Variant report

Variant	rs12514865
Chromosome Location	chr5:114765117-114765118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114764740..114766538-chr5:114878918..114880582,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519408	0.85[EUR][1000 genomes]
rs12514425	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12519685	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13162303	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17137802	0.84[EUR][1000 genomes]
rs35615508	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67370339	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71579498	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71579499	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71579500	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72815270	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:114758600-114765400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:114759400-114766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:114759600-114766000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:114759600-114766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:114759800-114767800	Weak transcription	Esophagus	oesophagus
7	chr5:114760000-114765400	Weak transcription	Pancreas	Pancrea
8	chr5:114760400-114766800	Weak transcription	Lung	lung
9	chr5:114760400-114767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:114762400-114770200	Weak transcription	Left Ventricle	heart
11	chr5:114762600-114767800	Weak transcription	HSMM	muscle
12	chr5:114762600-114776800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:114762800-114765400	Weak transcription	Osteobl	bone
14	chr5:114762800-114766600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:114762800-114768200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:114762800-114768200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:114762800-114771600	Weak transcription	NHLF	lung
18	chr5:114763200-114765400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:114763200-114766000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:114763400-114765600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:114764000-114765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr5:114764000-114766400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:114764200-114765200	Enhancers	Fetal Muscle Leg	muscle
24	chr5:114764200-114765800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:114764200-114766000	Enhancers	Stomach Mucosa	stomach
26	chr5:114764400-114765600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:114764400-114765600	Enhancers	NHDF-Ad	bronchial
28	chr5:114764400-114765800	Enhancers	Psoas Muscle	Psoas
29	chr5:114764400-114766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:114764400-114766000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:114764400-114767000	Enhancers	Gastric	stomach
32	chr5:114764600-114765400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:114764600-114765800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:114764600-114765800	Enhancers	Aorta	Aorta
35	chr5:114765000-114765200	Enhancers	A549	lung
36	chr5:114765000-114766000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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