Variant report

Variant	rs58253022
Chromosome Location	chr4:7987756-7987757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28373141	1.00[AMR][1000 genomes]
rs28444363	1.00[AMR][1000 genomes]
rs62636597	1.00[AMR][1000 genomes]
rs6814511	1.00[AMR][1000 genomes]
rs6814649	1.00[AMR][1000 genomes]
rs6826354	1.00[AMR][1000 genomes]
rs6834502	1.00[AMR][1000 genomes]
rs6848279	1.00[AMR][1000 genomes]
rs6848487	1.00[AMR][1000 genomes]
rs6848677	1.00[AMR][1000 genomes]
rs7664180	1.00[AMR][1000 genomes]
rs7665218	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv878579	chr4:7969594-8011696	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7974400-7989400	Weak transcription	Gastric	stomach
2	chr4:7975800-7988400	Weak transcription	Aorta	Aorta
3	chr4:7975800-8004800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:7976000-7988000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:7978800-7987800	Weak transcription	Fetal Kidney	kidney
6	chr4:7978800-8006000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:7979600-8011400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:7980800-7987800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:7981000-7987800	Weak transcription	Left Ventricle	heart
10	chr4:7981000-7989400	Weak transcription	A549	lung
11	chr4:7981000-7992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:7981600-7989400	Weak transcription	Esophagus	oesophagus
13	chr4:7982200-7987800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:7983600-7988200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7983800-7987800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:7985400-8004800	Weak transcription	Brain Angular Gyrus	brain
17	chr4:7985600-7987800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:7986000-7987800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr4:7986000-7988000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:7986000-7988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7986200-7988200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:7986400-7988000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:7986800-7988000	Weak transcription	Colonic Mucosa	Colon
24	chr4:7986800-7993600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:7986800-8011400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:7987000-7988200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:7987200-7987800	Enhancers	Stomach Smooth Muscle	stomach
28	chr4:7987200-7988000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:7987200-7988000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr4:7987200-7988200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr4:7987400-7987800	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr4:7987400-7987800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:7987400-7987800	Enhancers	Spleen	Spleen
34	chr4:7987400-7988000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr4:7987400-7988000	Enhancers	Lung	lung
36	chr4:7987400-7988200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:7987400-7988200	Enhancers	Fetal Heart	heart
38	chr4:7987400-7988200	Bivalent Enhancer	Placenta	Placenta
39	chr4:7987400-7988200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr4:7987400-7988200	Enhancers	NH-A	brain
41	chr4:7987400-7988400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:7987400-7988400	Enhancers	Small Intestine	intestine
43	chr4:7987400-7988600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:7987400-7988600	Enhancers	Fetal Intestine Small	intestine
45	chr4:7987400-7989000	Enhancers	Fetal Intestine Large	intestine
46	chr4:7987400-7990600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr4:7987600-7987800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr4:7987600-7987800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:7987600-7987800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:7987600-7987800	Enhancers	Adipose Nuclei	Adipose

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