Variant report

Variant	rs12519685
Chromosome Location	chr5:114759651-114759652
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	chr5:114755931..114757845-chr5:114758052..114760367,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12514425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12514865	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13162303	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17137774	0.90[EUR][1000 genomes]
rs3852203	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67370339	0.81[AMR][1000 genomes]
rs71579498	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71579499	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71579500	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72815270	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114751200-114760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:114754000-114761600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:114755200-114762200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:114756400-114761600	Weak transcription	NH-A	brain
6	chr5:114756400-114762200	Weak transcription	Small Intestine	intestine
7	chr5:114757800-114760200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:114758000-114759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:114758000-114759800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:114758000-114759800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:114758000-114760000	Enhancers	Adipose Nuclei	Adipose
12	chr5:114758000-114760000	Enhancers	Psoas Muscle	Psoas
13	chr5:114758000-114760000	Enhancers	Stomach Mucosa	stomach
14	chr5:114758000-114760000	Enhancers	HUVEC	blood vessel
15	chr5:114758000-114760000	Enhancers	NHDF-Ad	bronchial
16	chr5:114758000-114760400	Enhancers	Fetal Muscle Leg	muscle
17	chr5:114758000-114760400	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:114758000-114760600	Enhancers	Colonic Mucosa	Colon
19	chr5:114758000-114760600	Enhancers	Colon Smooth Muscle	Colon
20	chr5:114758000-114760600	Enhancers	Right Ventricle	heart
21	chr5:114758000-114760800	Enhancers	Fetal Heart	heart
22	chr5:114758000-114762400	Enhancers	Left Ventricle	heart
23	chr5:114758000-114762400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:114758000-114762800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:114758400-114759800	Enhancers	Hela-S3	cervix
26	chr5:114758400-114760000	Enhancers	NHEK	skin
27	chr5:114758400-114760200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr5:114758400-114760200	Enhancers	HSMM	muscle
29	chr5:114758600-114759800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:114758600-114760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:114758600-114760000	Enhancers	NHLF	lung
32	chr5:114758600-114765400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:114758800-114759800	Weak transcription	Right Atrium	heart
34	chr5:114759000-114760000	Enhancers	Pancreas	Pancrea
35	chr5:114759000-114760400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr5:114759200-114759800	Enhancers	Esophagus	oesophagus
37	chr5:114759200-114760000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:114759200-114760000	Enhancers	Fetal Muscle Trunk	muscle
39	chr5:114759400-114760200	Flanking Active TSS	HSMMtube	muscle
40	chr5:114759400-114760400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:114759400-114760400	Enhancers	Lung	lung
42	chr5:114759400-114762200	Weak transcription	A549	lung
43	chr5:114759400-114766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:114759600-114760000	Enhancers	Fetal Stomach	stomach
45	chr5:114759600-114760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:114759600-114761600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:114759600-114761800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr5:114759600-114762200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:114759600-114762200	Weak transcription	Osteobl	bone
50	chr5:114759600-114764400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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