Variant report

Variant	rs11714774
Chromosome Location	chr3:121265522-121265523
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	CEBPB	chr3:121264767-121265991	A549	lung:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
2	RAD21	chr3:121265429-121265970	ECC-1	luminal epithelium:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
3	CTCF	chr3:121264809-121265939	GM12878	blood:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
4	SIX5	chr3:121264551-121266074	A549	lung:	n/a	n/a
5	MXI1	chr3:121263658-121266103	IMR90	lung:	n/a	n/a
6	MAFK	chr3:121264673-121265901	K562	blood:	n/a	n/a
7	TBP	chr3:121264658-121265786	Hela-S3	cervix:	n/a	n/a
8	ARID3A	chr3:121265453-121265941	HepG2	liver:	n/a	n/a
9	KAP1	chr3:121264240-121265888	HEK293	kidney:	n/a	n/a
10	CTCF	chr3:121265490-121265895	A549	lung:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
11	CTCF	chr3:121265420-121265570	HAc	cerebellar:	n/a	n/a
12	FOXA1	chr3:121265520-121265947	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:121264378-121265762	GM18951	blood:	n/a	n/a
14	CEBPB	chr3:121265352-121265933	HepG2	liver:	n/a	chr3:121265493-121265506 chr3:121265495-121265506
15	REST	chr3:121264530-121265672	H1-neurons	neurons:	n/a	n/a
16	RAD21	chr3:121264782-121265968	IMR90	lung:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
17	TEAD4	chr3:121265460-121265966	HepG2	liver:	n/a	n/a
18	CEBPB	chr3:121264621-121266051	GM12878	blood:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
19	FOS	chr3:121265471-121265791	MCF10A-Er-Src	breast:	n/a	chr3:121265650-121265659
20	POLR2A	chr3:121263970-121265594	K562	blood:	n/a	n/a
21	SIN3AK20	chr3:121263953-121265775	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:121265380-121265530	HVMF	connective:	n/a	n/a
23	CEBPB	chr3:121264666-121266054	MCF-7	breast:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
24	ZNF143	chr3:121264634-121265874	GM12878	blood:	n/a	n/a
25	E2F4	chr3:121263140-121265579	MCF10A-Er-Src	breast:	n/a	chr3:121264194-121264209 chr3:121264812-121264823
26	CEBPB	chr3:121265292-121265994	K562	blood:	n/a	chr3:121265493-121265506 chr3:121265495-121265506
27	HCFC1	chr3:121264036-121266047	Hela-S3	cervix:	n/a	n/a
28	RAD21	chr3:121265470-121265887	GM12878	blood:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
29	FOXA1	chr3:121265519-121265904	T-47D	breast:	n/a	n/a
30	FOS	chr3:121265484-121265588	MCF10A-Er-Src	breast:	n/a	n/a
31	GTF2F1	chr3:121264677-121265941	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr3:121264238-121265938	A549	lung:	n/a	chr3:121264842-121264851
33	CEBPB	chr3:121264724-121265949	HepG2	liver:	n/a	chr3:121265493-121265506 chr3:121265176-121265189 chr3:121265495-121265506
34	CTCF	chr3:121265500-121265650	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr3:121265521-121265984	MCF-7	breast:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
36	RAD21	chr3:121264604-121266123	SK-N-SH	brain:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
37	RAD21	chr3:121265441-121265946	HepG2	liver:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
38	CTCF	chr3:121265280-121265570	GM12873	blood:	n/a	n/a
39	CTCF	chr3:121265269-121266020	HCT-116	colon:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
40	MAX	chr3:121264156-121265942	NB4	blood:	n/a	chr3:121264347-121264355 chr3:121264534-121264544
41	RAD21	chr3:121265404-121265989	HCT-116	colon:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
42	CTCF	chr3:121265438-121265979	MCF-7	breast:	n/a	chr3:121265701-121265719 chr3:121265703-121265724 chr3:121265702-121265718
43	RAD21	chr3:121265361-121265946	GM12878	blood:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
44	RAD21	chr3:121265469-121265982	MCF-7	breast:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
45	MTA3	chr3:121264793-121265674	GM12878	blood:	n/a	n/a
46	IRF1	chr3:121264677-121265827	K562	blood:	n/a	n/a
47	ZNF384	chr3:121265508-121265919	GM12878	blood:	n/a	n/a
48	RAD21	chr3:121265472-121265938	SK-N-SH_RA	brain:	n/a	chr3:121265702-121265721 chr3:121265706-121265715
49	PML	chr3:121264311-121266009	GM12878	blood:	n/a	n/a
50	CEBPB	chr3:121265317-121265984	HCT-116	colon:	n/a	chr3:121265493-121265506 chr3:121265495-121265506

No.	Distal block	Cell Line	Cell type
1	chr3:121263260..121265570-chr3:121468289..121470216,2	K562	blood:
2	chr3:121264864..121267091-chr3:122101354..122103102,2	MCF-7	breast:
3	chr3:121263813..121266298-chr3:122398939..122401596,2	K562	blood:
4	chr3:121265150..121267222-chr3:121267374..121269393,2	K562	blood:
5	chr3:121264298..121266034-chr3:122100794..122102974,2	MCF-7	breast:
6	chr3:121265303..121265930-chr3:121811130..121811872,2	MCF-7	breast:
7	chr3:121264839..121267237-chr3:122281910..122284575,2	MCF-7	breast:

Variant related genes	Relation type
POLQ	TF binding region
ENSG00000160124	Chromatin interaction
ENSG00000173230	Chromatin interaction
ENSG00000114023	Chromatin interaction
ENSG00000173193	Chromatin interaction
ENSG00000163840	Chromatin interaction
ENSG00000138496	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10451895	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10934551	0.86[ASN][1000 genomes]
rs11705939	0.88[AFR][1000 genomes]
rs11706583	0.96[ASN][1000 genomes]
rs11709378	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11711667	0.89[ASN][1000 genomes]
rs11714746	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11715085	0.83[EUR][1000 genomes]
rs11718918	0.89[ASN][1000 genomes]
rs12488196	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12496163	0.86[ASN][1000 genomes]
rs12632308	0.89[ASN][1000 genomes]
rs12634017	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12635218	0.89[ASN][1000 genomes]
rs13059229	0.96[ASN][1000 genomes]
rs13077237	0.90[ASN][1000 genomes]
rs13077305	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13080007	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13082118	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13085365	0.96[ASN][1000 genomes]
rs13095550	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13097659	0.89[ASN][1000 genomes]
rs13100579	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1381057	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1381059	0.89[ASN][1000 genomes]
rs1877968	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1877969	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2169301	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2331962	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs28406368	0.89[ASN][1000 genomes]
rs3218649	0.89[ASN][1000 genomes]
rs3732406	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3772122	0.89[ASN][1000 genomes]
rs3772124	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3806614	0.98[ASN][1000 genomes]
rs3845860	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3845863	0.91[ASN][1000 genomes]
rs3911713	0.89[ASN][1000 genomes]
rs4555467	0.89[ASN][1000 genomes]
rs4676677	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4676680	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4676728	0.95[ASN][1000 genomes]
rs488636	0.98[ASN][1000 genomes]
rs500100	0.91[ASN][1000 genomes]
rs500103	0.91[ASN][1000 genomes]
rs502643	0.98[ASN][1000 genomes]
rs524026	0.84[ASN][1000 genomes]
rs541818	0.81[ASN][1000 genomes]
rs575913	0.91[ASN][1000 genomes]
rs587553	1.00[ASN][1000 genomes]
rs61796946	0.86[ASN][1000 genomes]
rs6438630	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66922316	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6778684	0.89[ASN][1000 genomes]
rs6784324	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6793252	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6797682	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs693403	0.91[ASN][1000 genomes]
rs702019	0.98[ASN][1000 genomes]
rs7612018	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7615529	0.86[ASN][1000 genomes]
rs7617748	0.96[ASN][1000 genomes]
rs7622867	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7622881	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7622897	0.89[ASN][1000 genomes]
rs7628081	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7633930	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7645027	0.88[AFR][1000 genomes]
rs7645050	0.94[AFR][1000 genomes];0.96[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	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3445327	chr3:121260311-121288302	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	esv2757006	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv2759172	chr3:121264886-121323465	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121263000-121265600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:121263200-121265800	Active TSS	NHLF	lung
3	chr3:121263400-121265800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:121263400-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:121263400-121265800	Active TSS	K562	blood
6	chr3:121263600-121265800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr3:121263600-121265800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr3:121263600-121265800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:121263600-121265800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:121263600-121265800	Active TSS	Brain Germinal Matrix	brain
11	chr3:121263600-121265800	Active TSS	NH-A	brain
12	chr3:121263800-121265600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr3:121263800-121265600	Active TSS	HSMM	muscle
14	chr3:121263800-121265800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:121263800-121265800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr3:121263800-121265800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:121263800-121265800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:121263800-121265800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr3:121263800-121265800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:121263800-121265800	Active TSS	Fetal Brain Female	brain
21	chr3:121263800-121265800	Active TSS	Fetal Intestine Small	intestine
22	chr3:121263800-121265800	Active TSS	Hela-S3	cervix
23	chr3:121263800-121265800	Active TSS	NHDF-Ad	bronchial
24	chr3:121263800-121266000	Active TSS	Fetal Kidney	kidney
25	chr3:121263800-121266000	Active TSS	A549	lung
26	chr3:121264000-121265600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:121264000-121265600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:121264000-121265600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:121264000-121265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:121264000-121265800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:121264000-121265800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr3:121264000-121265800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr3:121264000-121265800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:121264000-121265800	Active TSS	Fetal Intestine Large	intestine
35	chr3:121264000-121265800	Active TSS	Thymus	Thymus
36	chr3:121264000-121265800	Active TSS	HSMMtube	muscle
37	chr3:121264200-121265600	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr3:121264200-121265600	Bivalent/Poised TSS	HepG2	liver
39	chr3:121264200-121265800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:121264200-121265800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:121264200-121265800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr3:121264200-121265800	Active TSS	Brain Substantia Nigra	brain
43	chr3:121264200-121265800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr3:121264200-121265800	Active TSS	Psoas Muscle	Psoas
45	chr3:121264200-121266000	Flanking Active TSS	Liver	Liver
46	chr3:121264400-121265600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:121264400-121265600	Active TSS	Aorta	Aorta
48	chr3:121264400-121265600	Active TSS	Small Intestine	intestine
49	chr3:121264400-121265600	Active TSS	Stomach Mucosa	stomach
50	chr3:121264400-121265800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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