Variant report

Variant	rs62282451
Chromosome Location	chr3:133382841-133382842
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	chr3:133382720-133382870	SK-N-SH_RA	brain:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
2	CTCF	chr3:133382700-133382850	AG10803	skin:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
3	CTCF	chr3:133382700-133382850	GM12868	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
4	YY1	chr3:133382665-133382899	HCT-116	colon:	n/a	n/a
5	CTCF	chr3:133382524-133383022	MCF-7	breast:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
6	CTCF	chr3:133382700-133382850	GM12865	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
7	RFX5	chr3:133382633-133382911	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr3:133382625-133382934	MCF-7	breast:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
9	CTCF	chr3:133382700-133382850	HCPEpiC	choroid plexus:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
10	CTCF	chr3:133382700-133382850	HPF	lung:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
11	CTCF	chr3:133382700-133382850	HMF	breast:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
12	CTCF	chr3:133382720-133382870	GM12875	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
13	CTCF	chr3:133382720-133382870	HMF	breast:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
14	RAD21	chr3:133382489-133383185	HCT-116	colon:	n/a	n/a
15	RAD21	chr3:133382682-133382965	A549	lung:	n/a	n/a
16	CTCF	chr3:133382720-133382870	HBMEC	blood vessel:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
17	ZNF143	chr3:133382721-133382951	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr3:133382700-133382850	AG04450	lung:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
19	RAD21	chr3:133382551-133382916	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr3:133382650-133382897	LNCaP	prostate:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
21	SMC3	chr3:133382581-133382911	K562	blood:	n/a	chr3:133382776-133382790
22	CTCF	chr3:133382700-133382850	GM12869	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
23	RAD21	chr3:133382627-133382974	A549	lung:	n/a	n/a
24	CTCF	chr3:133382720-133382870	K562	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
25	CTCF	chr3:133382657-133382904	A549	lung:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
26	MXI1	chr3:133382436-133382942	GM12878	blood:	n/a	n/a
27	CTCF	chr3:133382740-133382890	HUVEC	blood vessel:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
28	CTCF	chr3:133382740-133382890	GM12868	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
29	RAD21	chr3:133382614-133382959	IMR90	lung:	n/a	n/a
30	RAD21	chr3:133382501-133383078	MCF-7	breast:	n/a	n/a
31	SMC3	chr3:133382588-133382955	Hela-S3	cervix:	n/a	chr3:133382776-133382790
32	RAD21	chr3:133382609-133382974	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr3:133382662-133382953	A549	lung:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
34	ZNF143	chr3:133382639-133382941	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr3:133382532-133382893	HepG2	liver:	n/a	n/a
36	CTCF	chr3:133382700-133382850	AG09319	gingival:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
37	CTCF	chr3:133382536-133382942	MCF-7	breast:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
38	RAD21	chr3:133382345-133383205	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr3:133382647-133382857	K562	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
40	CTCF	chr3:133382683-133382863	Pancreas_OC	pancreas:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
41	MYC	chr3:133382401-133382897	K562	blood:	n/a	chr3:133382572-133382583 chr3:133382572-133382582 chr3:133382573-133382582 chr3:133382572-133382583
42	CTCF	chr3:133382700-133382850	MCF-7	breast:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
43	CTCF	chr3:133382290-133383195	SK-N-SH	brain:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
44	CTCF	chr3:133382720-133382870	HFF-Myc	foreskin:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
45	YY1	chr3:133382588-133382950	GM12878	blood:	n/a	n/a
46	BHLHE40	chr3:133382465-133382903	HepG2	liver:	n/a	chr3:133382573-133382582 chr3:133382573-133382582 chr3:133382572-133382581
47	CTCF	chr3:133382652-133382926	HUVEC	blood vessel:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791
48	SMC3	chr3:133382512-133382990	GM12878	blood:	n/a	chr3:133382776-133382790
49	RAD21	chr3:133382605-133382927	K562	blood:	n/a	n/a
50	CTCF	chr3:133382700-133382850	GM12867	blood:	n/a	chr3:133382774-133382792 chr3:133382776-133382797 chr3:133382777-133382786 chr3:133382775-133382791

No.	Distal block	Cell Line	Cell type
1	chr3:133381600..133383745-chr3:133425262..133426763,2	K562	blood:
2	chr3:133382217..133383345-chr3:133540501..133541362,8	MCF-7	breast:
3	chr3:133382370..133383207-chr3:133551034..133551969,3	MCF-7	breast:
4	chr3:133382180..133383177-chr3:133537390..133538324,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-678P	TF binding region
TOPBP1	TF binding region

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10512903	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512904	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512908	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706413	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706586	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706809	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707750	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708197	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709132	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709349	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709404	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11709940	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710111	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710717	1.00[ASN][1000 genomes]
rs11711706	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11712186	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11712672	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713205	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713248	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714392	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714422	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715407	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715435	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715615	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716197	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716388	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716415	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717424	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717902	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718050	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718234	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718255	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719366	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719585	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720825	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16840595	0.81[EUR][1000 genomes]
rs17301253	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301521	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301766	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17301889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17373504	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17373726	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718801	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28846461	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55729127	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55741097	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56040719	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56292037	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56323915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282385	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62282388	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282389	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282390	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282392	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282415	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282417	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282418	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282419	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282420	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282421	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282427	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282428	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282429	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62282456	0.84[EUR][1000 genomes]
rs7349558	0.89[EUR][1000 genomes]
rs7630957	0.82[EUR][1000 genomes]
rs7650725	0.84[EUR][1000 genomes]
rs7653808	0.84[EUR][1000 genomes]

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133381400-133383000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr3:133381400-133383000	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr3:133381400-133392400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:133381600-133383000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:133381600-133383000	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:133381600-133383000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:133381600-133383000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr3:133381600-133383000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:133381600-133383000	Enhancers	Fetal Intestine Small	intestine
10	chr3:133381600-133383000	Enhancers	Fetal Kidney	kidney
11	chr3:133381600-133383000	Enhancers	Thymus	Thymus
12	chr3:133381600-133383200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:133381600-133383200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:133381600-133383200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:133381600-133383200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr3:133381600-133383200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr3:133381600-133383200	Enhancers	Brain Hippocampus Middle	brain
18	chr3:133381600-133383600	Enhancers	Liver	Liver
19	chr3:133381600-133386200	Weak transcription	Fetal Stomach	stomach
20	chr3:133381600-133387200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:133381600-133387200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:133381600-133387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:133381600-133387400	Weak transcription	Fetal Heart	heart
24	chr3:133381600-133388800	Weak transcription	Gastric	stomach
25	chr3:133382000-133383000	Enhancers	Stomach Mucosa	stomach
26	chr3:133382000-133387600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:133382000-133387600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:133382200-133383000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr3:133382200-133383000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:133382200-133383000	Enhancers	Brain Anterior Caudate	brain
31	chr3:133382200-133383000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr3:133382600-133383000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:133382600-133383000	Enhancers	Ovary	ovary
34	chr3:133382600-133383000	Enhancers	A549	lung
35	chr3:133382600-133387600	Weak transcription	NH-A	brain
36	chr3:133382800-133383000	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:133382800-133383000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:133382800-133383000	Genic enhancers	K562	blood
39	chr3:133382800-133383200	Enhancers	Dnd41	blood
40	chr3:133382800-133384400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr3:133382800-133384800	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:133382800-133385600	Weak transcription	Primary T cells from cord blood	blood
43	chr3:133382800-133386200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr3:133382800-133386400	Weak transcription	Fetal Thymus	thymus
45	chr3:133382800-133386600	Weak transcription	Pancreas	Pancrea
46	chr3:133382800-133387200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:133382800-133387200	Weak transcription	Placenta	Placenta
48	chr3:133382800-133387200	Weak transcription	Right Atrium	heart
49	chr3:133382800-133387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:133382800-133387400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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