Variant report

Variant	rs553497082
Chromosome Location	chr7:80241019-80241020
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80239752..80242160-chr7:80242540..80244695,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80234800-80241600	Enhancers	Fetal Intestine Small	intestine
2	chr7:80236800-80241200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:80237600-80242800	Enhancers	Liver	Liver
4	chr7:80237600-80243000	Enhancers	Fetal Heart	heart
5	chr7:80239200-80242200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:80239400-80241400	Enhancers	Adipose Nuclei	Adipose
7	chr7:80239400-80244600	Weak transcription	Right Atrium	heart
8	chr7:80240000-80241600	Enhancers	Fetal Intestine Large	intestine
9	chr7:80240000-80241600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:80240200-80241200	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:80240200-80241400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:80240200-80241400	Enhancers	Fetal Muscle Leg	muscle
13	chr7:80240200-80241800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:80240400-80241200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:80240400-80241200	Enhancers	Small Intestine	intestine
16	chr7:80240400-80241200	Flanking Active TSS	HepG2	liver
17	chr7:80240400-80241400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:80240400-80241400	Enhancers	Fetal Stomach	stomach
19	chr7:80240400-80241600	Enhancers	Fetal Lung	lung
20	chr7:80240400-80242200	Enhancers	Stomach Mucosa	stomach
21	chr7:80240400-80242600	Enhancers	Osteobl	bone
22	chr7:80240400-80244600	Weak transcription	Right Ventricle	heart
23	chr7:80240400-80245000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:80240600-80241200	Flanking Active TSS	A549	lung
25	chr7:80240600-80241600	Enhancers	Brain Substantia Nigra	brain
26	chr7:80240600-80241600	Enhancers	NHDF-Ad	bronchial
27	chr7:80240600-80242200	Weak transcription	Pancreas	Pancrea
28	chr7:80240600-80245200	Enhancers	Hela-S3	cervix
29	chr7:80240800-80241200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:80240800-80241200	Enhancers	Colon Smooth Muscle	Colon
31	chr7:80240800-80241400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:80240800-80241400	Enhancers	Ovary	ovary
33	chr7:80240800-80241600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:80240800-80241800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:80240800-80242800	Enhancers	NH-A	brain
36	chr7:80240800-80242800	Enhancers	NHLF	lung
37	chr7:80240800-80243000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:80240800-80243400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:80240800-80243800	Weak transcription	Left Ventricle	heart
40	chr7:80241000-80241400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:80241000-80241800	Enhancers	Rectal Smooth Muscle	rectum
42	chr7:80241000-80242000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr7:80241000-80246400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:80241000-80251200	Weak transcription	Psoas Muscle	Psoas

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