Variant report

Variant	rs1152598
Chromosome Location	chr14:64669363-64669364
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64667402..64671365-chr14:64674791..64677546,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1152596	0.84[AFR][1000 genomes]
rs1152597	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1152600	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1255980	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255981	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1255982	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255983	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255985	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1255989	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1255993	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255994	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1255996	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1266926	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1271028	0.90[AMR][1000 genomes];0.93[ASN][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv902021	chr14:64647646-64715794	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64650800-64671800	Strong transcription	Liver	Liver
2	chr14:64660800-64682600	Weak transcription	Hela-S3	cervix
3	chr14:64661600-64675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:64661600-64675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:64661800-64675400	Weak transcription	NHEK	skin
6	chr14:64661800-64675600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:64662400-64675200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:64662800-64674800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:64664000-64699600	Weak transcription	Small Intestine	intestine
10	chr14:64664200-64675000	Weak transcription	Aorta	Aorta
11	chr14:64664200-64675000	Weak transcription	Colonic Mucosa	Colon
12	chr14:64664200-64675400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:64664200-64676200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:64664200-64698600	Weak transcription	HMEC	breast
15	chr14:64664400-64672800	Weak transcription	Fetal Kidney	kidney
16	chr14:64664400-64675800	Weak transcription	NHLF	lung
17	chr14:64664800-64669400	Enhancers	Ovary	ovary
18	chr14:64664800-64672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:64665000-64671000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:64665000-64672400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:64665000-64673800	Enhancers	Thymus	Thymus
22	chr14:64665000-64674800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr14:64665000-64675600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:64665200-64670800	Enhancers	Pancreas	Pancrea
25	chr14:64665200-64672000	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:64665200-64676600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:64665400-64674800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:64665400-64675400	Weak transcription	Brain Anterior Caudate	brain
29	chr14:64665400-64700200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:64666000-64675200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:64666200-64669600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:64666200-64674800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:64666200-64675400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:64666200-64675800	Weak transcription	Brain Angular Gyrus	brain
35	chr14:64666200-64678600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:64666200-64686000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:64666400-64669600	Enhancers	Left Ventricle	heart
38	chr14:64666800-64699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr14:64667000-64670000	Strong transcription	Dnd41	blood
40	chr14:64667000-64670200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr14:64667000-64670800	Enhancers	Fetal Thymus	thymus
42	chr14:64667200-64675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:64667200-64675000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:64667400-64669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:64667400-64669800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:64667400-64670200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:64667400-64670800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:64667400-64672200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:64667400-64674800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:64667400-64675000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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