Variant report

Variant	rs61793408
Chromosome Location	chr4:22500472-22500473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17600487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870956	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61793400	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793401	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793418	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6818233	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6824902	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22485600-22501400	Weak transcription	Hela-S3	cervix
3	chr4:22485600-22502000	Weak transcription	A549	lung
4	chr4:22486400-22500600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:22488400-22503000	Weak transcription	Small Intestine	intestine
6	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:22488800-22503600	Weak transcription	NHLF	lung
8	chr4:22489400-22500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:22489600-22503800	Weak transcription	HSMM	muscle
10	chr4:22490200-22500600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:22490200-22501600	Weak transcription	Psoas Muscle	Psoas
12	chr4:22490200-22503600	Weak transcription	Right Ventricle	heart
13	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
14	chr4:22492600-22500800	Weak transcription	Fetal Heart	heart
15	chr4:22492800-22501400	Weak transcription	Liver	Liver
16	chr4:22492800-22506000	Weak transcription	Lung	lung
17	chr4:22493200-22504000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:22493800-22501000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr4:22493800-22501400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:22493800-22501600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:22493800-22501800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:22494000-22501200	Weak transcription	Fetal Intestine Large	intestine
24	chr4:22495000-22501000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:22495400-22500600	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:22495400-22501200	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:22495400-22501800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:22495400-22502000	Weak transcription	Left Ventricle	heart
29	chr4:22496200-22500600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
31	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:22498200-22500600	Weak transcription	Ovary	ovary
33	chr4:22498400-22502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:22498400-22503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:22498600-22501800	Weak transcription	Pancreas	Pancrea
36	chr4:22498800-22500600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:22498800-22500600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:22498800-22502000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:22498800-22502000	Weak transcription	NH-A	brain
40	chr4:22499400-22501800	Weak transcription	Gastric	stomach
41	chr4:22499600-22502000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:22499800-22500600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:22500200-22502800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:22500400-22500600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr4:22500400-22500800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr4:22500400-22501000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:22500400-22501000	Enhancers	HepG2	liver
49	chr4:22500400-22501800	Enhancers	NHEK	skin
50	chr4:22500400-22502200	Enhancers	Rectal Mucosa Donor 31	rectum

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