Variant report

Variant	rs17657653
Chromosome Location	chr22:30752341-30752342
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:61)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr22:30752331-30753045	K562	blood:	n/a	chr22:30752599-30752617 chr22:30752959-30752977
2	MXI1	chr22:30752260-30753227	GM12878	blood:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
3	POLR2A	chr22:30752336-30753343	U87	brain:	n/a	n/a
4	POLR2A	chr22:30752194-30753312	PBDE	blood:	n/a	n/a
5	MAX	chr22:30752295-30753448	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr22:30752299-30753356	K562	blood:	n/a	n/a
7	RUNX3	chr22:30752123-30753317	GM12878	blood:	n/a	n/a
8	MAZ	chr22:30752175-30753720	IMR90	lung:	n/a	n/a
9	CHD1	chr22:30751997-30752926	GM12878	blood:	n/a	n/a
10	ZBTB33	chr22:30752327-30752797	GM12878	blood:	n/a	n/a
11	MYC	chr22:30752282-30753134	K562	blood:	n/a	n/a
12	SIN3AK20	chr22:30752160-30753454	H1-hESC	embryonic stem cell:	n/a	n/a
13	YY1	chr22:30752073-30753151	GM12892	blood:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888
14	WRNIP1	chr22:30752178-30753034	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:30752110-30753227	GM19193	blood:	n/a	n/a
16	POLR2A	chr22:30752094-30753275	K562	blood:	n/a	n/a
17	POLR2A	chr22:30752308-30753110	SK-N-SH	brain:	n/a	n/a
18	TBP	chr22:30752193-30753430	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr22:30751974-30753610	H1-neurons	neurons:	n/a	chr22:30753056-30753074
20	MAX	chr22:30752296-30753399	A549	lung:	n/a	n/a
21	POLR2A	chr22:30752109-30753561	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr22:30751893-30753114	GM12891	blood:	n/a	n/a
23	ATF2	chr22:30752214-30752732	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr22:30752222-30753324	SK-N-SH	brain:	n/a	n/a
25	SIN3A	chr22:30752126-30753538	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr22:30752272-30753604	GM12878	blood:	n/a	chr22:30752925-30752934 chr22:30752924-30752935 chr22:30752970-30752982 chr22:30753044-30753056 chr22:30752343-30752355
27	POLR2A	chr22:30751992-30753226	HepG2	liver:	n/a	n/a
28	POLR2A	chr22:30752313-30753225	GM12892	blood:	n/a	n/a
29	POLR2A	chr22:30751996-30753653	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr22:30752249-30753308	MCF10A-Er-Src	breast:	n/a	n/a
31	IRF1	chr22:30752339-30753034	K562	blood:	n/a	n/a
32	CHD1	chr22:30752158-30752892	H1-hESC	embryonic stem cell:	n/a	n/a
33	MXI1	chr22:30751792-30753683	SK-N-SH	brain:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
34	MTA3	chr22:30751792-30753550	GM12878	blood:	n/a	n/a
35	MXI1	chr22:30752314-30753274	HepG2	liver:	n/a	chr22:30752996-30753011 chr22:30752994-30753009
36	POLR2A	chr22:30752143-30753160	Raji	blood:	n/a	n/a
37	GABPA	chr22:30752313-30753344	SK-N-SH	brain:	n/a	chr22:30753050-30753064
38	POLR2A	chr22:30752337-30753119	K562	blood:	n/a	n/a
39	POLR2A	chr22:30751868-30753332	GM12892	blood:	n/a	n/a
40	POLR2A	chr22:30752088-30753356	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr22:30752174-30753504	MCF-7	breast:	n/a	n/a
42	IRF4	chr22:30752273-30752709	GM12878	blood:	n/a	n/a
43	YY1	chr22:30752319-30753245	HepG2	liver:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888
44	NFIC	chr22:30752270-30753226	ECC-1	luminal epithelium:	n/a	n/a
45	YY1	chr22:30752329-30753114	SK-N-SH_RA	brain:	n/a	chr22:30752701-30752712 chr22:30752352-30752366 chr22:30753044-30753058 chr22:30752868-30752888
46	TAF1	chr22:30752161-30753536	H1-neurons	neurons:	n/a	n/a
47	SIN3A	chr22:30752250-30753311	GM12878	blood:	n/a	n/a
48	POLR2A	chr22:30751987-30753262	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:30752290-30753526	H1-hESC	embryonic stem cell:	n/a	n/a
50	RUNX3	chr22:30752301-30753434	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30752307-30752357	MCF10A-Er-Src	breast:	n/a
2	chr22:30752307-30752357	GM19239	blood:	n/a
3	chr22:30752307-30752357	LNCaP	prostate:	n/a
4	chr22:30752307-30752357	AoSMC	blood vessel:	n/a
5	chr22:30752307-30752357	PrEC	prostate:	n/a
6	chr22:30752307-30752357	HPAEpiC	pulmonary alveolar:	n/a
7	chr22:30752307-30752357	NT2-D1	testis:	n/a
8	chr22:30752307-30752357	HEEpiC	esophagus:	n/a
9	chr22:30752307-30752357	PFSK-1	brain:	n/a
10	chr22:30752307-30752357	GM12878	blood:	n/a
11	chr22:30752307-30752357	HMEC	breast:	n/a
12	chr22:30752307-30752357	CMK	blood:	n/a
13	chr22:30752307-30752357	Jurkat	blood:	n/a
14	chr22:30752307-30752357	GM12892	blood:	n/a
15	chr22:30752307-30752357	Hepatocyte	liver:	n/a
16	chr22:30752307-30752357	HepG2	liver:	n/a
17	chr22:30752307-30752357	NH-A	brain:	n/a
18	chr22:30752307-30752357	SAEC	small airway:	n/a
19	chr22:30752307-30752357	HRE	kidney:	n/a
20	chr22:30752307-30752357	U87	brain:	n/a
21	chr22:30752307-30752357	SK-N-SH	brain:	n/a
22	chr22:30752307-30752357	H1-hESC	embryonic stem cell:	embryo
23	chr22:30752307-30752357	BE2_C	brain:	n/a
24	chr22:30752307-30752357	HCPEpiC	choroid plexus:	n/a
25	chr22:30752307-30752357	HUVEC	blood vessel:	n/a
26	chr22:30752307-30752357	A549	lung:	n/a
27	chr22:30752307-30752357	AG09309	skin:	n/a
28	chr22:30752307-30752357	HRPEpiC	eye:	n/a
29	chr22:30752307-30752357	ovcar-3	ovarian:	n/a
30	chr22:30752307-30752357	RPTEC	kidney:	n/a
31	chr22:30752307-30752357	SK-N-SH_RA	brain:	n/a
32	chr22:30752307-30752357	PANC-1	pancreas:	n/a
33	chr22:30752307-30752357	MCF-7	breast:	n/a
34	chr22:30752307-30752357	Hela-S3	cervix:	n/a
35	chr22:30752307-30752357	HNPCEpiC	eye:	n/a
36	chr22:30752307-30752357	HIPEpiC	eye:	n/a
37	chr22:30752307-30752357	NHDF-neo	bronchial:	n/a
38	chr22:30752307-30752357	HRCEpiC	kidney:	n/a
39	chr22:30752307-30752357	AG10803	skin:	n/a
40	chr22:30752307-30752357	NB4	blood:	n/a
41	chr22:30752307-30752357	BJ	skin:	n/a
42	chr22:30752307-30752357	HL-60	blood:	n/a
43	chr22:30752307-30752357	SKMC	muscle:	n/a
44	chr22:30752307-30752357	HCF	heart:	n/a
45	chr22:30752307-30752357	NHBE	bronchial:	n/a
46	chr22:30752307-30752357	GM06990	blood:	n/a
47	chr22:30752307-30752357	AG04449	skin:	fetal
48	chr22:30752307-30752357	ECC-1	luminal epithelium:	n/a
49	chr22:30752307-30752357	GM12891	blood:	n/a
50	chr22:30752307-30752357	SK-N-MC	brain:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30692983..30695862-chr22:30751814..30754169,4	MCF-7	breast:
2	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
3	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
4	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
5	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
6	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
7	chr10:120840013..120840920-chr22:30752127..30753112,2	Hela-S3	cervix:
8	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
9	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
10	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
11	chr22:30750563..30752352-chr22:30759520..30761812,2	MCF-7	breast:
12	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
13	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
14	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
15	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:
16	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
17	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC157	TF binding region
CCDC157	CpG island
ENSG00000099992	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000107581	Chromatin interaction
ENSG00000248751	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1002189	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076271	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1076295	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1076296	0.94[ASN][1000 genomes]
rs1076297	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076298	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1076299	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079227	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11705092	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11912350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11913885	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13053595	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13054303	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13055431	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13056253	0.92[ASN][1000 genomes]
rs13056326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13057340	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13057861	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656850	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657174	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17657701	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17658238	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17730485	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17730538	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736937	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1990268	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2229807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299825	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28360656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34367123	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34995457	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35289401	0.86[ASN][1000 genomes]
rs35293738	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35537171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35711436	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35782599	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4390846	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820007	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820835	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4820836	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820838	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4820839	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4823089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55979575	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56300819	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5749062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749067	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749075	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749076	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749077	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749080	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749081	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749086	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749087	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5749088	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753058	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753060	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753061	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753069	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753070	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753082	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753095	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753096	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753097	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753101	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753105	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753106	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753110	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753113	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5753127	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5763928	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5763932	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59731356	0.86[ASN][1000 genomes]
rs5997623	0.83[AFR][1000 genomes]
rs61322750	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62228968	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7284531	0.92[ASN][1000 genomes]
rs7287175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7287908	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7288947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737750	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs737813	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs737948	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740084	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs740220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740222	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740223	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757868	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8136826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608885	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17657653	RP1-130H16.16	cis	Thyroid	GTEx
rs17657653	RNF215	cis	Heart Left Ventricle	GTEx
rs17657653	RP1-130H16.16	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30750600-30752600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr22:30750600-30754400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:30750800-30752400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr22:30750800-30752400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr22:30751000-30752400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr22:30751000-30752400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr22:30751000-30752400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:30751200-30752400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30751200-30752400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr22:30751200-30752400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30751200-30752400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr22:30751200-30752400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr22:30751200-30752600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr22:30751200-30752600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:30751200-30752600	Flanking Active TSS	Colonic Mucosa	Colon
16	chr22:30751200-30752800	Transcr. at gene 5' and 3'	Dnd41	blood
17	chr22:30751200-30753600	Active TSS	Ovary	ovary
18	chr22:30751200-30753600	Active TSS	A549	lung
19	chr22:30751400-30752400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr22:30751400-30752400	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr22:30751400-30752400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr22:30751400-30752400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:30751400-30752400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:30751400-30752400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr22:30751400-30752400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:30751400-30752400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr22:30751400-30752400	Flanking Active TSS	Liver	Liver
28	chr22:30751400-30752400	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr22:30751400-30752400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr22:30751400-30752400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:30751400-30752400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr22:30751400-30752400	Flanking Active TSS	Fetal Brain Female	brain
33	chr22:30751400-30752400	Flanking Active TSS	Fetal Thymus	thymus
34	chr22:30751400-30752400	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr22:30751400-30752400	Flanking Active TSS	Right Ventricle	heart
36	chr22:30751400-30752400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr22:30751400-30752400	Flanking Active TSS	HUVEC	blood vessel
38	chr22:30751400-30752600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr22:30751400-30754000	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr22:30751400-30754200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr22:30751600-30752400	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr22:30751600-30752400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr22:30751600-30752400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr22:30751600-30753200	Active TSS	Fetal Muscle Trunk	muscle
45	chr22:30751600-30753600	Active TSS	Psoas Muscle	Psoas
46	chr22:30751600-30753800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr22:30751600-30754000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr22:30751600-30754200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr22:30751600-30754200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr22:30751800-30752400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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