Variant report

Variant	rs544040343
Chromosome Location	chr5:114758098-114758099
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	chr5:114755931..114757845-chr5:114758052..114760367,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv2609149	chr5:114755821-114758499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3469754	chr5:114756153-114758181	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1933109	chr5:114756302-114758101	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3361244	chr5:114756303-114758901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1808281	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1808592	chr5:114756637-114759167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1820791	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv1822690	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv1842990	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv1850498	chr5:114756637-114759167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv442960	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114751200-114759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:114751200-114760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:114751800-114759400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:114752000-114759400	Weak transcription	Lung	lung
5	chr5:114752600-114758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:114753400-114758600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:114754000-114761600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
9	chr5:114755000-114758400	Weak transcription	Pancreas	Pancrea
10	chr5:114755200-114758400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:114755200-114762200	Weak transcription	Fetal Intestine Small	intestine
12	chr5:114756200-114758200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:114756200-114758400	Weak transcription	HSMM	muscle
14	chr5:114756200-114758400	Weak transcription	HSMMtube	muscle
15	chr5:114756200-114758600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:114756200-114758600	Weak transcription	A549	lung
17	chr5:114756200-114758600	Weak transcription	NHLF	lung
18	chr5:114756200-114759200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:114756400-114758400	Weak transcription	Hela-S3	cervix
20	chr5:114756400-114758400	Weak transcription	NHEK	skin
21	chr5:114756400-114758600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:114756400-114758600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:114756400-114758600	Weak transcription	Osteobl	bone
24	chr5:114756400-114761600	Weak transcription	NH-A	brain
25	chr5:114756400-114762200	Weak transcription	Small Intestine	intestine
26	chr5:114757800-114760200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:114758000-114758200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:114758000-114758400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:114758000-114758600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:114758000-114758800	Enhancers	Right Atrium	heart
31	chr5:114758000-114759000	Enhancers	Stomach Smooth Muscle	stomach
32	chr5:114758000-114759600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:114758000-114759600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:114758000-114759600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:114758000-114759600	Enhancers	HMEC	breast
36	chr5:114758000-114759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:114758000-114759800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:114758000-114759800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:114758000-114760000	Enhancers	Adipose Nuclei	Adipose
40	chr5:114758000-114760000	Enhancers	Psoas Muscle	Psoas
41	chr5:114758000-114760000	Enhancers	Stomach Mucosa	stomach
42	chr5:114758000-114760000	Enhancers	HUVEC	blood vessel
43	chr5:114758000-114760000	Enhancers	NHDF-Ad	bronchial
44	chr5:114758000-114760400	Enhancers	Fetal Muscle Leg	muscle
45	chr5:114758000-114760400	Enhancers	Rectal Smooth Muscle	rectum
46	chr5:114758000-114760600	Enhancers	Colonic Mucosa	Colon
47	chr5:114758000-114760600	Enhancers	Colon Smooth Muscle	Colon
48	chr5:114758000-114760600	Enhancers	Right Ventricle	heart
49	chr5:114758000-114760800	Enhancers	Fetal Heart	heart
50	chr5:114758000-114762400	Enhancers	Left Ventricle	heart

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