Variant report

Variant	rs548888845
Chromosome Location	chr7:79906931-79906932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2761340	chr7:79905897-79922486	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79898800-79911000	Weak transcription	Small Intestine	intestine
2	chr7:79901600-79908000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:79903400-79907200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:79904200-79907000	Weak transcription	Brain Substantia Nigra	brain
5	chr7:79905600-79911000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:79905800-79909000	Weak transcription	Left Ventricle	heart
7	chr7:79905800-79909400	Enhancers	Hela-S3	cervix
8	chr7:79906000-79907000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:79906000-79907200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:79906200-79910200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:79906400-79907000	Flanking Active TSS	A549	lung
12	chr7:79906400-79907200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:79906400-79907400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:79906400-79907600	Enhancers	HMEC	breast
15	chr7:79906400-79907800	Enhancers	Fetal Lung	lung
16	chr7:79906400-79908000	Enhancers	Fetal Intestine Large	intestine
17	chr7:79906400-79908000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr7:79906400-79908400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:79906400-79908400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:79906400-79908400	Enhancers	Fetal Kidney	kidney
21	chr7:79906400-79909000	Enhancers	Colon Smooth Muscle	Colon
22	chr7:79906400-79909400	Enhancers	Fetal Intestine Small	intestine
23	chr7:79906600-79907000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:79906600-79907000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:79906600-79907200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:79906600-79907200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:79906600-79907200	Weak transcription	Ovary	ovary
28	chr7:79906600-79907400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:79906600-79907400	Enhancers	Brain Hippocampus Middle	brain
30	chr7:79906600-79907600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:79906600-79907800	Enhancers	NHLF	lung
32	chr7:79906600-79908200	Flanking Active TSS	NHEK	skin
33	chr7:79906600-79908400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:79906600-79909200	Enhancers	Adipose Nuclei	Adipose
35	chr7:79906600-79909200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:79906600-79912800	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:79906800-79907600	Enhancers	Osteobl	bone
38	chr7:79906800-79907800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:79906800-79907800	Enhancers	HSMM	muscle
40	chr7:79906800-79908000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:79906800-79908000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:79906800-79908000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:79906800-79908200	Enhancers	NH-A	brain
44	chr7:79906800-79908400	Enhancers	NHDF-Ad	bronchial
45	chr7:79906800-79908600	Enhancers	Duodenum Mucosa	Duodenum
46	chr7:79906800-79909200	Enhancers	Duodenum Smooth Muscle	Duodenum

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