Variant report

Variant	rs7158347
Chromosome Location	chr14:65828955-65828956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:69168663..69171302-chr14:65828198..65830318,2	MCF-7	breast:
2	chr14:65820274..65829265-chr14:65876318..65881127,26	MCF-7	breast:
3	chr14:65694260..65697862-chr14:65826001..65829124,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11158591	0.88[EUR][1000 genomes]
rs11621121	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621604	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11623920	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627402	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12878872	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12881755	0.88[ASN][1000 genomes]
rs12881911	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882269	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12886005	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12886168	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12895337	0.96[ASN][1000 genomes]
rs1815654	0.89[EUR][1000 genomes]
rs1954052	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899174	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902391	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902393	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143666	0.96[ASN][1000 genomes]
rs7152441	0.90[ASN][1000 genomes]
rs7157006	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747541	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8014475	0.96[ASN][1000 genomes]
rs8022094	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65821600-65831600	Weak transcription	Esophagus	oesophagus
2	chr14:65822600-65834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:65823600-65829000	Weak transcription	HSMM	muscle
4	chr14:65824400-65829000	Weak transcription	Placenta	Placenta
5	chr14:65824400-65839800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:65824600-65829000	Weak transcription	Hela-S3	cervix
7	chr14:65824600-65833200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:65824600-65839800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:65824800-65836200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:65826400-65840000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:65827400-65829000	Weak transcription	Fetal Stomach	stomach
12	chr14:65827600-65829000	Weak transcription	HSMMtube	muscle
13	chr14:65827800-65832800	Weak transcription	GM12878-XiMat	blood
14	chr14:65828000-65833200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr14:65828200-65829200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:65828200-65829400	Enhancers	Fetal Muscle Trunk	muscle
17	chr14:65828400-65829200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:65828600-65829000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:65828600-65829000	Active TSS	Brain Hippocampus Middle	brain
20	chr14:65828600-65829000	Enhancers	Colon Smooth Muscle	Colon
21	chr14:65828600-65829200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:65828600-65829200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:65828600-65829400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:65828600-65829400	Enhancers	NHDF-Ad	bronchial
25	chr14:65828600-65829400	Enhancers	NHEK	skin
26	chr14:65828600-65829400	Enhancers	Osteobl	bone
27	chr14:65828800-65829000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
28	chr14:65828800-65829000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:65828800-65829200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:65828800-65829200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:65828800-65829200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:65828800-65829200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:65828800-65829200	Enhancers	Brain Anterior Caudate	brain
34	chr14:65828800-65829200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:65828800-65829200	Enhancers	Fetal Kidney	kidney
36	chr14:65828800-65829200	Enhancers	Fetal Lung	lung
37	chr14:65828800-65829200	Enhancers	Ovary	ovary
38	chr14:65828800-65829200	Enhancers	Psoas Muscle	Psoas
39	chr14:65828800-65829200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr14:65828800-65829200	Enhancers	Small Intestine	intestine
41	chr14:65828800-65829200	Enhancers	Stomach Mucosa	stomach
42	chr14:65828800-65829200	Enhancers	HMEC	breast
43	chr14:65828800-65829200	Enhancers	NH-A	brain
44	chr14:65828800-65829400	Enhancers	Cortex derived primary cultured neurospheres	brain

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