Variant report

Variant	rs375038
Chromosome Location	chr14:65323690-65323691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65323025..65326234-chr14:65450738..65453663,4	MCF-7	breast:
2	chr14:65280294..65282900-chr14:65322430..65324178,2	MCF-7	breast:
3	chr14:65293069..65296062-chr14:65321540..65323696,2	K562	blood:
4	chr14:65313283..65315169-chr14:65321927..65324245,2	K562	blood:
5	chr14:65315035..65317899-chr14:65322274..65327051,4	MCF-7	breast:
6	chr14:65318120..65320301-chr14:65322198..65325013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs230697	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs230717	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs2649194	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs376295	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs56818480	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60454817	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61012404	0.88[AFR][1000 genomes]
rs66883381	0.80[AFR][1000 genomes]
rs7144515	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs7144637	0.88[AFR][1000 genomes]
rs73279812	0.88[AFR][1000 genomes]
rs73279816	0.87[AFR][1000 genomes]
rs73279823	0.88[AFR][1000 genomes]
rs73279833	0.88[AFR][1000 genomes]
rs73279834	0.88[AFR][1000 genomes]
rs73279839	0.88[AFR][1000 genomes]
rs73279848	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8019346	0.88[AFR][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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65315400-65324600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65319400-65324200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr14:65319400-65332600	Weak transcription	Right Atrium	heart
4	chr14:65320200-65328400	Weak transcription	Fetal Heart	heart
5	chr14:65321000-65324000	Enhancers	Psoas Muscle	Psoas
6	chr14:65321000-65324800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr14:65321400-65324000	Enhancers	Fetal Muscle Leg	muscle
8	chr14:65322400-65323800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:65322400-65324000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:65322400-65325400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:65322400-65325600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:65322600-65323800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:65322600-65325600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:65322600-65325600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:65322800-65328200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:65323000-65324800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:65323000-65330000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:65323200-65324600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr14:65323200-65324800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:65323200-65324800	Weak transcription	Right Ventricle	heart
21	chr14:65323200-65325200	Weak transcription	Left Ventricle	heart
22	chr14:65323400-65324600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:65323600-65324600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:65323600-65324800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:65323600-65324800	Weak transcription	K562	blood
26	chr14:65323600-65325200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:65323600-65328400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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