Variant report

Variant	rs2781370
Chromosome Location	chr14:65691664-65691665
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	NFIC	chr14:65691459-65692687	GM12878	blood:	n/a	n/a
2	STAT5A	chr14:65691377-65691916	GM12878	blood:	n/a	n/a
3	RUNX3	chr14:65691391-65692799	GM12878	blood:	n/a	chr14:65692187-65692196 chr14:65692187-65692196
4	MTA3	chr14:65691323-65692740	GM12878	blood:	n/a	n/a
5	RUNX3	chr14:65691472-65692805	GM12878	blood:	n/a	chr14:65692187-65692196 chr14:65692187-65692196
6	EBF1	chr14:65691490-65691852	GM12878	blood:	n/a	chr14:65691679-65691690
7	IKZF1	chr14:65691447-65692683	GM12878	blood:	n/a	chr14:65691820-65691828 chr14:65691947-65691959
8	EBF1	chr14:65691481-65691809	GM12878	blood:	n/a	chr14:65691679-65691690

No.	Distal block	Cell Line	Cell type
1	chr14:65685682..65688470-chr14:65691307..65693933,2	MCF-7	breast:
2	chr14:65689494..65692237-chr14:65695472..65698101,2	K562	blood:
3	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
4	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
5	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:
6	chr14:65681059..65683272-chr14:65691597..65694149,3	MCF-7	breast:
7	chr14:65647388..65649639-chr14:65690929..65693608,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255002	TF binding region
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1256494	1.00[JPT][hapmap]
rs1256499	1.00[JPT][hapmap]
rs1760958	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1760960	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs7148809	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65688200-65696400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65688400-65693000	Enhancers	Primary T cells from cord blood	blood
3	chr14:65688800-65692800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr14:65689000-65692400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:65689000-65692800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:65689000-65693000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr14:65689200-65692200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:65689200-65695000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:65689400-65692000	Weak transcription	A549	lung
10	chr14:65689400-65692800	Weak transcription	Right Atrium	heart
11	chr14:65689400-65693200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:65689400-65696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:65689600-65691800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:65689800-65692200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:65690000-65696600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:65690200-65692400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr14:65690400-65692400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:65690800-65692200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr14:65691000-65692400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:65691000-65692600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:65691000-65696400	Enhancers	Primary B cells from cord blood	blood
22	chr14:65691000-65696400	Enhancers	Brain Substantia Nigra	brain
23	chr14:65691200-65692400	Enhancers	Small Intestine	intestine
24	chr14:65691200-65692800	Enhancers	Primary hematopoietic stem cells	blood
25	chr14:65691200-65693000	Enhancers	Fetal Thymus	thymus
26	chr14:65691200-65695200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:65691200-65696400	Enhancers	Fetal Intestine Large	intestine
28	chr14:65691200-65696600	Enhancers	Placenta	Placenta
29	chr14:65691200-65696600	Enhancers	Stomach Mucosa	stomach
30	chr14:65691400-65691800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:65691400-65691800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:65691400-65691800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:65691400-65691800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:65691400-65691800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr14:65691400-65691800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:65691400-65691800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:65691400-65691800	Enhancers	Aorta	Aorta
38	chr14:65691400-65691800	Enhancers	Brain Hippocampus Middle	brain
39	chr14:65691400-65691800	Enhancers	Gastric	stomach
40	chr14:65691400-65691800	Enhancers	Thymus	Thymus
41	chr14:65691400-65691800	Enhancers	NHEK	skin
42	chr14:65691400-65692000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr14:65691400-65692000	Enhancers	HMEC	breast
44	chr14:65691400-65692000	Enhancers	Osteobl	bone
45	chr14:65691400-65692200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr14:65691400-65692200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:65691400-65692200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr14:65691400-65692200	Enhancers	Fetal Stomach	stomach
49	chr14:65691400-65692200	Enhancers	Spleen	Spleen
50	chr14:65691400-65692200	Enhancers	HUVEC	blood vessel

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