Variant report

Variant	rs4795355
Chromosome Location	chr17:37427382-37427383
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	chr17:37427340-37427490	HUVEC	blood vessel:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
2	CTCF	chr17:37427340-37427490	AG04449	skin:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
3	CTCF	chr17:37427360-37427510	HRE	kidney:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
4	CTCF	chr17:37427340-37427490	AoAF	blood vessel:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
5	CTCF	chr17:37427360-37427510	HCT-116	colon:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
6	CTCF	chr17:37427275-37427578	K562	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
7	CTCF	chr17:37427340-37427490	GM12870	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
8	CTCF	chr17:37427345-37427496	HepG2	liver:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
9	CTCF	chr17:37427354-37427496	ProgFib	skin:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
10	CTCF	chr17:37427330-37427514	GM10266	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
11	CTCF	chr17:37427380-37427482	GM20000	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
12	CEBPB	chr17:37427137-37427514	K562	blood:	n/a	chr17:37427324-37427335
13	CTCF	chr17:37427294-37427561	K562	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
14	MAFK	chr17:37427151-37427443	HepG2	liver:	n/a	n/a
15	RAD21	chr17:37427248-37427576	GM12878	blood:	n/a	chr17:37427428-37427440 chr17:37427423-37427442 chr17:37427428-37427438 chr17:37427426-37427439
16	CTCF	chr17:37427360-37427510	AG04450	lung:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
17	CTCF	chr17:37427317-37427518	LNCaP	prostate:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
18	CTCF	chr17:37427300-37427450	GM12864	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
19	CTCF	chr17:37427360-37427510	NHEK	skin:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
20	CTCF	chr17:37427360-37427510	NB4	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
21	CTCF	chr17:37427360-37427510	GM12873	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
22	CTCF	chr17:37427380-37427530	HEK293	kidney:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
23	CEBPB	chr17:37427148-37427511	Hela-S3	cervix:	n/a	chr17:37427324-37427335
24	CTCF	chr17:37427346-37427463	GM10248	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
25	CTCF	chr17:37427315-37427524	Spleen_OC	spleen:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
26	CTCF	chr17:37427260-37427410	HFF	foreskin:	n/a	n/a
27	CTCF	chr17:37427347-37427482	SK-N-SH_RA	brain:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
28	CTCF	chr17:37427240-37427612	IMR90	lung:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
29	CTCF	chr17:37427326-37427504	GM12878	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
30	CTCF	chr17:37427360-37427510	HA-sp	spinal cord:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
31	RAD21	chr17:37427180-37427646	A549	lung:	n/a	chr17:37427428-37427440 chr17:37427423-37427442 chr17:37427428-37427438 chr17:37427426-37427439
32	MAX	chr17:37427294-37427456	NB4	blood:	n/a	chr17:37427324-37427333
33	CTCF	chr17:37427311-37427533	Gliobla	brain:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
34	CTCF	chr17:37427360-37427510	NHDF-neo	bronchial:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
35	CTCF	chr17:37427360-37427510	AoAF	blood vessel:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
36	CTCF	chr17:37427352-37427515	Pancreas_OC	pancreas:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
37	POLR2A	chr17:37427190-37427509	SK-N-MC	brain:	n/a	n/a
38	CTCF	chr17:37427359-37427497	Kidney_OC	kidney:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
39	ZNF143	chr17:37427242-37427549	K562	blood:	n/a	n/a
40	CTCF	chr17:37427303-37427553	LNCaP	prostate:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
41	CTCF	chr17:37427380-37427530	HPAF	blood vessel:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
42	CTCF	chr17:37427380-37427530	NHLF	lung:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
43	CTCF	chr17:37427360-37427510	HUVEC	blood vessel:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
44	ARID3A	chr17:37427245-37427585	K562	blood:	n/a	n/a
45	CTCF	chr17:37427260-37427410	GM12868	blood:	n/a	n/a
46	RAD21	chr17:37427257-37427541	MCF-7	breast:	n/a	chr17:37427428-37427440 chr17:37427423-37427442 chr17:37427428-37427438 chr17:37427426-37427439
47	CTCF	chr17:37427340-37427490	AG09319	gingival:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
48	CTCF	chr17:37427380-37427530	HRE	kidney:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
49	CTCF	chr17:37427340-37427490	GM12872	blood:	n/a	chr17:37427425-37427438 chr17:37427422-37427440
50	SMC3	chr17:37427240-37427611	K562	blood:	n/a	chr17:37427424-37427438

Variant related genes	Relation type
FBXL20	TF binding region

Extended variants
information (count: 206 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs10221223	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10432030	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10432031	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10445306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10491128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10491129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11078893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078894	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs11078895	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs11078896	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11078901	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11655972	0.88[ASN][1000 genomes]
rs11657899	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11867312	0.81[EUR][1000 genomes]
rs11869109	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11869259	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11869323	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12150047	0.82[CHB][hapmap]
rs12150493	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12452509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12452880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs12600625	0.82[ASN][1000 genomes]
rs12600751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12938099	0.81[CHB][hapmap]
rs12938268	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12947620	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap]
rs12950186	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs13341996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1966915	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966916	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2024073	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2061338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061342	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2100651	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2168785	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2302073	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs2338755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2338756	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2338795	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2338797	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2338798	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2338799	0.87[CHB][hapmap]
rs2338800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2338801	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2879258	0.88[CHB][hapmap];0.88[ASN][1000 genomes]
rs2879259	0.86[ASN][1000 genomes]
rs33933929	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34363096	0.80[EUR][1000 genomes]
rs34432983	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34473775	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34597616	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35285898	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35546703	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35667594	0.81[EUR][1000 genomes]
rs3744348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744349	0.82[CHB][hapmap]
rs3964723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4325601	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375688	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4390625	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs4410117	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4511574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4516267	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs4794807	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4794810	0.81[EUR][1000 genomes]
rs4795356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4795357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4795358	0.82[CHB][hapmap]
rs4795359	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4795364	0.81[ASN][1000 genomes]
rs4795369	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs55689507	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57399933	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57933226	0.84[ASN][1000 genomes]
rs582088	0.86[ASN][1000 genomes]
rs582176	0.88[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs583980	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584377	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs585961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587343	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587880	0.85[ASN][1000 genomes]
rs588193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590051	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs593480	0.92[CHB][hapmap];0.86[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs594794	0.86[ASN][1000 genomes]
rs597069	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs600010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs602282	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs602688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs612209	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs620686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62074994	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs632202	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs632606	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs634365	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs638201	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs644173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs649180	0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs650106	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6503500	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs6503501	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6503502	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6503503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6503504	0.82[CHB][hapmap]
rs6503506	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6503513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs651827	0.86[ASN][1000 genomes]
rs665413	0.82[ASN][1000 genomes]
rs667193	0.82[ASN][1000 genomes]
rs667239	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs676882	0.82[CHB][hapmap]
rs677888	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679995	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68178216	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs683948	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7208274	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7208487	0.82[CHB][hapmap]
rs7208714	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7210488	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7212621	0.82[CHB][hapmap]
rs7215889	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7218074	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7218484	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7218670	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7220650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7221875	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7222252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7223331	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7223438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73293051	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7359658	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7405667	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7501488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7503081	0.81[ASN][1000 genomes]
rs752314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs755500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs801417	0.82[ASN][1000 genomes]
rs801418	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs801419	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801420	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs801427	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs801429	0.87[ASN][1000 genomes]
rs8065879	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8066704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8067302	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8067948	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8068427	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8069451	0.95[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.90[EUR][1000 genomes]
rs8070695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8072297	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8072351	0.82[ASN][1000 genomes]
rs8073907	0.88[CHB][hapmap];0.87[ASN][1000 genomes]
rs8076462	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8076494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8076546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8077104	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8079303	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8079355	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8079560	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8079590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8079662	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8081033	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8081220	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8081338	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646419	0.82[CHB][hapmap]
rs9747342	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9890198	0.86[ASN][1000 genomes]
rs9892055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9892675	0.84[ASN][1000 genomes]
rs9893735	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs9894500	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9894586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9894864	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9896913	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9898170	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9898773	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9901219	0.83[ASN][1000 genomes]
rs9903363	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9904334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9904919	1.00[CEU][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9905432	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9905617	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9906612	0.82[CHB][hapmap]
rs9908131	0.82[CHB][hapmap]
rs9908760	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9909064	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9913320	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9916302	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9944411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9944459	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	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
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4795355	PGAP3	cis	Heart Left Ventricle	GTEx
rs4795355	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37401000-37433000	Weak transcription	Fetal Heart	heart
2	chr17:37401000-37437000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:37401400-37437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:37405000-37437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:37407200-37439200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:37407600-37427400	Strong transcription	Placenta	Placenta
7	chr17:37407800-37431400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr17:37408000-37440200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:37408000-37441600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
11	chr17:37408200-37442400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr17:37408400-37437400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:37409000-37432800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:37409000-37438800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:37409200-37431600	Strong transcription	Fetal Thymus	thymus
16	chr17:37409400-37437400	Weak transcription	HUVEC	blood vessel
17	chr17:37409800-37437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:37410000-37437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:37411600-37437400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:37412200-37427400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr17:37413600-37431600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:37414400-37432000	Strong transcription	Fetal Stomach	stomach
24	chr17:37415000-37443600	Weak transcription	Psoas Muscle	Psoas
25	chr17:37415200-37427600	Strong transcription	Liver	Liver
26	chr17:37415200-37433800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:37416800-37427600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:37417400-37458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:37417600-37437400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr17:37417600-37460800	Weak transcription	Fetal Brain Male	brain
31	chr17:37417800-37433200	Weak transcription	GM12878-XiMat	blood
32	chr17:37417800-37437000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr17:37418000-37437200	Weak transcription	Stomach Mucosa	stomach
34	chr17:37418400-37440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr17:37419000-37429200	Weak transcription	Colon Smooth Muscle	Colon
36	chr17:37419000-37430400	Weak transcription	HepG2	liver
37	chr17:37419800-37431200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr17:37420000-37429800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:37420000-37430200	Weak transcription	Right Ventricle	heart
40	chr17:37420600-37429600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:37420600-37430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:37420600-37437000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:37420800-37429800	Weak transcription	Gastric	stomach
44	chr17:37420800-37430200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr17:37420800-37430400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:37421000-37427400	Strong transcription	Adipose Nuclei	Adipose
47	chr17:37421600-37430400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:37421600-37436600	Weak transcription	K562	blood
49	chr17:37421600-37437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:37421600-37437000	Weak transcription	A549	lung

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