Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:65293736..65296089-chr14:65308632..65311499,2	K562	blood:
2	chr14:65310132..65313690-chr14:65314321..65317713,3	K562	blood:
3	chr14:65310132..65314457-chr14:65315119..65319141,7	K562	blood:
4	chr14:65309823..65312590-chr14:65316420..65318334,2	MCF-7	breast:
5	chr14:65308370..65310775-chr14:65344440..65346663,2	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs230700	0.85[YRI][hapmap]
rs230717	0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap]
rs2649194	0.81[YRI][hapmap]
rs375038	0.87[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376295	0.81[YRI][hapmap]
rs56818480	1.00[AMR][1000 genomes]
rs60454817	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61012404	0.83[AFR][1000 genomes]
rs7144515	0.87[ASW][hapmap];0.82[LWK][hapmap]
rs7144637	0.83[AFR][1000 genomes]
rs7152349	1.00[MEX][hapmap]
rs73279812	0.83[AFR][1000 genomes]
rs73279816	0.81[AFR][1000 genomes]
rs73279823	0.83[AFR][1000 genomes]
rs73279833	0.83[AFR][1000 genomes]
rs73279834	0.83[AFR][1000 genomes]
rs73279839	0.83[AFR][1000 genomes]
rs73279848	0.87[AMR][1000 genomes]
rs8006570	0.80[LWK][hapmap];1.00[MEX][hapmap]
rs8019346	0.83[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65307000-65314200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65308200-65311000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr14:65308400-65311000	Enhancers	Fetal Heart	heart
4	chr14:65308600-65310800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:65308800-65311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:65309000-65310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:65309000-65310400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:65309000-65311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:65309000-65311200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:65309200-65312000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:65309600-65313000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr14:65309800-65311000	Genic enhancers	K562	blood
13	chr14:65309800-65311200	Enhancers	Right Ventricle	heart
14	chr14:65310000-65310600	Enhancers	Right Atrium	heart
15	chr14:65310000-65311000	Enhancers	Left Ventricle	heart
16	chr14:65310000-65311800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr14:65310000-65314800	Enhancers	Psoas Muscle	Psoas
18	chr14:65310200-65310800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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