Variant report

Variant	rs1256120
Chromosome Location	chr14:64805001-64805002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:255)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:255 , 50 per page) page: 1 2 3 4 5 6

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	CREB1	chr14:64804875-64806021	GM12878	blood:	n/a	n/a
3	MXI1	chr14:64804774-64805876	K562	blood:	n/a	n/a
4	YY1	chr14:64804527-64805339	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:64804507-64806157	MCF-7	breast:	n/a	n/a
6	POU2F2	chr14:64804580-64805370	GM12891	blood:	n/a	n/a
7	CHD2	chr14:64804825-64805837	K562	blood:	n/a	n/a
8	PAX5	chr14:64804901-64805346	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:64804593-64806105	GM15510	blood:	n/a	n/a
10	POLR2A	chr14:64804540-64806085	A549	lung:	n/a	n/a
11	SP4	chr14:64804928-64805250	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:64804733-64806216	PFSK-1	brain:	n/a	n/a
13	CHD2	chr14:64804576-64806037	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr14:64804476-64806107	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr14:64804785-64806085	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:64804859-64805374	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr14:64804871-64805290	PBDE	blood:	n/a	n/a
18	SIN3AK20	chr14:64805001-64805976	SK-N-SH	brain:	n/a	n/a
19	REST	chr14:64804603-64805330	A549	lung:	n/a	n/a
20	ZKSCAN1	chr14:64804591-64805254	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:64804467-64806433	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:64804506-64806143	H1-neurons	neurons:	n/a	n/a
23	ZNF143	chr14:64804668-64806004	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:64804569-64806113	GM19193	blood:	n/a	n/a
25	POLR2A	chr14:64804476-64805362	GM12891	blood:	n/a	n/a
26	SIN3A	chr14:64804527-64806248	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:64804461-64805351	GM12891	blood:	n/a	n/a
28	CTCF	chr14:64804880-64805030	HFF	foreskin:	n/a	n/a
29	POLR2A	chr14:64804413-64806396	K562	blood:	n/a	n/a
30	POLR2A	chr14:64804557-64806207	MCF10A-Er-Src	breast:	n/a	n/a
31	TAF1	chr14:64804867-64805370	GM12878	blood:	n/a	n/a
32	MYC	chr14:64804630-64806030	MCF-7	breast:	n/a	n/a
33	SP1	chr14:64804921-64806333	A549	lung:	n/a	chr14:64805928-64805940 chr14:64805443-64805464 chr14:64805929-64805938 chr14:64805930-64805939 chr14:64805928-64805940
34	MAX	chr14:64804512-64806168	ECC-1	luminal epithelium:	n/a	n/a
35	MTA3	chr14:64804505-64805117	GM12878	blood:	n/a	n/a
36	POLR2A	chr14:64804575-64806301	HCT-116	colon:	n/a	n/a
37	JUND	chr14:64804608-64806039	K562	blood:	n/a	chr14:64805452-64805461
38	BACH1	chr14:64804717-64805946	H1-hESC	embryonic stem cell:	n/a	n/a
39	HA-E2F1	chr14:64804512-64806079	MCF-7	breast:	n/a	chr14:64805727-64805736 chr14:64805454-64805463 chr14:64805555-64805564 chr14:64805215-64805226
40	POLR2A	chr14:64804439-64806161	GM12892	blood:	n/a	n/a
41	SMARCB1	chr14:64804595-64805357	Hela-S3	cervix:	n/a	n/a
42	MYC	chr14:64804588-64806183	A549	lung:	n/a	n/a
43	PML	chr14:64804900-64805210	K562	blood:	n/a	n/a
44	YY1	chr14:64804904-64805346	HepG2	liver:	n/a	n/a
45	RCOR1	chr14:64804570-64806100	K562	blood:	n/a	n/a
46	MAX	chr14:64804490-64806228	ECC-1	luminal epithelium:	n/a	n/a
47	RUNX3	chr14:64804670-64806265	GM12878	blood:	n/a	n/a
48	MAX	chr14:64804457-64806295	HCT-116	colon:	n/a	n/a
49	POLR2A	chr14:64804930-64806173	HUVEC	blood vessel:	n/a	n/a
50	ATF2	chr14:64804733-64805310	GM12878	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64804489..64807619-chr14:64853862..64856673,3	MCF-7	breast:
2	chr14:64803480..64807605-chr14:64853546..64855883,4	K562	blood:
3	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
4	chr14:64804835..64805387-chr3:49058377..49059191,2	Hela-S3	cervix:
5	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
6	chr14:64803941..64806112-chr14:65005957..65008329,2	MCF-7	breast:
7	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
8	chr14:64804845..64805497-chr5:37249133..37249826,2	Hela-S3	cervix:
9	chr14:64804904..64805588-chr17:25621013..25621566,2	Hela-S3	cervix:
10	chr12:31477220..31477749-chr14:64805000..64805691,2	Hela-S3	cervix:
11	chr14:64804526..64805201-chrX:153626577..153627149,2	Hela-S3	cervix:
12	chr14:64804923..64805825-chr3:196295231..196296081,2	Hela-S3	cervix:
13	chr14:64804867..64805506-chr4:73935128..73935666,2	HCT-116	colon:
14	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
15	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
16	chr14:64760837..64762667-chr14:64803979..64805522,2	MCF-7	breast:
17	chr14:64804701..64805229-chr14:64854266..64854945,2	Hela-S3	cervix:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESR2-1	chr14:64804616-64805317	ENSG00000214770.2

No data

Variant related genes	Relation type
ESR2	TF binding region
ENSG00000214770	TF binding region
ENSG00000100714	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000263583	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000109046	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000140009	Chromatin interaction
ENSG00000197603	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000174013	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000185798	Chromatin interaction
ENSG00000259116	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10137185	0.87[CEU][hapmap]
rs1152580	0.90[JPT][hapmap]
rs1256066	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1256114	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1256115	0.99[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1256116	0.94[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256117	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256118	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256121	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1256122	0.97[ASN][1000 genomes]
rs1273196	0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1952586	0.87[CEU][hapmap]
rs28590754	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019025	0.87[CEU][hapmap]
rs944050	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs944052	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.98[EUR][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	chr14:64804000-64805200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:64804000-64805600	Active TSS	Fetal Thymus	thymus
12	chr14:64804000-64806200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:64804000-64806200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:64804000-64806200	Active TSS	Fetal Kidney	kidney
15	chr14:64804200-64805600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:64804200-64805800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:64804200-64805800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:64804200-64805800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr14:64804200-64805800	Active TSS	HMEC	breast
20	chr14:64804200-64805800	Active TSS	NH-A	brain
21	chr14:64804200-64805800	Active TSS	NHDF-Ad	bronchial
22	chr14:64804200-64806000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:64804200-64806000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:64804200-64806000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:64804200-64806000	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:64804200-64806000	Active TSS	Fetal Brain Male	brain
27	chr14:64804200-64806000	Active TSS	Fetal Stomach	stomach
28	chr14:64804200-64806000	Active TSS	NHLF	lung
29	chr14:64804200-64806200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:64804200-64806200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:64804200-64806200	Active TSS	K562	blood
32	chr14:64804400-64805200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr14:64804400-64805200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr14:64804400-64805600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:64804400-64805600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:64804400-64805800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:64804400-64805800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:64804400-64805800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr14:64804400-64805800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr14:64804400-64805800	Active TSS	Fetal Brain Female	brain
41	chr14:64804400-64805800	Active TSS	Fetal Intestine Large	intestine
42	chr14:64804400-64805800	Active TSS	Fetal Lung	lung
43	chr14:64804400-64805800	Active TSS	Placenta	Placenta
44	chr14:64804400-64805800	Active TSS	Thymus	Thymus
45	chr14:64804400-64805800	Active TSS	HepG2	liver
46	chr14:64804400-64806000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:64804400-64806000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr14:64804400-64806000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr14:64804400-64806000	Active TSS	Ovary	ovary
50	chr14:64804400-64806000	Active TSS	Placenta Amnion	Placenta Amnion

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