Variant report

Variant	rs4850901
Chromosome Location	chr2:99954735-99954736
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99954230-99954999	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:99954517-99954949	GM12891	blood:	n/a	n/a
3	MTA3	chr2:99952087-99954871	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:99952119-99954851	GM12878	blood:	n/a	n/a
5	MAX	chr2:99952506-99954916	NB4	blood:	n/a	n/a
6	MYBL2	chr2:99952095-99954783	HepG2	liver:	n/a	n/a
7	TBP	chr2:99952197-99954758	K562	blood:	n/a	n/a
8	MAX	chr2:99952369-99954755	K562	blood:	n/a	n/a
9	POLR2A	chr2:99952295-99954889	HepG2	liver:	n/a	n/a
10	SIN3A	chr2:99954335-99954872	GM12878	blood:	n/a	n/a
11	HEY1	chr2:99952264-99954850	K562	blood:	n/a	chr2:99954077-99954092
12	WRNIP1	chr2:99954378-99954963	GM12878	blood:	n/a	n/a
13	MYC	chr2:99951973-99954969	K562	blood:	n/a	n/a
14	ZNF263	chr2:99952380-99954773	HEK293-T-REx	kidney:	n/a	n/a
15	SIN3A	chr2:99951909-99954888	H1-hESC	embryonic stem cell:	n/a	chr2:99952653-99952662 chr2:99952346-99952354 chr2:99951997-99952005
16	POLR2A	chr2:99951607-99954890	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr2:99954687-99954872	A549	lung:	n/a	n/a
18	GATA3	chr2:99954422-99954744	T-47D	breast:	n/a	n/a
19	POLR2A	chr2:99951882-99954895	K562	blood:	n/a	n/a
20	POLR2A	chr2:99953522-99954784	GM12878	blood:	n/a	n/a
21	UBTF	chr2:99952350-99955027	K562	blood:	n/a	n/a
22	MYC	chr2:99953498-99954771	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr2:99951643-99955117	IMR90	lung:	n/a	n/a
24	POLR2A	chr2:99954434-99954898	PFSK-1	brain:	n/a	n/a
25	MYC	chr2:99951976-99954743	K562	blood:	n/a	n/a
26	MXI1	chr2:99952413-99955150	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:99952381-99954972	PBDE	blood:	n/a	n/a
28	TBP	chr2:99954355-99954815	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:99954224-99954898	GM12892	blood:	n/a	n/a
30	RUNX3	chr2:99954270-99954857	GM12878	blood:	n/a	n/a
31	STAT3	chr2:99954430-99954855	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:99951677-99955011	GM12891	blood:	n/a	n/a
33	ELK1	chr2:99954580-99954799	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:99954297-99954933	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:99952150-99954918	GM18505	blood:	n/a	n/a
36	MXI1	chr2:99951567-99955221	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr2:99952311-99954863	IMR90	lung:	n/a	n/a
38	MAX	chr2:99952266-99954924	HepG2	liver:	n/a	n/a
39	HCFC1	chr2:99951498-99955045	Hela-S3	cervix:	n/a	n/a
40	MYC	chr2:99952390-99954847	K562	blood:	n/a	n/a
41	RUNX3	chr2:99954259-99954801	GM12878	blood:	n/a	n/a
42	MXI1	chr2:99954417-99955176	K562	blood:	n/a	n/a
43	FOS	chr2:99954704-99954964	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr2:99951873-99954925	K562	blood:	n/a	chr2:99951891-99951901
45	MAX	chr2:99953258-99954931	K562	blood:	n/a	n/a
46	BRCA1	chr2:99954335-99954983	Hela-S3	cervix:	n/a	n/a
47	MAX	chr2:99954627-99954831	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr2:99952209-99955132	MCF10A-Er-Src	breast:	n/a	n/a
49	EP300	chr2:99954708-99954908	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:99954246-99954935	Hela-S3	cervix:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
2	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
3	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
4	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
5	chr2:99954032..99955953-chr2:99973358..99975557,2	MCF-7	breast:
6	chr2:99796197..99799811-chr2:99951417..99956311,9	MCF-7	breast:
7	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
8	chr2:99769755..99772454-chr2:99953389..99955420,3	K562	blood:
9	chr2:99950906..99955641-chr2:100018668..100021744,4	MCF-7	breast:
10	chr2:99953873..99955383-chr20:52824227..52826110,2	MCF-7	breast:
11	chr2:99796308..99800210-chr2:99949212..99956082,14	MCF-7	breast:

No data

Variant related genes	Relation type
TXNDC9	TF binding region
ENSG00000101132	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000185414	Chromatin interaction
ENSG00000144182	Chromatin interaction

Extended variants
information (count: 148 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1000409	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs1011633	0.84[JPT][hapmap]
rs10170425	0.84[EUR][1000 genomes]
rs10172068	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10172752	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs10187843	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10207981	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1053544	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10779902	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11123775	0.85[JPT][hapmap]
rs11123777	0.80[ASN][1000 genomes]
rs11123779	0.80[ASN][1000 genomes]
rs11123782	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs11123786	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11674219	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11676581	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs11679115	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683651	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11685870	0.80[ASN][1000 genomes]
rs11686535	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs11687870	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884686	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs11887109	0.87[EUR][1000 genomes]
rs11887574	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs11892441	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs11892472	0.83[ASN][1000 genomes]
rs11897443	0.81[ASN][1000 genomes]
rs11899745	0.84[JPT][hapmap]
rs11902994	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464535	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12464785	0.85[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs12475639	0.86[ASN][1000 genomes]
rs12615519	0.82[CEU][hapmap]
rs12618779	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621141	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12623540	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13008948	0.84[ASN][1000 genomes]
rs13009884	0.81[ASN][1000 genomes]
rs13010416	0.80[ASN][1000 genomes]
rs13014360	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13017871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13018274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13019192	0.83[ASN][1000 genomes]
rs13026997	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs13028869	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033740	0.81[ASN][1000 genomes]
rs13389623	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13392042	0.85[EUR][1000 genomes]
rs13427780	0.84[EUR][1000 genomes]
rs1376443	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1451243	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1584647	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1584648	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs17022433	0.84[JPT][hapmap]
rs17022564	0.87[ASN][1000 genomes]
rs17022629	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1807985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1825770	0.80[ASN][1000 genomes]
rs1901283	0.83[EUR][1000 genomes]
rs2141908	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2242037	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2290255	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs2290256	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290257	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2290261	0.85[CHB][hapmap];0.83[JPT][hapmap]
rs2305354	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2309576	0.81[ASN][1000 genomes]
rs2309585	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2309617	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs28369943	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs28382954	0.83[EUR][1000 genomes]
rs3087386	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs3749087	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs3791212	0.86[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3792134	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[EUR][1000 genomes]
rs3792137	0.89[JPT][hapmap]
rs3792142	0.83[JPT][hapmap]
rs3792146	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3792149	0.93[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs3792152	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3811555	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828316	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4143760	0.85[JPT][hapmap]
rs4535093	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4850899	0.80[ASN][1000 genomes]
rs4850903	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4851200	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4851204	0.81[ASN][1000 genomes]
rs4851205	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851206	0.84[JPT][hapmap]
rs55815229	0.87[ASN][1000 genomes]
rs55867742	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57242893	0.87[ASN][1000 genomes]
rs58086269	0.88[ASN][1000 genomes]
rs59178618	0.81[ASN][1000 genomes]
rs59661148	0.83[ASN][1000 genomes]
rs60294863	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62153855	0.88[ASN][1000 genomes]
rs6542879	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6542880	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6542882	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6708861	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6709240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711977	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs6713608	0.81[ASN][1000 genomes]
rs6713792	0.83[EUR][1000 genomes]
rs6714244	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs6715321	0.84[JPT][hapmap]
rs6717515	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6721297	0.82[CEU][hapmap];0.91[CHB][hapmap];0.96[YRI][hapmap]
rs6722617	0.89[JPT][hapmap]
rs6734290	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6735381	0.80[ASN][1000 genomes]
rs71413827	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs717454	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs7558062	0.81[ASN][1000 genomes]
rs7558074	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7561079	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7561616	0.86[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[ASN][1000 genomes]
rs7563462	0.85[JPT][hapmap]
rs7567674	0.96[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7570978	0.80[ASN][1000 genomes]
rs7571202	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7574135	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7579403	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7580448	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7585019	0.84[JPT][hapmap]
rs7585721	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7586892	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7587419	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7591212	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7593274	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7594838	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7597045	0.81[ASN][1000 genomes]
rs7597141	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs7598629	0.85[EUR][1000 genomes]
rs7601470	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7601730	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7602923	0.81[ASN][1000 genomes]
rs7606977	0.81[ASN][1000 genomes]
rs7609108	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs769105	0.84[JPT][hapmap]
rs896248	0.82[JPT][hapmap]
rs896249	0.85[JPT][hapmap]
rs959929	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4850901	LYG1	cis	Skin Sun Exposed Lower leg	GTEx
rs4850901	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs4850901	LIPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99950400-99956000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:99950800-99955400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:99951000-99955600	Active TSS	HMEC	breast
4	chr2:99951400-99955200	Active TSS	A549	lung
5	chr2:99951400-99955400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:99951400-99955400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:99951400-99956000	Active TSS	K562	blood
8	chr2:99951600-99954800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:99951600-99955000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:99951600-99955000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:99951600-99955000	Active TSS	Right Atrium	heart
12	chr2:99951600-99955200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:99951600-99955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:99951600-99955200	Active TSS	Fetal Intestine Small	intestine
15	chr2:99951600-99955200	Active TSS	Psoas Muscle	Psoas
16	chr2:99951600-99955400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:99951600-99955400	Active TSS	NHLF	lung
18	chr2:99951600-99958200	Active TSS	GM12878-XiMat	blood
19	chr2:99951800-99954800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:99951800-99954800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:99951800-99954800	Active TSS	Esophagus	oesophagus
22	chr2:99951800-99954800	Active TSS	Placenta Amnion	Placenta Amnion
23	chr2:99951800-99955000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr2:99951800-99955000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr2:99951800-99955000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:99951800-99955000	Active TSS	Fetal Kidney	kidney
27	chr2:99951800-99955000	Active TSS	Fetal Muscle Trunk	muscle
28	chr2:99951800-99955000	Active TSS	NHEK	skin
29	chr2:99951800-99955200	Active TSS	HSMM	muscle
30	chr2:99951800-99955200	Active TSS	HSMMtube	muscle
31	chr2:99951800-99955400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:99951800-99955400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:99951800-99955400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:99951800-99955400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:99951800-99956000	Active TSS	Right Ventricle	heart
36	chr2:99952000-99954800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:99952000-99954800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:99952000-99954800	Active TSS	Aorta	Aorta
39	chr2:99952000-99954800	Active TSS	Lung	lung
40	chr2:99952000-99954800	Active TSS	Ovary	ovary
41	chr2:99952000-99954800	Active TSS	Pancreas	Pancrea
42	chr2:99952000-99955000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr2:99952000-99955000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:99952000-99955000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr2:99952000-99955000	Active TSS	Gastric	stomach
46	chr2:99952000-99955000	Active TSS	Left Ventricle	heart
47	chr2:99952000-99955000	Bivalent/Poised TSS	HepG2	liver
48	chr2:99952000-99955000	Active TSS	NHDF-Ad	bronchial
49	chr2:99952000-99955200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:99952000-99955200	Active TSS	Fetal Intestine Large	intestine

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