Variant report

Variant	rs269522
Chromosome Location	chr5:114764622-114764623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114761971..114764716-chr5:114811734..114814412,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10035674	0.82[EUR][1000 genomes]
rs10037534	0.83[EUR][1000 genomes]
rs10478233	0.81[EUR][1000 genomes]
rs10478234	0.82[EUR][1000 genomes]
rs12153505	0.85[EUR][1000 genomes]
rs13189995	0.82[EUR][1000 genomes]
rs17137847	0.85[EUR][1000 genomes]
rs1833716	0.85[EUR][1000 genomes]
rs28650823	0.85[EUR][1000 genomes]
rs2900095	0.84[EUR][1000 genomes]
rs56402249	0.83[EUR][1000 genomes]
rs7735894	0.82[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	chr5:114763000-114764800	Weak transcription	A549	lung
19	chr5:114763000-114765000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:114763200-114765400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:114763200-114766000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:114763400-114765600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:114764000-114765400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:114764000-114766400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:114764200-114765200	Enhancers	Fetal Muscle Leg	muscle
26	chr5:114764200-114765800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:114764200-114766000	Enhancers	Stomach Mucosa	stomach
28	chr5:114764400-114765600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:114764400-114765600	Enhancers	NHDF-Ad	bronchial
30	chr5:114764400-114765800	Enhancers	Psoas Muscle	Psoas
31	chr5:114764400-114766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:114764400-114766000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:114764400-114767000	Enhancers	Gastric	stomach
34	chr5:114764600-114765400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:114764600-114765800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:114764600-114765800	Enhancers	Aorta	Aorta

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