr1:59011400-59012800	Active TSS	Pancreas	Pancrea
40	chr1:59011400-59012800	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:59011400-59013000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:59011400-59013000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:59011400-59013000	Active TSS	Brain Hippocampus Middle	brain
44	chr1:59011400-59013000	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:59011400-59013000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:59011400-59013000	Active TSS	Brain Substantia Nigra	brain
47	chr1:59011400-59013000	Active TSS	Fetal Heart	heart
48	chr1:59011400-59013200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:59011400-59013200	Active TSS	Brain Anterior Caudate	brain
50	chr1:59011400-59013200	Active TSS	NHDF-Ad	bronchial

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