Variant report

Variant	rs4612973
Chromosome Location	chr14:39459367-39459368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39457540..39460115-chr14:39498272..39500421,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17108840	1.00[AMR][1000 genomes]
rs4567622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4576983	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5007115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv901657	chr14:39410706-39460072	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv564417	chr14:39452317-39535560	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39450000-39465000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:39455600-39464800	Weak transcription	Psoas Muscle	Psoas
3	chr14:39455800-39465200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:39457600-39461600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:39457800-39463800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:39458000-39459400	Weak transcription	Brain Hippocampus Middle	brain
7	chr14:39458400-39465000	Enhancers	HUVEC	blood vessel
8	chr14:39458600-39459600	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:39458600-39459600	Enhancers	Small Intestine	intestine
10	chr14:39458600-39459800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:39458800-39459600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:39458800-39459600	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr14:39458800-39463800	Weak transcription	Brain Substantia Nigra	brain
14	chr14:39459000-39459400	Active TSS	Primary hematopoietic stem cells	blood
15	chr14:39459000-39459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:39459000-39459400	Active TSS	Duodenum Mucosa	Duodenum
17	chr14:39459000-39459400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr14:39459000-39459400	Active TSS	GM12878-XiMat	blood
19	chr14:39459000-39459600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr14:39459000-39459600	Enhancers	Stomach Mucosa	stomach
21	chr14:39459000-39463800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:39459000-39464800	Weak transcription	Right Atrium	heart
23	chr14:39459200-39459600	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr14:39459200-39463800	Weak transcription	Brain Anterior Caudate	brain

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