Variant report

Variant	rs2303316
Chromosome Location	chr17:37704217-37704218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:37704200-37704350	HMEC	breast:	n/a	n/a
2	MAX	chr17:37704030-37704435	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr17:37704100-37704250	SK-N-SH_RA	brain:	n/a	chr17:37704107-37704123 chr17:37704106-37704124
4	RFX5	chr17:37704114-37704350	HepG2	liver:	n/a	n/a
5	NFYA	chr17:37704066-37704405	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr17:37704160-37704430	GM12878	blood:	n/a	chr17:37704344-37704365 chr17:37704343-37704359 chr17:37704342-37704360
7	CTCF	chr17:37704100-37704370	HUVEC	blood vessel:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
8	CTCF	chr17:37704180-37704330	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr17:37704215-37704436	SK-N-SH_RA	brain:	n/a	chr17:37704344-37704365 chr17:37704343-37704359 chr17:37704342-37704360
10	GATA1	chr17:37703966-37704512	PBDE	blood:	n/a	n/a
11	CTCF	chr17:37703900-37704529	K562	blood:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
12	SMC3	chr17:37703839-37704859	SK-N-SH	brain:	n/a	chr17:37704108-37704122 chr17:37704344-37704358
13	CTCF	chr17:37703964-37704486	LNCaP	prostate:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
14	STAT3	chr17:37704208-37704408	MCF10A-Er-Src	breast:	n/a	n/a
15	SMC3	chr17:37703914-37704592	Hela-S3	cervix:	n/a	chr17:37704108-37704122 chr17:37704344-37704358
16	RAD21	chr17:37703930-37704592	H1-hESC	embryonic stem cell:	n/a	chr17:37704344-37704358 chr17:37704343-37704362 chr17:37704546-37704553
17	CTCF	chr17:37703997-37704483	Hela-S3	cervix:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
18	WRNIP1	chr17:37704171-37704400	GM12878	blood:	n/a	n/a
19	MYC	chr17:37703961-37704478	K562	blood:	n/a	n/a
20	CTCF	chr17:37704004-37704512	Spleen_OC	spleen:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
21	CTCF	chr17:37704100-37704250	SAEC	small airway:	n/a	chr17:37704107-37704123 chr17:37704106-37704124
22	GATA1	chr17:37703911-37704372	PBDEFetal	blood:	n/a	n/a
23	SMC3	chr17:37704038-37704745	GM12878	blood:	n/a	chr17:37704108-37704122 chr17:37704344-37704358
24	CTCF	chr17:37703899-37704565	H1-hESC	embryonic stem cell:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
25	CTCF	chr17:37703906-37704509	T-47D	breast:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
26	MAFK	chr17:37704100-37704455	K562	blood:	n/a	n/a
27	CTCF	chr17:37703961-37704486	A549	lung:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
28	CTCF	chr17:37703741-37704613	HCT-116	colon:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
29	CTCF	chr17:37703764-37705244	SK-N-SH	brain:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
30	CTCF	chr17:37704100-37704390	GM12870	blood:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
31	FOXM1	chr17:37704104-37704523	GM12878	blood:	n/a	n/a
32	CTCF	chr17:37704100-37704250	NHEK	skin:	n/a	chr17:37704107-37704123 chr17:37704106-37704124
33	CTCF	chr17:37704180-37704330	MCF-7	breast:	n/a	n/a
34	CTCF	chr17:37704100-37704390	K562	blood:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
35	MAZ	chr17:37704195-37704442	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr17:37703932-37704576	K562	blood:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
37	ZNF143	chr17:37703978-37704536	GM12878	blood:	n/a	n/a
38	CTCF	chr17:37703965-37704479	MCF-7	breast:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
39	CTCF	chr17:37704037-37704476	GM10248	blood:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
40	CTCF	chr17:37703984-37704480	GM10266	blood:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
41	RAD21	chr17:37703815-37704720	HCT-116	colon:	n/a	chr17:37704344-37704358 chr17:37704343-37704362 chr17:37704546-37704553
42	CTCF	chr17:37703978-37704467	H1-hESC	embryonic stem cell:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
43	ZNF143	chr17:37704080-37704396	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr17:37704212-37704486	ECC-1	luminal epithelium:	n/a	chr17:37704344-37704365 chr17:37704343-37704359 chr17:37704342-37704360
45	RAD21	chr17:37704049-37704560	GM12878	blood:	n/a	chr17:37704344-37704358 chr17:37704343-37704362 chr17:37704546-37704553
46	RAD21	chr17:37703729-37704593	A549	lung:	n/a	chr17:37704344-37704358 chr17:37704343-37704362 chr17:37704546-37704553
47	CTCF	chr17:37703577-37705247	A549	lung:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360
48	SMC3	chr17:37703952-37704567	HepG2	liver:	n/a	chr17:37704108-37704122 chr17:37704344-37704358
49	CTCF	chr17:37704200-37704350	HAc	cerebellar:	n/a	n/a
50	CTCF	chr17:37704100-37704390	SAEC	small airway:	n/a	chr17:37704344-37704365 chr17:37704107-37704123 chr17:37704343-37704359 chr17:37704106-37704124 chr17:37704342-37704360

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37703880..37705005-chr17:38136510..38137377,3	K562	blood:
2	chr17:37682821..37683713-chr17:37704156..37704663,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-233P	TF binding region
CDK12	TF binding region
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10445306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10491128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1053651	0.89[CEU][hapmap]
rs1054488	0.83[ASN][1000 genomes]
rs10775391	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1077715	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10852933	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11078898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11078901	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11078902	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11078903	0.85[CEU][hapmap]
rs11078904	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11078905	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078906	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078907	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078910	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078911	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078912	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078913	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078915	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078916	0.81[AFR][1000 genomes]
rs11654018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654935	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11655531	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11657058	0.82[CHB][hapmap];0.85[ASN][1000 genomes]
rs11657153	0.85[ASN][1000 genomes]
rs11657899	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11658219	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658678	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11868029	0.81[ASN][1000 genomes]
rs11868030	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11870631	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12150047	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs12449852	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs12450559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12452509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs12452682	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12452880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12600751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12936646	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12936996	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12937013	0.81[ASN][1000 genomes]
rs12938099	0.81[CHB][hapmap]
rs12942352	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12942360	0.81[EUR][1000 genomes]
rs12942391	0.86[ASN][1000 genomes]
rs12947281	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12947506	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs12947620	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]
rs12948906	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12952384	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13341996	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs1619021	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874226	0.86[ASN][1000 genomes]
rs1874228	0.85[CEU][hapmap]
rs1877030	0.81[ASN][1000 genomes]
rs2018026	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2271308	0.90[CEU][hapmap]
rs2338799	0.87[CHB][hapmap]
rs34957982	0.82[EUR][1000 genomes]
rs35335692	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs364989	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3889368	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs412430	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4239222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4286140	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4332770	0.86[ASN][1000 genomes]
rs4357971	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4390625	0.85[CEU][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap]
rs4392104	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs439537	0.86[ASN][1000 genomes]
rs4462633	0.82[ASN][1000 genomes]
rs4488484	0.86[ASN][1000 genomes]
rs4511574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs4794813	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4794814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795356	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs4795357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4795358	0.82[CHB][hapmap]
rs4795369	0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap]
rs4795376	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4795377	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4795379	0.82[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs4795381	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4795382	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4795384	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4795385	0.86[ASN][1000 genomes]
rs4795388	0.85[CEU][hapmap]
rs55660616	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62077464	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6503504	0.81[CHB][hapmap]
rs6503507	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs6503513	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6503517	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6503518	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6503519	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6503521	0.86[ASN][1000 genomes]
rs7208252	0.85[CHD][hapmap]
rs7208487	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs7212621	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs7216086	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221875	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7223438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs7225096	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7405770	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7406928	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7501488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs7503069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7503377	0.82[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs7503514	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7503705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8065963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8067884	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8069074	0.82[CHB][hapmap];0.90[CHD][hapmap];0.83[ASN][1000 genomes]
rs8069451	0.95[CEU][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap]
rs8075737	0.86[ASN][1000 genomes]
rs8076494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs8076546	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs8081528	0.81[ASN][1000 genomes]
rs8081780	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8182252	0.86[ASN][1000 genomes]
rs903507	0.86[ASN][1000 genomes]
rs9646419	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs9892055	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs9894586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9904919	1.00[CEU][hapmap]
rs9906612	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs9908131	0.82[CHB][hapmap];0.87[CHD][hapmap]
rs9915323	0.90[CEU][hapmap]
rs9972882	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
11	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2303316	SLFN14	cis	parietal	SCAN
rs2303316	NEUROD2	cis	parietal	SCAN
rs2303316	PNMT	cis	parietal	SCAN
rs2303316	DHRS11	cis	cerebellum	SCAN
rs2303316	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs2303316	PGAP3	cis	Heart Left Ventricle	GTEx
rs2303316	C17orf37	cis	uninvolved skin	skin_eQTL
rs2303316	PGAP3	cis	cerebellum	SCAN
rs2303316	PIGW	cis	parietal	SCAN
rs2303316	CCL4	cis	cerebellum	SCAN
rs2303316	RDM1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37660600-37704400	Weak transcription	Stomach Mucosa	stomach
2	chr17:37683800-37719400	Weak transcription	Psoas Muscle	Psoas
3	chr17:37687400-37706600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:37687800-37705000	Weak transcription	NHLF	lung
5	chr17:37687800-37709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr17:37687800-37729800	Weak transcription	Small Intestine	intestine
7	chr17:37688000-37707400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:37688400-37704600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:37688400-37705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:37688400-37705600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:37688400-37708000	Weak transcription	Gastric	stomach
12	chr17:37688400-37709600	Weak transcription	Colonic Mucosa	Colon
13	chr17:37688400-37711600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:37688400-37711600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:37688600-37705200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:37689000-37704400	Weak transcription	Fetal Brain Female	brain
17	chr17:37689000-37707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:37689000-37708000	Weak transcription	NH-A	brain
19	chr17:37689000-37719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:37689200-37704600	Weak transcription	Hela-S3	cervix
21	chr17:37689200-37711600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr17:37690800-37709400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr17:37692000-37704800	Weak transcription	HSMM	muscle
24	chr17:37693000-37719200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr17:37693200-37706000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:37695400-37727400	Weak transcription	K562	blood
27	chr17:37695600-37707200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:37695800-37707200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr17:37695800-37707400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr17:37695800-37707800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr17:37695800-37712400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:37695800-37723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:37696600-37704400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:37697400-37709600	Weak transcription	HMEC	breast
35	chr17:37699200-37706600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:37699800-37705800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:37699800-37706800	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr17:37699800-37714800	Strong transcription	Ovary	ovary
39	chr17:37700000-37704600	Weak transcription	HSMMtube	muscle
40	chr17:37700000-37708000	Weak transcription	Pancreas	Pancrea
41	chr17:37700200-37704600	Strong transcription	Adipose Nuclei	Adipose
42	chr17:37700200-37725800	Strong transcription	Placenta	Placenta
43	chr17:37700400-37705400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr17:37700400-37709600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:37700600-37704400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr17:37701000-37704400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr17:37701000-37704400	Strong transcription	Fetal Muscle Leg	muscle
48	chr17:37701000-37707000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr17:37701000-37714600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr17:37701000-37714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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