Variant report

Variant	rs12884929
Chromosome Location	chr14:71788946-71788947
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	TCF7L2	chr14:71788721-71789124	MCF-7	breast:	n/a	chr14:71788900-71788914 chr14:71788900-71788914 chr14:71788903-71788912
2	POLR2A	chr14:71786722-71788947	Hela-S3	cervix:	n/a	n/a
3	MYC	chr14:71788559-71789148	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF12	chr14:71788670-71789102	ECC-1	luminal epithelium:	n/a	n/a
5	JUN	chr14:71788599-71789029	H1-hESC	embryonic stem cell:	n/a	chr14:71788916-71788927
6	PML	chr14:71786510-71789130	GM12878	blood:	n/a	chr14:71787820-71787828 chr14:71786649-71786657
7	POLR2A	chr14:71786553-71788996	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:71786698-71789008	GM12878	blood:	n/a	n/a
9	NFIC	chr14:71788265-71789219	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:71786730-71788992	GM18526	blood:	n/a	n/a
11	POLR2A	chr14:71786467-71789037	GM12891	blood:	n/a	n/a
12	SIN3AK20	chr14:71788846-71789108	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr14:71786032-71789994	SK-N-SH	brain:	n/a	chr14:71786940-71786955 chr14:71786938-71786953
14	TCF12	chr14:71788296-71789289	ECC-1	luminal epithelium:	n/a	n/a
15	STAT3	chr14:71788564-71789030	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr14:71786551-71789055	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:71786906-71789123	GM12892	blood:	n/a	n/a
18	CEBPB	chr14:71788542-71789085	MCF-7	breast:	n/a	n/a
19	PBX3	chr14:71788135-71789182	SK-N-SH	brain:	n/a	chr14:71788683-71788694
20	CEBPB	chr14:71788734-71789026	HepG2	liver:	n/a	n/a
21	MAZ	chr14:71786749-71789127	IMR90	lung:	n/a	chr14:71787309-71787319
22	JUND	chr14:71788785-71789080	H1-hESC	embryonic stem cell:	n/a	chr14:71788918-71788929 chr14:71788916-71788927
23	MYC	chr14:71786712-71788962	K562	blood:	n/a	chr14:71787309-71787319
24	POLR2A	chr14:71788421-71789071	HCT-116	colon:	n/a	n/a
25	POLR2A	chr14:71788378-71789002	Hela-S3	cervix:	n/a	n/a
26	PRDM1	chr14:71788559-71789749	Hela-S3	cervix:	n/a	chr14:71788977-71788992
27	POLR2A	chr14:71786720-71788974	GM18505	blood:	n/a	n/a
28	RAD21	chr14:71786367-71789133	IMR90	lung:	n/a	chr14:71787953-71787963 chr14:71787922-71787932 chr14:71787005-71787018 chr14:71787277-71787290 chr14:71787747-71787761
29	CEBPB	chr14:71788644-71789094	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr14:71787873-71789259	ECC-1	luminal epithelium:	n/a	n/a
31	E2F4	chr14:71788439-71789018	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF7L2	chr14:71788690-71789083	HCT-116	colon:	n/a	chr14:71788900-71788914 chr14:71788900-71788914 chr14:71788903-71788912
33	SP1	chr14:71788613-71789030	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr14:71788115-71788961	H1-hESC	embryonic stem cell:	n/a	n/a
35	GTF2F1	chr14:71788256-71789045	Hela-S3	cervix:	n/a	n/a
36	SMC3	chr14:71787824-71789963	GM12878	blood:	n/a	n/a
37	RAD21	chr14:71788646-71789853	HCT-116	colon:	n/a	chr14:71789547-71789566
38	EP300	chr14:71788496-71789140	Hela-S3	cervix:	n/a	n/a
39	FOS	chr14:71788627-71789142	MCF10A-Er-Src	breast:	n/a	chr14:71788916-71788927
40	POLR2A	chr14:71786672-71789921	IMR90	lung:	n/a	n/a
41	POLR2A	chr14:71786605-71789123	GM12892	blood:	n/a	n/a
42	MXI1	chr14:71787702-71789071	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr14:71786546-71788958	MCF-7	breast:	n/a	n/a
44	CHD1	chr14:71787736-71789103	H1-hESC	embryonic stem cell:	n/a	chr14:71787925-71787935
45	POLR2A	chr14:71788701-71788981	GM12892	blood:	n/a	n/a
46	CTCF	chr14:71788914-71790060	SK-N-SH	brain:	n/a	chr14:71789548-71789569
47	TCF7L2	chr14:71788319-71789057	HEK293	kidney:	n/a	chr14:71788900-71788914 chr14:71788900-71788914 chr14:71788903-71788912
48	MXI1	chr14:71787707-71789092	GM12878	blood:	n/a	n/a
49	RAD21	chr14:71786162-71790206	SK-N-SH	brain:	n/a	chr14:71789547-71789566 chr14:71787953-71787963 chr14:71787922-71787932 chr14:71787005-71787018 chr14:71787277-71787290 chr14:71787747-71787761
50	TEAD4	chr14:71788374-71789145	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71787272..71789927-chr14:72149469..72152199,2	MCF-7	breast:
2	chr14:71608562..71610263-chr14:71786915..71789760,2	MCF-7	breast:
3	chr14:71776798..71778756-chr14:71785140..71789113,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	TF binding region
ENSG00000197555	Chromatin interaction
ENSG00000269927	Chromatin interaction
ENSG00000259146	Chromatin interaction

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs11620632	0.80[ASN][1000 genomes]
rs11627918	0.80[ASN][1000 genomes]
rs11845249	0.80[ASN][1000 genomes]
rs11849508	0.80[ASN][1000 genomes]
rs12127	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12878989	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12879243	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12880291	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12880611	0.85[EUR][1000 genomes]
rs12881643	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12881957	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12887261	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12889866	0.85[EUR][1000 genomes]
rs12891975	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894016	0.84[EUR][1000 genomes]
rs12894478	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12896900	0.83[EUR][1000 genomes]
rs12896986	0.85[EUR][1000 genomes]
rs14030	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17178045	0.85[EUR][1000 genomes]
rs17178206	0.85[EUR][1000 genomes]
rs17178234	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17178387	0.83[EUR][1000 genomes]
rs17767386	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17767392	0.85[EUR][1000 genomes]
rs17767398	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17767410	0.86[EUR][1000 genomes]
rs17767446	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17767499	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17767523	0.85[EUR][1000 genomes]
rs17767553	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1990241	0.86[EUR][1000 genomes]
rs2108049	0.85[EUR][1000 genomes]
rs2108707	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2109276	0.85[EUR][1000 genomes]
rs2286409	0.80[AFR][1000 genomes]
rs2877729	0.84[EUR][1000 genomes]
rs33994051	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34011442	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34057981	0.84[EUR][1000 genomes]
rs34061264	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34176710	0.83[EUR][1000 genomes]
rs34281405	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34281934	0.86[EUR][1000 genomes]
rs34320622	0.85[EUR][1000 genomes]
rs34347034	0.84[EUR][1000 genomes]
rs34388001	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34454371	0.84[EUR][1000 genomes]
rs34469007	0.85[EUR][1000 genomes]
rs34524083	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34528013	0.85[EUR][1000 genomes]
rs34528131	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34533948	0.88[EUR][1000 genomes]
rs34649709	0.87[EUR][1000 genomes]
rs34674149	0.86[EUR][1000 genomes]
rs34725136	0.88[EUR][1000 genomes]
rs34746156	0.87[EUR][1000 genomes]
rs34748537	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34767050	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34873919	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34911660	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34957192	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34991781	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34993988	0.87[EUR][1000 genomes]
rs35051046	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35054229	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35094946	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35122644	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35151594	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35260692	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35468256	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35589413	0.82[EUR][1000 genomes]
rs35609708	0.83[EUR][1000 genomes]
rs35613269	0.85[EUR][1000 genomes]
rs35620527	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35621718	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35625243	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35680546	0.83[EUR][1000 genomes]
rs35692397	0.85[EUR][1000 genomes]
rs35796129	0.88[EUR][1000 genomes]
rs35822724	0.89[EUR][1000 genomes]
rs35831373	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35854505	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35866366	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36052007	0.83[EUR][1000 genomes]
rs36057816	0.85[EUR][1000 genomes]
rs36093218	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4453405	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899394	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902928	0.84[ASN][1000 genomes]
rs56180634	0.80[EUR][1000 genomes]
rs56363446	0.85[EUR][1000 genomes]
rs56407721	0.87[EUR][1000 genomes]
rs59697713	0.80[ASN][1000 genomes]
rs61989245	0.80[ASN][1000 genomes]
rs61989246	0.80[ASN][1000 genomes]
rs61989247	0.80[ASN][1000 genomes]
rs61989250	0.80[ASN][1000 genomes]
rs61989257	0.80[ASN][1000 genomes]
rs61989367	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61989373	0.85[EUR][1000 genomes]
rs61989374	0.85[EUR][1000 genomes]
rs61989377	0.84[EUR][1000 genomes]
rs61989379	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61989382	0.83[EUR][1000 genomes]
rs61989386	0.83[EUR][1000 genomes]
rs61991192	0.84[ASN][1000 genomes]
rs61991199	0.87[EUR][1000 genomes]
rs61991200	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61991201	0.87[EUR][1000 genomes]
rs61991202	0.88[EUR][1000 genomes]
rs61991203	0.85[EUR][1000 genomes]
rs61991204	0.85[EUR][1000 genomes]
rs61991205	0.86[EUR][1000 genomes]
rs61991213	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61991243	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61991246	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61991247	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991248	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61991249	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61991250	0.87[EUR][1000 genomes]
rs61991254	0.81[EUR][1000 genomes]
rs61991255	0.85[EUR][1000 genomes]
rs66645707	0.83[EUR][1000 genomes]
rs67489015	0.87[EUR][1000 genomes]
rs68073803	0.88[EUR][1000 genomes]
rs7140354	0.85[EUR][1000 genomes]
rs7142180	0.85[EUR][1000 genomes]
rs7142214	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7145755	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7147434	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7147668	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7152842	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7156460	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7160460	0.80[ASN][1000 genomes]
rs722633	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs723966	0.85[EUR][1000 genomes]
rs725673	0.85[EUR][1000 genomes]
rs72726701	0.80[ASN][1000 genomes]
rs72726702	0.82[ASN][1000 genomes]
rs72728403	0.84[ASN][1000 genomes]
rs72728427	0.89[EUR][1000 genomes]
rs8007068	0.89[EUR][1000 genomes]
rs8013161	0.80[EUR][1000 genomes]
rs8015644	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8019721	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv3405849	chr14:71786224-71789072	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr14:71786000-71789200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr14:71786200-71789000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:71786200-71789200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr14:71786200-71789200	Active TSS	Stomach Smooth Muscle	stomach
5	chr14:71786200-71789600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:71786200-71790000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:71786400-71789000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:71786400-71789000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr14:71786400-71789000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:71786400-71789000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:71786400-71789000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:71786400-71789000	Active TSS	Colonic Mucosa	Colon
13	chr14:71786400-71789000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:71786400-71789000	Active TSS	Right Atrium	heart
15	chr14:71786400-71789200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:71786400-71789400	Active TSS	Brain Angular Gyrus	brain
17	chr14:71786400-71789600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr14:71786400-71789800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:71786400-71789800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:71786400-71790000	Active TSS	Brain Hippocampus Middle	brain
21	chr14:71786400-71790000	Active TSS	HSMM	muscle
22	chr14:71786400-71790000	Active TSS	HSMMtube	muscle
23	chr14:71786400-71790200	Active TSS	Stomach Mucosa	stomach
24	chr14:71786600-71789000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:71786600-71789000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr14:71786600-71789000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:71786600-71789000	Active TSS	Esophagus	oesophagus
28	chr14:71786600-71789000	Active TSS	Left Ventricle	heart
29	chr14:71786600-71789000	Active TSS	Ovary	ovary
30	chr14:71786600-71789000	Active TSS	Osteobl	bone
31	chr14:71786600-71789200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:71786600-71789200	Active TSS	Aorta	Aorta
33	chr14:71786600-71789200	Active TSS	Colon Smooth Muscle	Colon
34	chr14:71786600-71789200	Active TSS	Fetal Intestine Small	intestine
35	chr14:71786600-71789400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr14:71786600-71789600	Active TSS	NHDF-Ad	bronchial
37	chr14:71786600-71789800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:71786600-71790000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:71786600-71790000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:71786800-71789000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:71786800-71789000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:71786800-71789000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:71786800-71789000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:71786800-71789000	Active TSS	Duodenum Mucosa	Duodenum
45	chr14:71786800-71789000	Active TSS	Hela-S3	cervix
46	chr14:71786800-71789200	Active TSS	NHEK	skin
47	chr14:71786800-71789400	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:71786800-71789400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:71786800-71789400	Active TSS	Fetal Intestine Large	intestine
50	chr14:71786800-71789400	Active TSS	Fetal Kidney	kidney

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