Variant report

Variant	rs1716170
Chromosome Location	chr12:123716513-123716514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:123716346-123718916	IMR90	lung:	n/a	n/a
2	REST	chr12:123716397-123718706	H1-neurons	neurons:	n/a	chr12:123717783-123717796 chr12:123717593-123717603 chr12:123717449-123717462
3	POLR2A	chr12:123716426-123718453	HepG2	liver:	n/a	n/a
4	HEY1	chr12:123716362-123716892	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:123716497-123716586	HepG2	liver:	n/a	n/a
6	MXI1	chr12:123716350-123718974	SK-N-SH	brain:	n/a	n/a
7	CUX1	chr12:123716350-123716852	K562	blood:	n/a	n/a
8	POLR2A	chr12:123716397-123718693	SK-N-MC	brain:	n/a	n/a
9	GATA1	chr12:123716297-123719103	K562	blood:	n/a	chr12:123717946-123717967 chr12:123717953-123717960 chr12:123717953-123717960 chr12:123716547-123716557 chr12:123717953-123717960
10	ZNF263	chr12:123716441-123718758	HEK293-T-REx	kidney:	n/a	chr12:123718673-123718682

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123344301..123346489-chr12:123716077..123720315,3	K562	blood:
2	chr12:123716171..123718231-chr12:124086645..124088616,2	K562	blood:
3	chr12:123634123..123636368-chr12:123714378..123717139,2	MCF-7	breast:
4	chr12:123465881..123468570-chr12:123716034..123719414,3	K562	blood:
5	chr12:123377844..123381497-chr12:123716230..123718980,3	K562	blood:
6	chr12:123458067..123461017-chr12:123715728..123717607,2	MCF-7	breast:
7	chr12:123348260..123351060-chr12:123715794..123718322,2	K562	blood:
8	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
9	chr12:123633130..123634910-chr12:123716201..123717715,2	K562	blood:
10	chr12:123478491..123480718-chr12:123715406..123717168,2	MCF-7	breast:
11	chr12:123593239..123596148-chr12:123716066..123718804,3	K562	blood:
12	chr12:123714199..123721299-chr12:123733822..123739052,7	MCF-7	breast:
13	chr12:123646433..123649058-chr12:123716040..123717583,2	MCF-7	breast:
14	chr12:123457894..123461734-chr12:123715409..123718960,7	K562	blood:
15	chr12:123715746..123718967-chr12:123870796..123875270,4	K562	blood:
16	chr12:123704862..123707251-chr12:123716101..123718102,3	MCF-7	breast:
17	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
18	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
19	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
20	chr12:123715831..123718104-chr12:123754466..123757204,4	MCF-7	breast:
21	chr12:123449701..123452611-chr12:123716445..123719411,3	K562	blood:
22	chr12:123474497..123476026-chr12:123715304..123717447,2	K562	blood:
23	chr12:123449477..123453379-chr12:123715163..123718004,4	MCF-7	breast:
24	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:
25	chr12:123380300..123383026-chr12:123716228..123718007,3	K562	blood:
26	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:

No data

Variant related genes	Relation type
MPHOSPH9	TF binding region
C12orf65	TF binding region
ENSG00000130787	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000183955	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000256152	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 184 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs1047158	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1051431	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1060105	0.89[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs10732573	0.80[CEU][hapmap]
rs10744148	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10744149	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10744150	0.80[EUR][1000 genomes]
rs10744151	0.82[EUR][1000 genomes]
rs10772993	0.83[EUR][1000 genomes]
rs10772995	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10772996	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10772997	0.82[EUR][1000 genomes]
rs10772998	0.94[CEU][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10772999	0.81[EUR][1000 genomes]
rs10773001	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10773002	0.84[GIH][hapmap]
rs10846478	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10846486	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10846487	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10846491	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11057192	1.00[ASW][hapmap];0.94[CEU][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11057202	0.82[EUR][1000 genomes]
rs11057204	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11057205	0.81[EUR][1000 genomes]
rs11057206	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11057207	0.81[EUR][1000 genomes]
rs11057210	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1106240	1.00[CEU][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs1106241	1.00[CEU][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11830103	0.84[CEU][hapmap]
rs12298826	0.94[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs12304248	0.89[CEU][hapmap]
rs12316131	0.94[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs12322888	0.94[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs1260294	0.94[CEU][hapmap];0.80[GIH][hapmap];0.91[TSI][hapmap]
rs12817892	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12818067	0.96[EUR][1000 genomes]
rs12824957	0.85[EUR][1000 genomes]
rs12829456	0.96[EUR][1000 genomes]
rs1402274	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1402275	0.85[ASW][hapmap];0.97[GIH][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1533703	0.94[CEU][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1568427	0.88[GIH][hapmap]
rs1569068	1.00[CEU][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs1609520	0.80[CEU][hapmap];0.88[GIH][hapmap]
rs1615350	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs1615694	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1616131	0.84[EUR][1000 genomes]
rs1616181	0.84[EUR][1000 genomes]
rs1617156	0.94[CEU][hapmap];0.94[TSI][hapmap]
rs1617434	0.85[EUR][1000 genomes]
rs1618679	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1621194	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1626899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1627724	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1630693	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1630905	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1716156	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716157	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1716158	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1716159	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1716160	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1716164	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1716165	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716167	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716168	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1716169	0.83[EUR][1000 genomes]
rs1716171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1716173	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1716175	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1716176	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716177	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716182	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716185	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1727290	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1727294	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs1727296	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1727300	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1727302	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs1727306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1727309	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes]
rs1727310	0.86[EUR][1000 genomes]
rs1727313	1.00[CEU][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs1727314	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1727315	0.92[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1727316	0.84[EUR][1000 genomes]
rs1727317	0.81[EUR][1000 genomes]
rs1727318	0.80[EUR][1000 genomes]
rs1727320	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1727322	0.85[EUR][1000 genomes]
rs1727323	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1727324	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1727325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1727331	0.80[CEU][hapmap];0.88[GIH][hapmap];0.81[EUR][1000 genomes]
rs1727332	0.83[EUR][1000 genomes]
rs1727334	0.93[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1790086	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1790087	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1790089	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1790090	0.85[EUR][1000 genomes]
rs1790095	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1790098	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1790099	1.00[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs1790100	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1790101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1790102	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1790108	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790109	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790116	0.85[ASW][hapmap];0.94[CEU][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs1790123	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1790124	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790125	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1790130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1790131	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1879380	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs1969354	0.92[ASW][hapmap];0.94[CEU][hapmap];0.93[GIH][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1980252	0.94[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2049114	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2337934	0.92[ASW][hapmap];0.94[CEU][hapmap];0.97[GIH][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2510885	0.81[EUR][1000 genomes]
rs2682426	0.82[AMR][1000 genomes]
rs2682429	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2682430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2682431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2682433	0.89[EUR][1000 genomes]
rs2682434	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2695476	0.89[EUR][1000 genomes]
rs2695478	1.00[CEU][hapmap];0.87[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs2695479	0.86[EUR][1000 genomes]
rs2695480	0.88[EUR][1000 genomes]
rs2695481	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2695482	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs28406193	0.89[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs28458312	0.94[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs28472704	0.89[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs2851435	0.91[EUR][1000 genomes]
rs2851436	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2851438	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2851447	0.88[CEU][hapmap]
rs2851450	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2851451	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28569885	0.90[GIH][hapmap];0.91[TSI][hapmap]
rs28625019	0.90[GIH][hapmap];0.91[TSI][hapmap]
rs28636834	0.89[CEU][hapmap];0.97[GIH][hapmap];0.94[TSI][hapmap]
rs28706696	0.90[GIH][hapmap];0.91[TSI][hapmap]
rs2947099	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2950537	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3018098	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34341465	0.96[EUR][1000 genomes]
rs4268544	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4372492	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4460848	0.85[ASW][hapmap];0.89[CEU][hapmap];0.80[MKK][hapmap];0.84[TSI][hapmap]
rs4759371	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4759409	0.94[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4759415	0.92[ASW][hapmap];0.94[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4759416	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4759417	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4930718	0.87[GIH][hapmap];0.83[TSI][hapmap]
rs520088	0.94[CEU][hapmap];0.94[TSI][hapmap]
rs585522	0.86[TSI][hapmap]
rs58809476	0.96[EUR][1000 genomes]
rs641760	0.94[CEU][hapmap];0.94[TSI][hapmap]
rs655293	0.94[CEU][hapmap];0.94[TSI][hapmap]
rs6633	0.86[EUR][1000 genomes]
rs7132277	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs7137286	0.82[EUR][1000 genomes]
rs7299943	0.89[CEU][hapmap];0.85[TSI][hapmap]
rs7304782	0.80[CEU][hapmap];0.88[GIH][hapmap];0.81[EUR][1000 genomes]
rs7313483	0.94[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7953929	1.00[CEU][hapmap];0.97[GIH][hapmap];0.81[EUR][1000 genomes]
rs7980687	0.89[CEU][hapmap]
rs884548	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs941305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs941306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs949142	0.85[EUR][1000 genomes]
rs9795522	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	esv1803368	chr12:123640853-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	esv1830566	chr12:123640853-123822503	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1836043	chr12:123709409-123822503	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1716170	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs1716170	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs1716170	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs1716170	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs1716170	ANAPC5	cis	parietal	SCAN
rs1716170	CDK2AP1	cis	Esophagus Mucosa	GTEx
rs1716170	PITPNM2	cis	cerebellum	SCAN
rs1716170	CDK2AP1	cis	lymphoblastoid	seeQTL
rs1716170	LOC283378	Cis_1M	lymphoblastoid	RTeQTL
rs1716170	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
2	chr12:123680600-123716600	Weak transcription	Colonic Mucosa	Colon
3	chr12:123687800-123716600	Weak transcription	Gastric	stomach
4	chr12:123687800-123716600	Weak transcription	Pancreas	Pancrea
5	chr12:123687800-123717000	Weak transcription	Aorta	Aorta
6	chr12:123694600-123716800	Weak transcription	Ovary	ovary
7	chr12:123698400-123716600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:123699600-123716600	Weak transcription	Spleen	Spleen
9	chr12:123699600-123716600	Weak transcription	HSMMtube	muscle
10	chr12:123705000-123716600	Weak transcription	Lung	lung
11	chr12:123706800-123717000	Weak transcription	Small Intestine	intestine
12	chr12:123708200-123716600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:123708200-123716600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:123708200-123716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:123709600-123716600	Weak transcription	Placenta	Placenta
16	chr12:123710800-123716600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:123711400-123716600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:123711600-123716600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:123714000-123716600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:123714000-123716600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:123714200-123716600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:123714400-123716600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:123715200-123717200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:123715400-123716600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:123715400-123716600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr12:123715400-123716600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:123715400-123716800	Flanking Active TSS	Fetal Thymus	thymus
28	chr12:123715600-123716600	Enhancers	Fetal Stomach	stomach
29	chr12:123715600-123717000	Flanking Active TSS	Dnd41	blood
30	chr12:123716000-123716600	Enhancers	Brain Substantia Nigra	brain
31	chr12:123716000-123716600	Enhancers	Left Ventricle	heart
32	chr12:123716000-123716600	Enhancers	Psoas Muscle	Psoas
33	chr12:123716000-123716600	Enhancers	Right Atrium	heart
34	chr12:123716000-123716800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:123716000-123716800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:123716000-123717000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:123716000-123717200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr12:123716000-123717200	Flanking Active TSS	Liver	Liver
39	chr12:123716200-123716600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123716200-123716600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:123716200-123716800	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:123716200-123716800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:123716200-123716800	Flanking Active TSS	Hela-S3	cervix
44	chr12:123716200-123717000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:123716200-123717000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr12:123716200-123717000	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr12:123716200-123717200	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr12:123716200-123717200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:123716200-123717200	Flanking Active TSS	HUVEC	blood vessel
50	chr12:123716200-123717400	Flanking Active TSS	Primary B cells from cord blood	blood

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Variant report

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