Variant report

Variant	rs7144530
Chromosome Location	chr14:65840566-65840567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65838757..65840955-chr14:65879033..65881007,2	MCF-7	breast:
2	chr14:65840512..65842784-chr14:65876674..65879112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10144720	0.87[CEU][hapmap]
rs1038239	0.86[EUR][1000 genomes]
rs11158584	0.85[CEU][hapmap]
rs11846705	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1256537	0.86[EUR][1000 genomes]
rs1256541	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs1256542	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs1256544	0.86[EUR][1000 genomes]
rs17180994	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2101084	0.85[CEU][hapmap]
rs2411915	0.86[EUR][1000 genomes]
rs3986780	0.86[EUR][1000 genomes]
rs4899175	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015222	0.87[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020305	0.87[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs8021946	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8023016	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs899960	0.88[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65834200-65843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:65838800-65841600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr14:65839400-65840600	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:65839600-65840800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:65839800-65840600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:65840000-65840600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr14:65840000-65840600	Enhancers	Psoas Muscle	Psoas
8	chr14:65840000-65840800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:65840000-65840800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:65840000-65840800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr14:65840200-65840800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:65840200-65840800	Enhancers	Fetal Muscle Trunk	muscle
13	chr14:65840200-65840800	Active TSS	Ovary	ovary
14	chr14:65840400-65840600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:65840400-65840600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:65840400-65840600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:65840400-65840600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:65840400-65840600	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:65840400-65840600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:65840400-65840600	Flanking Active TSS	Stomach Mucosa	stomach
21	chr14:65840400-65840600	Active TSS	HMEC	breast
22	chr14:65840400-65840600	Flanking Active TSS	K562	blood
23	chr14:65840400-65840600	Active TSS	NHEK	skin
24	chr14:65840400-65840800	Enhancers	Placenta	Placenta
25	chr14:65840400-65841000	Active TSS	Brain Hippocampus Middle	brain
26	chr14:65840400-65841400	Enhancers	Brain Substantia Nigra	brain
27	chr14:65840400-65844200	Weak transcription	NHDF-Ad	bronchial
28	chr14:65840400-65844400	Weak transcription	GM12878-XiMat	blood
29	chr14:65840400-65850800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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