Variant report

Variant	rs12101219
Chromosome Location	chr14:81917026-81917027
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	EBF1	chr14:81916560-81917245	GM12878	blood:	n/a	chr14:81916767-81916776 chr14:81916740-81916751 chr14:81916742-81916752 chr14:81916740-81916753 chr14:81916742-81916751 chr14:81916765-81916778

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:
2	chr14:81684333..81688496-chr14:81916691..81923354,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258675	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11159500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12185025	1.00[YRI][hapmap]
rs12434541	1.00[YRI][hapmap]
rs12435998	1.00[YRI][hapmap]
rs12586522	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12586556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12586611	1.00[AMR][1000 genomes]
rs12586817	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12589111	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12589155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12589750	1.00[CHD][hapmap];0.90[JPT][hapmap]
rs17111805	1.00[YRI][hapmap]
rs17111807	1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17111815	0.96[CHD][hapmap];0.82[JPT][hapmap]
rs17111817	1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs17111825	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17111839	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17111840	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17111848	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17560087	1.00[YRI][hapmap]
rs17847450	1.00[EUR][1000 genomes]
rs1998386	1.00[YRI][hapmap]
rs2371601	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28409508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3853422	0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58510940	1.00[EUR][1000 genomes]
rs58975890	0.96[ASN][1000 genomes]
rs731389	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81915000-81917400	Enhancers	HepG2	liver
3	chr14:81915200-81917400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:81915400-81917400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:81916000-81917200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:81916200-81919000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:81916200-81919200	Weak transcription	Liver	Liver
8	chr14:81916200-81921200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr14:81916400-81917200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr14:81916600-81919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:81916600-81919000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:81916600-81919200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:81916600-81919200	Weak transcription	Brain Anterior Caudate	brain
14	chr14:81916600-81919400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:81916600-81925800	Weak transcription	Spleen	Spleen
16	chr14:81916800-81917200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr14:81916800-81917600	Enhancers	Fetal Muscle Trunk	muscle
18	chr14:81916800-81917600	Enhancers	Fetal Muscle Leg	muscle
19	chr14:81916800-81918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:81916800-81919000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:81916800-81919000	Weak transcription	Brain Substantia Nigra	brain
22	chr14:81916800-81919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:81916800-81919200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:81916800-81919200	Weak transcription	Psoas Muscle	Psoas
25	chr14:81916800-81919400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:81916800-81919400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:81917000-81917200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr14:81917000-81917400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:81917000-81917600	Bivalent Enhancer	Brain Germinal Matrix	brain
30	chr14:81917000-81918800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:81917000-81918800	Weak transcription	HSMMtube	muscle
32	chr14:81917000-81919000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:81917000-81919000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:81917000-81919000	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:81917000-81919000	Weak transcription	HSMM	muscle
36	chr14:81917000-81919000	Weak transcription	NHDF-Ad	bronchial
37	chr14:81917000-81919200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:81917000-81919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr14:81917000-81919200	Weak transcription	Ovary	ovary
40	chr14:81917000-81919400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:81917000-81919400	Weak transcription	Fetal Stomach	stomach
42	chr14:81917000-81921000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:81917000-81931000	Weak transcription	Placenta	Placenta

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