Variant report

Variant	rs6812519
Chromosome Location	chr4:22484022-22484023
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11932316	1.00[AMR][1000 genomes]
rs56029242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56383378	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56965161	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57310135	1.00[EUR][1000 genomes]
rs58098085	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59383860	1.00[EUR][1000 genomes]
rs61574687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61588486	1.00[EUR][1000 genomes]
rs61793366	0.97[AFR][1000 genomes]
rs61793367	0.97[AFR][1000 genomes]
rs73800932	1.00[EUR][1000 genomes]
rs73800934	1.00[EUR][1000 genomes]
rs73800935	1.00[EUR][1000 genomes]
rs73800940	1.00[EUR][1000 genomes]
rs73800946	1.00[EUR][1000 genomes]
rs73800949	1.00[EUR][1000 genomes]
rs73800956	1.00[EUR][1000 genomes]
rs73800958	1.00[EUR][1000 genomes]
rs73800959	1.00[EUR][1000 genomes]
rs73800963	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800964	1.00[EUR][1000 genomes]
rs73802816	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802819	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802821	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802827	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73802832	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73802835	1.00[AMR][1000 genomes]
rs73802836	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666836	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7666972	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
2	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:22456800-22485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:22472600-22484200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:22472600-22484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:22472600-22486200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:22473200-22487400	Weak transcription	Right Ventricle	heart
9	chr4:22473400-22484400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:22473600-22484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:22474200-22486200	Weak transcription	Fetal Stomach	stomach
12	chr4:22474400-22484200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:22474400-22484400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:22474600-22484200	Weak transcription	HSMMtube	muscle
15	chr4:22475000-22484800	Weak transcription	Fetal Intestine Large	intestine
16	chr4:22475000-22489400	Weak transcription	Lung	lung
17	chr4:22475200-22484200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:22475200-22486000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:22476600-22484400	Weak transcription	Psoas Muscle	Psoas
20	chr4:22476600-22485200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:22476600-22487200	Weak transcription	Small Intestine	intestine
22	chr4:22477000-22484600	Weak transcription	Hela-S3	cervix
23	chr4:22477000-22484800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:22477000-22485000	Weak transcription	A549	lung
25	chr4:22477200-22484400	Weak transcription	Pancreas	Pancrea
26	chr4:22477800-22489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr4:22478000-22484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:22478000-22484600	Weak transcription	HepG2	liver
29	chr4:22479400-22484600	Weak transcription	Fetal Lung	lung
30	chr4:22479600-22485000	Weak transcription	Colon Smooth Muscle	Colon
31	chr4:22479800-22484400	Weak transcription	Osteobl	bone
32	chr4:22479800-22484600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr4:22479800-22485000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:22480200-22485200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:22480400-22484400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:22480400-22484800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr4:22480400-22485400	Weak transcription	Fetal Intestine Small	intestine
38	chr4:22480400-22485600	Weak transcription	Primary T cells from cord blood	blood
39	chr4:22482200-22488800	Enhancers	HMEC	breast
40	chr4:22482400-22484400	Enhancers	NHEK	skin
41	chr4:22482400-22485400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:22482400-22485600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr4:22482400-22486600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:22482800-22484200	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:22482800-22486200	Weak transcription	Ovary	ovary
46	chr4:22483000-22484200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:22483000-22484400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr4:22483000-22487400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:22483000-22488400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:22483200-22484200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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