Variant report

Variant	rs2449272
Chromosome Location	chr1:225117013-225117014
allele	A/C
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	TEAD4	chr1:225116980-225117738	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr1:225116926-225117875	K562	blood:	n/a	chr1:225117594-225117603
3	E2F6	chr1:225116797-225117930	A549	lung:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117067-225117081 chr1:225117734-225117744
4	TEAD4	chr1:225116902-225117602	H1-hESC	embryonic stem cell:	n/a	n/a
5	EGR1	chr1:225116926-225117121	K562	blood:	n/a	n/a
6	POLR2A	chr1:225116662-225118212	MCF10A-Er-Src	breast:	n/a	n/a
7	RFX5	chr1:225116926-225117831	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr1:225116954-225117823	SH-SY5Y	brain:	n/a	n/a
9	CEBPB	chr1:225116949-225117427	K562	blood:	n/a	n/a
10	TEAD4	chr1:225116976-225117772	ECC-1	luminal epithelium:	n/a	n/a
11	HDAC2	chr1:225116892-225117687	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:225116968-225117809	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr1:225116893-225117887	HepG2	liver:	n/a	chr1:225117594-225117603
14	POLR2A	chr1:225116988-225118465	K562	blood:	n/a	n/a
15	CBX3	chr1:225116851-225117850	K562	blood:	n/a	n/a
16	POLR2A	chr1:225116994-225117830	HCT-116	colon:	n/a	n/a
17	MYC	chr1:225116900-225118234	MCF10A-Er-Src	breast:	n/a	chr1:225117594-225117603
18	NR2F2	chr1:225116935-225117640	MCF-7	breast:	n/a	n/a
19	CBX3	chr1:225116923-225117782	HCT-116	colon:	n/a	n/a
20	ZNF143	chr1:225116992-225118208	K562	blood:	n/a	chr1:225117734-225117744
21	SETDB1	chr1:225116947-225117653	U2OS	brain:	n/a	n/a
22	EGR1	chr1:225116904-225117877	K562	blood:	n/a	chr1:225117626-225117637 chr1:225117581-225117591 chr1:225117625-225117639 chr1:225117625-225117638 chr1:225117630-225117640 chr1:225117625-225117638 chr1:225117627-225117636 chr1:225117627-225117637 chr1:225117732-225117741
23	MAX	chr1:225116874-225118116	A549	lung:	n/a	chr1:225117594-225117603
24	MXI1	chr1:225116765-225118477	SK-N-SH	brain:	n/a	n/a
25	TAF1	chr1:225116962-225117879	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr1:225117012-225118256	K562	blood:	n/a	chr1:225117594-225117603
27	POLR2A	chr1:225116781-225118278	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr1:225116736-225118300	HCT-116	colon:	n/a	chr1:225117594-225117603
29	EGR1	chr1:225116823-225117875	HCT-116	colon:	n/a	chr1:225117626-225117637 chr1:225117581-225117591 chr1:225117625-225117639 chr1:225117625-225117638 chr1:225117630-225117640 chr1:225117625-225117638 chr1:225117627-225117636 chr1:225117627-225117637 chr1:225117732-225117741
30	MAX	chr1:225116839-225117877	MCF-7	breast:	n/a	chr1:225117594-225117603
31	GATA3	chr1:225116927-225117756	MCF-7	breast:	n/a	n/a
32	GTF2F1	chr1:225116913-225117749	Hela-S3	cervix:	n/a	n/a
33	TAF1	chr1:225116988-225117885	ECC-1	luminal epithelium:	n/a	n/a
34	MYC	chr1:225116994-225117962	NB4	blood:	n/a	chr1:225117594-225117603
35	GATA3	chr1:225116924-225117660	T-47D	breast:	n/a	n/a
36	POLR2A	chr1:225116983-225117787	H1-hESC	embryonic stem cell:	n/a	n/a
37	STAT3	chr1:225116946-225117910	MCF10A-Er-Src	breast:	n/a	chr1:225117493-225117504
38	ZBTB7A	chr1:225116880-225117662	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr1:225116968-225117763	MCF-7	breast:	n/a	chr1:225117594-225117603
40	TCF12	chr1:225116999-225117847	ECC-1	luminal epithelium:	n/a	n/a
41	E2F6	chr1:225116931-225118463	K562	blood:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117067-225117081 chr1:225117734-225117744
42	CHD2	chr1:225117009-225117563	HepG2	liver:	n/a	n/a
43	ZMIZ1	chr1:225116967-225117699	K562	blood:	n/a	n/a
44	MAX	chr1:225116951-225118180	NB4	blood:	n/a	chr1:225117594-225117603
45	POLR2A	chr1:225117010-225117764	PANC-1	pancreas:	n/a	n/a
46	NR2F2	chr1:225116917-225117425	MCF-7	breast:	n/a	n/a
47	YY1	chr1:225116908-225117663	H1-hESC	embryonic stem cell:	n/a	chr1:225117589-225117603
48	NRF1	chr1:225116961-225118053	SK-N-SH	brain:	n/a	chr1:225117357-225117368 chr1:225117586-225117595
49	E2F6	chr1:225116908-225117835	K562	blood:	n/a	chr1:225117728-225117738 chr1:225117732-225117741 chr1:225117067-225117081 chr1:225117734-225117744
50	TEAD4	chr1:225116856-225117902	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:225116995-225117045	GM12892	blood:	n/a
2	chr1:225116995-225117045	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:225116995-225117045	HMEC	breast:	n/a
4	chr1:225116995-225117045	NHDF-neo	bronchial:	n/a
5	chr1:225116995-225117045	HEEpiC	esophagus:	n/a
6	chr1:225116995-225117045	GM19239	blood:	n/a
7	chr1:225116995-225117045	Caco-2	colon:	n/a
8	chr1:225116995-225117045	NB4	blood:	n/a
9	chr1:225116995-225117045	ovcar-3	ovarian:	n/a
10	chr1:225116995-225117045	ProgFib	skin:	n/a
11	chr1:225116995-225117045	HRPEpiC	eye:	n/a
12	chr1:225116995-225117045	SAEC	small airway:	n/a
13	chr1:225116995-225117045	A549	lung:	n/a
14	chr1:225116995-225117045	NHBE	bronchial:	n/a
15	chr1:225116995-225117045	HIPEpiC	eye:	n/a
16	chr1:225116995-225117045	PFSK-1	brain:	n/a
17	chr1:225116995-225117045	AG04449	skin:	fetal
18	chr1:225116995-225117045	AG09309	skin:	n/a
19	chr1:225116995-225117045	AG04450	lung:	fetal
20	chr1:225116995-225117045	HCM	heart:	n/a
21	chr1:225116995-225117045	SKMC	muscle:	n/a
22	chr1:225116995-225117045	GM06990	blood:	n/a
23	chr1:225116995-225117045	MCF10A-Er-Src	breast:	n/a
24	chr1:225116995-225117045	HAEpiC	amniotic membrane:	n/a
25	chr1:225116995-225117045	BE2_C	brain:	n/a
26	chr1:225116995-225117045	ECC-1	luminal epithelium:	n/a
27	chr1:225116995-225117045	H1-hESC	embryonic stem cell:	embryo
28	chr1:225116995-225117045	LNCaP	prostate:	n/a
29	chr1:225116995-225117045	AoSMC	blood vessel:	n/a
30	chr1:225116995-225117045	U87	brain:	n/a
31	chr1:225116995-225117045	NH-A	brain:	n/a
32	chr1:225116995-225117045	Hepatocyte	liver:	n/a
33	chr1:225116995-225117045	HUVEC	blood vessel:	n/a
34	chr1:225116995-225117045	AG10803	skin:	n/a
35	chr1:225116995-225117045	GM12891	blood:	n/a
36	chr1:225116995-225117045	AG09319	gingival:	n/a
37	chr1:225116995-225117045	HepG2	liver:	n/a
38	chr1:225116995-225117045	Jurkat	blood:	n/a
39	chr1:225116995-225117045	PANC-1	pancreas:	n/a
40	chr1:225116995-225117045	HCPEpiC	choroid plexus:	n/a
41	chr1:225116995-225117045	T-47D	breast:	n/a
42	chr1:225116995-225117045	RPTEC	kidney:	n/a
43	chr1:225116995-225117045	Hela-S3	cervix:	n/a
44	chr1:225116995-225117045	HEK293	kidney:	embryo
45	chr1:225116995-225117045	HNPCEpiC	eye:	n/a
46	chr1:225116995-225117045	IMR90	lung:	fetal
47	chr1:225116995-225117045	SK-N-MC	brain:	n/a
48	chr1:225116995-225117045	HCF	heart:	n/a
49	chr1:225116995-225117045	SK-N-SH	brain:	n/a
50	chr1:225116995-225117045	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225116699..225117668-chr3:73160108..73161088,2	Hela-S3	cervix:

Variant related genes	Relation type
DNAH14	TF binding region
DNAH14	CpG island
ENSG00000223247	Chromatin interaction

Extended variants
information (count: 226 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:223)

rs_ID	r²[population]
rs10399959	1.00[EUR][1000 genomes]
rs10495232	1.00[EUR][1000 genomes]
rs1078794	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10915724	1.00[EUR][1000 genomes]
rs10915732	1.00[EUR][1000 genomes]
rs11805350	1.00[EUR][1000 genomes]
rs12059834	1.00[EUR][1000 genomes]
rs12061265	1.00[EUR][1000 genomes]
rs12066443	1.00[EUR][1000 genomes]
rs12069808	1.00[EUR][1000 genomes]
rs12071270	1.00[EUR][1000 genomes]
rs12071776	1.00[EUR][1000 genomes]
rs12074382	1.00[EUR][1000 genomes]
rs12075769	1.00[EUR][1000 genomes]
rs12079808	1.00[EUR][1000 genomes]
rs12080062	1.00[EUR][1000 genomes]
rs12086473	1.00[EUR][1000 genomes]
rs12086802	1.00[EUR][1000 genomes]
rs12097593	1.00[EUR][1000 genomes]
rs12239937	1.00[EUR][1000 genomes]
rs13376360	1.00[EUR][1000 genomes]
rs1395115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1480102	1.00[EUR][1000 genomes]
rs1506072	0.88[LWK][hapmap];0.90[MKK][hapmap]
rs1580956	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844321	1.00[EUR][1000 genomes]
rs16844324	1.00[EUR][1000 genomes]
rs16844328	1.00[EUR][1000 genomes]
rs16844331	1.00[EUR][1000 genomes]
rs16844347	1.00[EUR][1000 genomes]
rs16854034	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs16854471	1.00[EUR][1000 genomes]
rs16855953	1.00[EUR][1000 genomes]
rs16856828	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2060556	1.00[EUR][1000 genomes]
rs2127558	1.00[EUR][1000 genomes]
rs2128270	0.88[LWK][hapmap];0.90[MKK][hapmap]
rs2244108	1.00[EUR][1000 genomes]
rs2244109	1.00[EUR][1000 genomes]
rs2244198	1.00[EUR][1000 genomes]
rs2245097	1.00[EUR][1000 genomes]
rs2254430	1.00[EUR][1000 genomes]
rs2449259	0.93[ASW][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap]
rs2449262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449267	0.92[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449268	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449275	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449277	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449278	0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449279	1.00[EUR][1000 genomes]
rs2449283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449292	0.93[ASW][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap]
rs2449294	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449302	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449305	1.00[EUR][1000 genomes]
rs2449306	1.00[EUR][1000 genomes]
rs2449309	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449311	0.93[ASW][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap]
rs2449312	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449313	0.86[ASW][hapmap];0.85[LWK][hapmap];0.97[MKK][hapmap]
rs2449314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449317	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449320	0.83[AFR][1000 genomes]
rs2449321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2449324	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456338	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456343	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456344	1.00[EUR][1000 genomes]
rs2456346	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456350	1.00[EUR][1000 genomes]
rs2456352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2456354	1.00[EUR][1000 genomes]
rs2489299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489305	1.00[EUR][1000 genomes]
rs2489307	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489309	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489315	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489317	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489318	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489319	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489321	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489323	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489324	0.88[LWK][hapmap];0.90[MKK][hapmap]
rs2489326	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489331	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489333	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489334	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489336	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489342	0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489345	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489347	0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489349	0.88[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489350	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489351	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489354	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489356	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489357	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489358	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2489359	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2489360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501061	0.93[ASW][hapmap];0.89[LWK][hapmap];0.97[MKK][hapmap]
rs2501064	0.93[ASW][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap];0.81[AFR][1000 genomes]
rs2501065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501066	0.93[ASW][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];0.81[AFR][1000 genomes]
rs2501067	0.88[AFR][1000 genomes]
rs2501069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501072	0.93[ASW][hapmap];0.90[LWK][hapmap];0.97[MKK][hapmap];0.85[AFR][1000 genomes]
rs2501073	0.84[AFR][1000 genomes]
rs2501074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501077	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501079	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501080	0.91[AMR][1000 genomes]
rs2501088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501103	1.00[EUR][1000 genomes]
rs2501104	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501112	1.00[EUR][1000 genomes]
rs2501113	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501117	0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501121	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501128	0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501130	0.90[LWK][hapmap];0.97[MKK][hapmap]
rs2501136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501137	0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501140	0.81[AFR][1000 genomes]
rs2501141	0.81[AFR][1000 genomes]
rs2501142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501148	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501152	0.85[ASW][hapmap];0.97[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2501156	0.81[AFR][1000 genomes]
rs2501157	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2516334	0.85[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2662910	1.00[EUR][1000 genomes]
rs2662911	1.00[EUR][1000 genomes]
rs2662913	1.00[EUR][1000 genomes]
rs2802546	1.00[EUR][1000 genomes]
rs2802547	1.00[EUR][1000 genomes]
rs2802567	1.00[EUR][1000 genomes]
rs2802736	1.00[EUR][1000 genomes]
rs28789844	1.00[EUR][1000 genomes]
rs28871966	1.00[EUR][1000 genomes]
rs2929627	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929629	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929632	0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3102105	1.00[EUR][1000 genomes]
rs3128647	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3991375	1.00[EUR][1000 genomes]
rs4121159	1.00[EUR][1000 genomes]
rs4256778	1.00[EUR][1000 genomes]
rs4275419	1.00[EUR][1000 genomes]
rs4475714	1.00[EUR][1000 genomes]
rs4639722	1.00[EUR][1000 genomes]
rs57535083	1.00[EUR][1000 genomes]
rs58205526	1.00[EUR][1000 genomes]
rs58355180	1.00[EUR][1000 genomes]
rs58651151	1.00[EUR][1000 genomes]
rs58823550	1.00[EUR][1000 genomes]
rs59730608	1.00[EUR][1000 genomes]
rs59730777	1.00[EUR][1000 genomes]
rs59839860	1.00[EUR][1000 genomes]
rs60428528	1.00[EUR][1000 genomes]
rs60434067	1.00[EUR][1000 genomes]
rs60727542	1.00[EUR][1000 genomes]
rs61269802	1.00[EUR][1000 genomes]
rs61329501	1.00[EUR][1000 genomes]
rs61483735	1.00[EUR][1000 genomes]
rs6426164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6656178	1.00[EUR][1000 genomes]
rs6666664	1.00[EUR][1000 genomes]
rs6670335	1.00[EUR][1000 genomes]
rs6673779	1.00[EUR][1000 genomes]
rs6680659	1.00[EUR][1000 genomes]
rs6683197	1.00[EUR][1000 genomes]
rs6689608	1.00[EUR][1000 genomes]
rs6693680	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6694400	1.00[EUR][1000 genomes]
rs6698293	1.00[EUR][1000 genomes]
rs6698942	1.00[EUR][1000 genomes]
rs73129804	1.00[EUR][1000 genomes]
rs7418261	1.00[EUR][1000 genomes]
rs7515136	1.00[EUR][1000 genomes]
rs7523371	1.00[EUR][1000 genomes]
rs7524227	1.00[EUR][1000 genomes]
rs7525497	1.00[EUR][1000 genomes]
rs7526764	1.00[EUR][1000 genomes]
rs7533311	1.00[EUR][1000 genomes]
rs7533415	1.00[EUR][1000 genomes]
rs7535962	1.00[EUR][1000 genomes]
rs7537947	1.00[EUR][1000 genomes]
rs7544960	1.00[EUR][1000 genomes]
rs7550589	1.00[EUR][1000 genomes]
rs7555397	1.00[EUR][1000 genomes]
rs769297	1.00[EUR][1000 genomes]
rs9286991	1.00[EUR][1000 genomes]
rs9426101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426104	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9426147	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426149	0.89[AFR][1000 genomes]
rs9426156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9426159	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9660934	1.00[EUR][1000 genomes]
rs9725252	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225116800-225117200	Flanking Active TSS	Liver	Liver
2	chr1:225116800-225118000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:225116800-225118200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:225116800-225118400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:225116800-225118400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:225116800-225118400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:225116800-225118400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:225116800-225118600	Active TSS	A549	lung
9	chr1:225116800-225118800	Active TSS	Hela-S3	cervix
10	chr1:225117000-225117200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:225117000-225117200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:225117000-225117200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:225117000-225117200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr1:225117000-225117200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:225117000-225117200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:225117000-225117200	Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr1:225117000-225117200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:225117000-225117200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr1:225117000-225117200	Active TSS	Fetal Muscle Trunk	muscle
20	chr1:225117000-225117200	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr1:225117000-225117200	Flanking Active TSS	Gastric	stomach
22	chr1:225117000-225117200	Active TSS	Lung	lung
23	chr1:225117000-225117200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:225117000-225117200	Active TSS	Right Atrium	heart
25	chr1:225117000-225117200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr1:225117000-225117200	Active TSS	Stomach Smooth Muscle	stomach
27	chr1:225117000-225117200	Enhancers	Spleen	Spleen
28	chr1:225117000-225117200	Bivalent Enhancer	Dnd41	blood
29	chr1:225117000-225117200	Flanking Active TSS	K562	blood
30	chr1:225117000-225117200	Flanking Active TSS	NH-A	brain
31	chr1:225117000-225117200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr1:225117000-225117200	Flanking Active TSS	Osteobl	bone
33	chr1:225117000-225117400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:225117000-225117400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:225117000-225117400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:225117000-225117400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:225117000-225117400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr1:225117000-225117400	Bivalent Enhancer	Fetal Brain Male	brain
39	chr1:225117000-225117400	Flanking Active TSS	Placenta	Placenta
40	chr1:225117000-225117400	Flanking Active TSS	Fetal Thymus	thymus
41	chr1:225117000-225117400	Flanking Active TSS	HMEC	breast
42	chr1:225117000-225117400	Flanking Active TSS	HUVEC	blood vessel
43	chr1:225117000-225117400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr1:225117000-225117600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:225117000-225117600	Active TSS	GM12878-XiMat	blood
46	chr1:225117000-225117800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:225117000-225117800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:225117000-225117800	Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:225117000-225117800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr1:225117000-225117800	Bivalent/Poised TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links