Variant report

Variant	rs1256119
Chromosome Location	chr14:64806354-64806355
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:64804467-64806433	MCF-7	breast:	n/a	n/a
2	POLR2A	chr14:64804413-64806396	K562	blood:	n/a	n/a
3	MTA3	chr14:64805416-64806494	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:64804477-64806420	GM12891	blood:	n/a	n/a
5	POLR2A	chr14:64805456-64806444	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr14:64804545-64806542	ECC-1	luminal epithelium:	n/a	n/a
7	MXI1	chr14:64804059-64806486	SK-N-SH	brain:	n/a	n/a
8	GTF2F1	chr14:64804558-64806372	Hela-S3	cervix:	n/a	n/a
9	HCFC1	chr14:64803416-64806557	Hela-S3	cervix:	n/a	n/a
10	REST	chr14:64804327-64806413	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr14:64804551-64806369	HCT-116	colon:	n/a	n/a
12	POLR2A	chr14:64804365-64806365	U87	brain:	n/a	n/a
13	POLR2A	chr14:64804555-64806367	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:64804488-64806365	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr14:64804479-64806399	MCF-7	breast:	n/a	n/a
16	JUN	chr14:64805412-64806415	K562	blood:	n/a	chr14:64805452-64805461
17	POLR2A	chr14:64804483-64806464	Raji	blood:	n/a	n/a
18	POLR2A	chr14:64804375-64806391	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:14 , 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	chr14:64805548..64807062-chr14:64875819..64878728,2	MCF-7	breast:
4	chr14:64803906..64806572-chr14:64931229..64934369,3	MCF-7	breast:
5	chr14:64805958..64807632-chr20:17947706..17950221,2	MCF-7	breast:
6	chr14:64373323..64375325-chr14:64805642..64807746,2	MCF-7	breast:
7	chr14:64803252..64810182-chr14:64969982..64974147,9	K562	blood:
8	chr14:64805277..64807089-chr14:64853827..64855475,2	MCF-7	breast:
9	chr1:1003223..1005342-chr14:64805694..64807322,2	MCF-7	breast:
10	chr14:64803146..64808978-chr14:64966714..64972227,18	MCF-7	breast:
11	chr14:64805277..64807766-chr14:64933361..64935594,3	MCF-7	breast:
12	chr14:64799661..64807761-chr14:64967157..64973754,20	MCF-7	breast:
13	chr14:64803252..64809099-chr14:64968512..64973071,12	K562	blood:
14	chr14:64805337..64807131-chr14:64855517..64857176,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214770	TF binding region
ESR2	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000125871	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000179841	Chromatin interaction
ENSG00000089006	Chromatin interaction
ENSG00000100714	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1152585	0.81[EUR][1000 genomes]
rs1152602	0.89[EUR][1000 genomes]
rs11625778	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11629158	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1256027	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1256032	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1256034	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1256049	0.89[EUR][1000 genomes]
rs1256053	0.89[EUR][1000 genomes]
rs1256055	0.89[EUR][1000 genomes]
rs1256060	0.89[EUR][1000 genomes]
rs1256066	0.85[EUR][1000 genomes]
rs1256094	0.82[ASN][1000 genomes]
rs1256096	0.91[ASN][1000 genomes]
rs1256103	0.93[ASN][1000 genomes]
rs1256104	0.93[ASN][1000 genomes]
rs1256105	0.93[ASN][1000 genomes]
rs1256114	0.96[ASN][1000 genomes]
rs1256115	0.96[ASN][1000 genomes]
rs1256121	0.94[ASN][1000 genomes]
rs1256122	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1266976	0.92[ASN][1000 genomes]
rs2776606	0.92[EUR][1000 genomes]
rs941697	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944050	0.85[EUR][1000 genomes]
rs944052	0.96[ASN][1000 genomes]
rs944460	0.89[EUR][1000 genomes]
rs944461	0.89[EUR][1000 genomes]
rs953592	0.85[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64803800-64806400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr14:64804400-64806400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr14:64804400-64806400	Active TSS	Brain Germinal Matrix	brain
4	chr14:64804400-64806400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:64804400-64806400	Active TSS	A549	lung
6	chr14:64804800-64806400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr14:64804800-64806400	Active TSS	HSMMtube	muscle
8	chr14:64805600-64806400	Flanking Active TSS	Dnd41	blood
9	chr14:64805800-64806400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:64805800-64806400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:64805800-64806400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:64805800-64806400	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:64805800-64806400	Flanking Active TSS	NHEK	skin
14	chr14:64806000-64806400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:64806000-64806400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr14:64806000-64806400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:64806000-64806400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr14:64806000-64806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:64806000-64806400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:64806000-64806400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr14:64806000-64806400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:64806000-64806400	Flanking Active TSS	Fetal Brain Male	brain
23	chr14:64806000-64806400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:64806000-64806400	Flanking Active TSS	Hela-S3	cervix
25	chr14:64806000-64806600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:64806200-64806400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr14:64806200-64806400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr14:64806200-64806400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:64806200-64806400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:64806200-64806400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:64806200-64806400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr14:64806200-64806400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:64806200-64806400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:64806200-64806400	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:64806200-64806400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr14:64806200-64806400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:64806200-64806400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr14:64806200-64806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:64806200-64806400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:64806200-64806400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:64806200-64806400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:64806200-64806400	Enhancers	Brain Anterior Caudate	brain
43	chr14:64806200-64806400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:64806200-64806400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr14:64806200-64806400	Enhancers	Fetal Brain Female	brain
46	chr14:64806200-64806400	Enhancers	Fetal Heart	heart
47	chr14:64806200-64806400	Enhancers	Fetal Intestine Large	intestine
48	chr14:64806200-64806400	Enhancers	Fetal Intestine Small	intestine
49	chr14:64806200-64806400	Flanking Active TSS	Fetal Kidney	kidney
50	chr14:64806200-64806400	Enhancers	Fetal Lung	lung

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