Variant report

Variant	rs545553074
Chromosome Location	chr5:16935914-16935915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:3785424..3786388-chr5:16935883..16936687,2	Hela-S3	cervix:
2	chr5:16934667..16937598-chr5:17155353..17157351,2	MCF-7	breast:
3	chr1:151511929..151514676-chr5:16935884..16938127,2	MCF-7	breast:
4	chr5:16913129..16917002-chr5:16934060..16938960,5	MCF-7	breast:
5	chr5:16933857..16935914-chr5:17189210..17191344,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251990	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000145555	Chromatin interaction
ENSG00000007264	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762500	chr5:16815489-16952565	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3485757	chr5:16856475-16966851	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3485758	chr5:16856475-16966851	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	esv3441038	chr5:16934977-16937825	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16931800-16937000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:16932600-16937000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:16932600-16937000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:16932600-16937200	Active TSS	HSMMtube	muscle
5	chr5:16932800-16936200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr5:16933000-16936800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:16933000-16937400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:16933400-16937000	Active TSS	Gastric	stomach
9	chr5:16933400-16937000	Active TSS	A549	lung
10	chr5:16933600-16937000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:16933600-16937000	Active TSS	Aorta	Aorta
12	chr5:16933600-16937000	Active TSS	NHDF-Ad	bronchial
13	chr5:16933800-16936800	Active TSS	HUVEC	blood vessel
14	chr5:16933800-16936800	Active TSS	NH-A	brain
15	chr5:16933800-16937000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:16933800-16937000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:16933800-16937000	Active TSS	HSMM	muscle
18	chr5:16933800-16937000	Active TSS	NHLF	lung
19	chr5:16933800-16937200	Active TSS	Ovary	ovary
20	chr5:16934000-16936200	Bivalent/Poised TSS	Colonic Mucosa	Colon
21	chr5:16934000-16936600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:16934000-16936800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:16934000-16937000	Active TSS	Fetal Intestine Large	intestine
24	chr5:16934000-16937000	Active TSS	Fetal Lung	lung
25	chr5:16934000-16937000	Active TSS	Lung	lung
26	chr5:16934000-16937000	Active TSS	NHEK	skin
27	chr5:16934000-16937200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:16934200-16936800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:16934200-16936800	Active TSS	HMEC	breast
30	chr5:16934200-16937000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:16934200-16937000	Active TSS	Duodenum Mucosa	Duodenum
32	chr5:16934200-16937000	Active TSS	Fetal Kidney	kidney
33	chr5:16934200-16937000	Active TSS	Pancreas	Pancrea
34	chr5:16934200-16937000	Active TSS	Osteobl	bone
35	chr5:16934400-16936600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
36	chr5:16934400-16936800	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr5:16934400-16936800	Active TSS	Small Intestine	intestine
38	chr5:16934400-16937000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr5:16934400-16937000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:16934400-16937000	Active TSS	Right Atrium	heart
41	chr5:16934400-16937000	Active TSS	Stomach Mucosa	stomach
42	chr5:16934400-16937200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
43	chr5:16934400-16937200	Active TSS	Esophagus	oesophagus
44	chr5:16934400-16937200	Active TSS	Psoas Muscle	Psoas
45	chr5:16934600-16936600	Active TSS	Placenta	Placenta
46	chr5:16934600-16936800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:16934600-16936800	Active TSS	Muscle Satellite Cultured Cells	--
48	chr5:16934600-16937000	Active TSS	Fetal Intestine Small	intestine
49	chr5:16934800-16936000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr5:16934800-16936400	Active TSS	Fetal Muscle Leg	muscle

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