Variant report

Variant	rs1790108
Chromosome Location	chr12:123636841-123636842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr12:123635763-123636971	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:123636525-123637082	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr12:123635667-123637029	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr12:123634850-123637088	K562	blood:	n/a	n/a
5	POLR2A	chr12:123635871-123638687	K562	blood:	n/a	n/a
6	POLR2A	chr12:123635655-123637074	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr12:123635795-123637073	HL-60	blood:	n/a	n/a
8	POLR2A	chr12:123636665-123636918	HepG2	liver:	n/a	n/a
9	ZNF263	chr12:123635772-123636902	HEK293-T-REx	kidney:	n/a	chr12:123635832-123635841
10	POLR2A	chr12:123635568-123637092	K562	blood:	n/a	n/a
11	POLR2A	chr12:123635983-123636865	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123636019-123636880	GM12892	blood:	n/a	n/a
13	POLR2A	chr12:123636833-123636913	MCF-7	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
2	chr12:123517171..123520609-chr12:123634791..123638617,3	K562	blood:
3	chr12:123617700..123620555-chr12:123634870..123636855,3	MCF-7	breast:
4	chr12:123547606..123549243-chr12:123635108..123637286,2	MCF-7	breast:
5	chr12:123634768..123637262-chr12:124085657..124088192,2	K562	blood:
6	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
7	chr12:123633613..123635147-chr12:123636492..123638541,2	MCF-7	breast:
8	chr12:123568355..123570038-chr12:123635637..123637696,2	MCF-7	breast:
9	chr12:123574871..123577625-chr12:123635000..123637260,3	MCF-7	breast:
10	chr12:123636212..123638464-chr12:123674064..123676672,2	K562	blood:
11	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
12	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:
13	chr12:123635702..123637213-chr14:50040000..50041712,2	MCF-7	breast:
14	chr12:123635970..123638934-chr12:124084716..124087509,2	MCF-7	breast:
15	chr12:123634053..123636860-chr12:123645111..123649875,5	MCF-7	breast:
16	chr12:123635735..123637727-chr12:123641892..123644139,3	MCF-7	breast:
17	chr12:123634793..123637876-chr12:123640152..123646460,6	MCF-7	breast:
18	chr12:123526656..123529148-chr12:123634939..123636869,3	MCF-7	breast:
19	chr12:123635131..123637261-chr12:123715659..123718138,3	K562	blood:
20	chr12:123635116..123639048-chr12:123716065..123719246,5	K562	blood:
21	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
22	chr12:123540726..123542900-chr12:123635050..123636986,3	MCF-7	breast:
23	chr12:123458168..123460396-chr12:123636633..123638279,2	K562	blood:

No data

Variant related genes	Relation type
PITPNM2	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000090975	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000111364	Chromatin interaction

Extended variants
information (count: 169 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1047158	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051431	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060105	0.89[CEU][hapmap];0.97[TSI][hapmap]
rs10732573	0.80[CEU][hapmap]
rs10744147	0.94[EUR][1000 genomes]
rs10744149	0.82[AMR][1000 genomes]
rs10772993	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772995	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10772996	0.80[EUR][1000 genomes]
rs10772998	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10846478	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10846486	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10846487	0.81[EUR][1000 genomes]
rs11057189	0.80[EUR][1000 genomes]
rs11057192	0.85[ASW][hapmap];0.94[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11057204	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11057206	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11057210	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1106240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1106241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830103	0.84[CEU][hapmap]
rs12298826	0.94[CEU][hapmap];0.97[TSI][hapmap]
rs12304248	0.89[CEU][hapmap]
rs12316131	0.94[CEU][hapmap];0.97[TSI][hapmap]
rs12322888	0.94[CEU][hapmap];0.97[TSI][hapmap]
rs1260294	0.94[CEU][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs12817892	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12818067	0.82[EUR][1000 genomes]
rs12829456	0.82[EUR][1000 genomes]
rs1402274	0.85[ASW][hapmap];1.00[CEU][hapmap];0.85[GIH][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1402275	0.85[YRI][hapmap]
rs1463877	0.94[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap]
rs1533703	0.94[CEU][hapmap]
rs1569068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609520	0.80[CEU][hapmap]
rs1615350	0.89[CEU][hapmap];0.89[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs1615694	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1616131	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1616181	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1617156	0.94[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs1617434	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618679	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621194	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626899	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1627724	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630693	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1630905	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716156	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716157	0.85[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716158	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1716159	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716160	0.85[ASW][hapmap];1.00[CEU][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716162	0.88[AMR][1000 genomes]
rs1716164	0.85[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1716165	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716167	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716168	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][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];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716170	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]
rs1716171	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]
rs1716172	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1716173	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1716175	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1716176	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716177	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716182	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1716183	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1716185	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727290	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1727294	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1727296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1727300	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1727302	0.89[CEU][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs1727306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1727309	1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs1727310	0.91[EUR][1000 genomes]
rs1727313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727314	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727315	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[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];1.00[ASN][1000 genomes]
rs1727316	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727317	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1727318	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1727320	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1727322	0.87[EUR][1000 genomes]
rs1727323	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1727324	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1727325	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1727331	0.80[CEU][hapmap]
rs1727334	0.93[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790086	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1790087	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1790089	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1790090	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790095	0.85[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1790098	0.85[ASW][hapmap];1.00[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1790099	0.85[ASW][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1790100	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1790101	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1790102	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1790109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790116	0.83[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790119	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1790120	0.89[EUR][1000 genomes]
rs1790123	1.00[CEU][hapmap];0.83[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs1790124	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1790125	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1790130	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1790131	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1879380	1.00[CEU][hapmap];0.91[TSI][hapmap]
rs1969354	0.94[CEU][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs1980252	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs2049114	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2337934	0.94[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs2510885	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2682425	0.85[EUR][1000 genomes]
rs2682426	0.81[AMR][1000 genomes]
rs2682429	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682430	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2682431	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2682433	0.91[EUR][1000 genomes]
rs2682434	0.85[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2695476	0.91[EUR][1000 genomes]
rs2695478	1.00[CEU][hapmap];0.83[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2695479	0.91[EUR][1000 genomes]
rs2695480	0.90[EUR][1000 genomes]
rs2695481	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851435	0.89[EUR][1000 genomes]
rs2851436	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2851438	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851441	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2851447	0.88[CEU][hapmap]
rs2851450	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2851451	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2947099	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2950537	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3018098	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34341465	0.82[EUR][1000 genomes]
rs4372492	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4460848	0.83[ASW][hapmap];0.89[CEU][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs4759371	0.94[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs4759409	0.94[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4759415	0.94[CEU][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs520088	0.94[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap]
rs585522	0.89[TSI][hapmap]
rs58809476	0.82[EUR][1000 genomes]
rs641760	0.94[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap]
rs655293	0.94[CEU][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap]
rs7132277	0.89[CEU][hapmap];0.86[TSI][hapmap]
rs7299943	0.89[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs7304782	0.80[CEU][hapmap]
rs7313483	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs7953929	1.00[CEU][hapmap]
rs7980687	0.89[CEU][hapmap]
rs883263	0.88[CEU][hapmap];0.85[GIH][hapmap];0.97[TSI][hapmap]
rs884548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937564	0.94[CEU][hapmap];0.97[TSI][hapmap]
rs941305	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs941306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs949142	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9795522	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	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
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	esv3439435	chr12:123634349-123637047	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3440997	chr12:123634424-123637372	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1790108	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL
rs1790108	ANAPC5	cis	parietal	SCAN
rs1790108	LOC283378	Cis_1M	lymphoblastoid	RTeQTL
rs1790108	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs1790108	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs1790108	RP11-282O18.3	cis	Esophagus Mucosa	GTEx
rs1790108	CDK2AP1	cis	lymphoblastoid	seeQTL
rs1790108	CDK2AP1	cis	Esophagus Mucosa	GTEx
rs1790108	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs1790108	PITPNM2	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636000-123637000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:123636000-123637000	Enhancers	Fetal Brain Male	brain
3	chr12:123636200-123637000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:123636200-123637000	Enhancers	Spleen	Spleen
5	chr12:123636200-123637200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
6	chr12:123636400-123637000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr12:123636400-123637000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr12:123636400-123637000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:123636400-123637000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:123636400-123637000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:123636400-123637000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:123636400-123637000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr12:123636400-123637000	Enhancers	Primary B cells from cord blood	blood
14	chr12:123636400-123637000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:123636400-123637000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:123636400-123637000	Enhancers	Fetal Muscle Leg	muscle
17	chr12:123636400-123637000	Enhancers	Fetal Stomach	stomach
18	chr12:123636400-123637000	Enhancers	Lung	lung
19	chr12:123636400-123637000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:123636400-123637200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:123636400-123637200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:123636400-123637400	Enhancers	Liver	Liver
23	chr12:123636400-123637800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:123636400-123637800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:123636400-123637800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:123636400-123638000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr12:123636400-123639800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:123636400-123640000	Weak transcription	K562	blood
29	chr12:123636400-123640400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:123636400-123644600	Weak transcription	GM12878-XiMat	blood
31	chr12:123636400-123648000	Weak transcription	Fetal Kidney	kidney
32	chr12:123636400-123649000	Weak transcription	Small Intestine	intestine
33	chr12:123636400-123649200	Weak transcription	Brain Angular Gyrus	brain
34	chr12:123636400-123649800	Weak transcription	Ovary	ovary
35	chr12:123636400-123650200	Weak transcription	Aorta	Aorta
36	chr12:123636600-123637000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:123636600-123637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:123636600-123637000	Enhancers	Adipose Nuclei	Adipose
39	chr12:123636600-123637000	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:123636600-123637000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:123636600-123637000	Enhancers	Fetal Muscle Trunk	muscle
42	chr12:123636600-123637000	Enhancers	Pancreas	Pancrea
43	chr12:123636600-123637200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr12:123636600-123637200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:123636600-123637200	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:123636600-123637600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr12:123636600-123637800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr12:123636600-123638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:123636600-123638400	Weak transcription	Brain Germinal Matrix	brain
50	chr12:123636600-123639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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