Variant report

Variant	rs12435338
Chromosome Location	chr14:64805752-64805753
allele	C/G
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	MAX	chr14:64804979-64806136	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr14:64805552-64805916	HepG2	liver:	n/a	n/a
3	CREB1	chr14:64804875-64806021	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:64805499-64806091	U87	brain:	n/a	n/a
5	NFYB	chr14:64805071-64805909	GM12878	blood:	n/a	chr14:64805451-64805465 chr14:64805453-64805463 chr14:64805450-64805465 chr14:64805452-64805465 chr14:64805452-64805467 chr14:64805450-64805465
6	MXI1	chr14:64804774-64805876	K562	blood:	n/a	n/a
7	ZBTB33	chr14:64805423-64806008	A549	lung:	n/a	n/a
8	POLR2A	chr14:64804507-64806157	MCF-7	breast:	n/a	n/a
9	CHD2	chr14:64804825-64805837	K562	blood:	n/a	n/a
10	POLR2A	chr14:64805445-64805908	HepG2	liver:	n/a	n/a
11	MYC	chr14:64805132-64805918	MCF10A-Er-Src	breast:	n/a	n/a
12	TBL1XR1	chr14:64805253-64805801	GM12878	blood:	n/a	n/a
13	POLR2A	chr14:64804593-64806105	GM15510	blood:	n/a	n/a
14	E2F4	chr14:64805026-64805986	Hela-S3	cervix:	n/a	chr14:64805727-64805736 chr14:64805454-64805463 chr14:64805555-64805564
15	RFX5	chr14:64805504-64805778	HepG2	liver:	n/a	n/a
16	USF2	chr14:64805409-64805925	GM12878	blood:	n/a	n/a
17	POLR2A	chr14:64804540-64806085	A549	lung:	n/a	n/a
18	ELF1	chr14:64805409-64805963	GM12878	blood:	n/a	chr14:64805677-64805690
19	MYBL2	chr14:64805393-64805819	HepG2	liver:	n/a	n/a
20	RFX5	chr14:64805445-64805917	GM12878	blood:	n/a	chr14:64805453-64805462
21	POLR2A	chr14:64805404-64806336	SK-N-SH	brain:	n/a	n/a
22	MTA3	chr14:64805530-64806193	GM12878	blood:	n/a	n/a
23	SRF	chr14:64805413-64806000	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr14:64804733-64806216	PFSK-1	brain:	n/a	n/a
25	CHD2	chr14:64804576-64806037	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr14:64804476-64806107	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr14:64804785-64806085	GM12878	blood:	n/a	n/a
28	NFYB	chr14:64805157-64805910	K562	blood:	n/a	chr14:64805451-64805465 chr14:64805453-64805463 chr14:64805450-64805465 chr14:64805452-64805465 chr14:64805452-64805467 chr14:64805450-64805465
29	RELA	chr14:64805454-64805989	GM19099	blood:	n/a	n/a
30	SIN3AK20	chr14:64805001-64805976	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr14:64805519-64806088	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr14:64804467-64806433	MCF-7	breast:	n/a	n/a
33	SP4	chr14:64805419-64805986	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:64804506-64806143	H1-neurons	neurons:	n/a	n/a
35	ZNF143	chr14:64804668-64806004	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:64804569-64806113	GM19193	blood:	n/a	n/a
37	CEBPD	chr14:64805212-64805984	HepG2	liver:	n/a	n/a
38	SIN3A	chr14:64804527-64806248	H1-hESC	embryonic stem cell:	n/a	n/a
39	REST	chr14:64805433-64806167	A549	lung:	n/a	n/a
40	NFYA	chr14:64805348-64806048	Hela-S3	cervix:	n/a	chr14:64805451-64805465 chr14:64805453-64805463 chr14:64805450-64805465 chr14:64805452-64805465 chr14:64805450-64805465
41	SP1	chr14:64805032-64806300	A549	lung:	n/a	chr14:64805928-64805940 chr14:64805443-64805464 chr14:64805929-64805938 chr14:64805930-64805939 chr14:64805928-64805940
42	SRF	chr14:64805144-64806177	MCF-7	breast:	n/a	n/a
43	ELF1	chr14:64805393-64805875	HepG2	liver:	n/a	chr14:64805677-64805690
44	TAF1	chr14:64805391-64806114	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr14:64804413-64806396	K562	blood:	n/a	n/a
46	SPI1	chr14:64805494-64805764	GM12878	blood:	n/a	chr14:64805677-64805690
47	POLR2A	chr14:64804557-64806207	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr14:64804630-64806030	MCF-7	breast:	n/a	n/a
49	SP1	chr14:64804921-64806333	A549	lung:	n/a	chr14:64805928-64805940 chr14:64805443-64805464 chr14:64805929-64805938 chr14:64805930-64805939 chr14:64805928-64805940
50	MYC	chr14:64805560-64805959	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64804489..64807619-chr14:64853862..64856673,3	MCF-7	breast:
2	chr14:64805319..64806175-chr5:67756123..67756690,2	MCF-7	breast:
3	chr14:64803480..64807605-chr14:64853546..64855883,4	K562	blood:
4	chr14:64805548..64807062-chr14:64875819..64878728,2	MCF-7	breast:
5	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
6	chr14:64805348..64805997-chr5:144640687..144641187,2	NB4	blood:
7	chr14:64805110..64805828-chr6:99395328..99395991,2	Hela-S3	cervix:
8	chr14:64373323..64375325-chr14:64805642..64807746,2	MCF-7	breast:
9	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
10	chr14:64805277..64807089-chr14:64853827..64855475,2	MCF-7	breast:
11	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
12	chr1:1003223..1005342-chr14:64805694..64807322,2	MCF-7	breast:
13	chr14:64805304..64806027-chr16:23568008..23568765,2	Hela-S3	cervix:
14	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
15	chr14:64805277..64807766-chr14:64933361..64935594,3	MCF-7	breast:
16	chr14:64804923..64805825-chr3:196295231..196296081,2	Hela-S3	cervix:
17	chr14:64805318..64805981-chr8:22102025..22102890,2	Hela-S3	cervix:
18	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
19	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
20	chr14:64805337..64807131-chr14:64855517..64857176,2	MCF-7	breast:
21	chr14:64805626..64806230-chr3:132136234..132136972,2	NB4	blood:

Variant related genes	Relation type
ESR2	TF binding region
ENSG00000214770	TF binding region
ENSG00000138246	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000103356	Chromatin interaction
ENSG00000100714	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000174013	Chromatin interaction
ENSG00000112234	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000208037	Chromatin interaction
ENSG00000103353	Chromatin interaction
ENSG00000259116	Chromatin interaction
ENSG00000168495	Chromatin interaction
ENSG00000185798	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10483774	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12100658	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12434085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434779	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435278	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12435307	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12435395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436020	0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12436302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12436325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12437063	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437103	1.00[AMR][1000 genomes]
rs1571512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17226046	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17226060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17226081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1952586	0.85[ASN][1000 genomes]
rs1956546	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28402888	0.92[ASN][1000 genomes]
rs28435160	0.92[ASN][1000 genomes]
rs28485225	0.93[ASN][1000 genomes]
rs28499370	0.91[ASN][1000 genomes]
rs28533821	0.92[ASN][1000 genomes]
rs28630894	0.89[ASN][1000 genomes]
rs34051517	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34422347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36108515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742614	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3783733	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3783734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3783735	0.95[ASN][1000 genomes]
rs3829768	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56735213	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58262369	0.91[AMR][1000 genomes]
rs59216189	0.95[ASN][1000 genomes]
rs59677654	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573551	0.84[ASN][1000 genomes]
rs67160339	0.92[ASN][1000 genomes]
rs8019025	0.92[ASN][1000 genomes]
rs9788441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64803200-64805800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr14:64803200-64806200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr14:64803400-64805800	Active TSS	GM12878-XiMat	blood
4	chr14:64803800-64805800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:64803800-64806000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:64803800-64806000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:64803800-64806200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:64803800-64806200	Active TSS	Brain Hippocampus Middle	brain
9	chr14:64803800-64806400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:64804000-64806200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:64804000-64806200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:64804000-64806200	Active TSS	Fetal Kidney	kidney
13	chr14:64804200-64805800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:64804200-64805800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:64804200-64805800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr14:64804200-64805800	Active TSS	HMEC	breast
17	chr14:64804200-64805800	Active TSS	NH-A	brain
18	chr14:64804200-64805800	Active TSS	NHDF-Ad	bronchial
19	chr14:64804200-64806000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:64804200-64806000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:64804200-64806000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:64804200-64806000	Active TSS	Duodenum Mucosa	Duodenum
23	chr14:64804200-64806000	Active TSS	Fetal Brain Male	brain
24	chr14:64804200-64806000	Active TSS	Fetal Stomach	stomach
25	chr14:64804200-64806000	Active TSS	NHLF	lung
26	chr14:64804200-64806200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:64804200-64806200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:64804200-64806200	Active TSS	K562	blood
29	chr14:64804400-64805800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:64804400-64805800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:64804400-64805800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:64804400-64805800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr14:64804400-64805800	Active TSS	Fetal Brain Female	brain
34	chr14:64804400-64805800	Active TSS	Fetal Intestine Large	intestine
35	chr14:64804400-64805800	Active TSS	Fetal Lung	lung
36	chr14:64804400-64805800	Active TSS	Placenta	Placenta
37	chr14:64804400-64805800	Active TSS	Thymus	Thymus
38	chr14:64804400-64805800	Active TSS	HepG2	liver
39	chr14:64804400-64806000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:64804400-64806000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr14:64804400-64806000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:64804400-64806000	Active TSS	Ovary	ovary
43	chr14:64804400-64806000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr14:64804400-64806000	Active TSS	Stomach Smooth Muscle	stomach
45	chr14:64804400-64806000	Active TSS	Hela-S3	cervix
46	chr14:64804400-64806000	Active TSS	HSMM	muscle
47	chr14:64804400-64806200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:64804400-64806200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:64804400-64806200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:64804400-64806200	Active TSS	Brain Anterior Caudate	brain

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