Variant report

Variant	rs57726071
Chromosome Location	chr4:148828130-148828131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10029241	1.00[EUR][1000 genomes]
rs10029666	1.00[EUR][1000 genomes]
rs17024101	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024113	1.00[ASN][1000 genomes]
rs28375864	1.00[EUR][1000 genomes]
rs28522552	1.00[EUR][1000 genomes]
rs28529145	1.00[EUR][1000 genomes]
rs28592193	1.00[EUR][1000 genomes]
rs28594565	1.00[EUR][1000 genomes]
rs28633738	1.00[EUR][1000 genomes]
rs28637907	1.00[EUR][1000 genomes]
rs28687202	1.00[EUR][1000 genomes]
rs28716209	1.00[EUR][1000 genomes]
rs36114707	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59333422	1.00[EUR][1000 genomes]
rs59532898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60042934	1.00[EUR][1000 genomes]
rs61012783	1.00[EUR][1000 genomes]
rs61764246	1.00[EUR][1000 genomes]
rs72957750	1.00[EUR][1000 genomes]
rs73853989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893032	1.00[ASN][1000 genomes]
rs9996205	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880244	chr4:148764252-148920089	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1029845	chr4:148766290-148916437	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1030001	chr4:148773479-148916437	Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1017904	chr4:148814133-148975348	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148786000-148861400	Weak transcription	Pancreas	Pancrea
2	chr4:148796800-148863200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr4:148796800-148866000	Weak transcription	Thymus	Thymus
4	chr4:148797000-148834200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:148797000-148835800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:148797400-148879600	Weak transcription	Gastric	stomach
7	chr4:148801800-148830200	Weak transcription	NHEK	skin
8	chr4:148804600-148854400	Weak transcription	Psoas Muscle	Psoas
9	chr4:148810600-148829800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:148820600-148833400	Weak transcription	Left Ventricle	heart
11	chr4:148820600-148861200	Weak transcription	Esophagus	oesophagus
12	chr4:148820800-148848800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:148823400-148836600	Weak transcription	Placenta	Placenta
14	chr4:148823600-148831600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:148823600-148833400	Weak transcription	Fetal Stomach	stomach
16	chr4:148823600-148833800	Weak transcription	NHLF	lung
17	chr4:148823600-148834600	Weak transcription	Fetal Intestine Large	intestine
18	chr4:148824400-148828400	Weak transcription	Aorta	Aorta
19	chr4:148824400-148830200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:148824400-148831000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:148824400-148842800	Weak transcription	Lung	lung
22	chr4:148824400-148854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:148824600-148854400	Weak transcription	Right Ventricle	heart
24	chr4:148824800-148833400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:148825000-148834000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148825000-148836200	Weak transcription	HMEC	breast
27	chr4:148825200-148830200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:148825200-148831600	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:148825200-148834000	Weak transcription	NHDF-Ad	bronchial
30	chr4:148825200-148835400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:148825200-148839600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr4:148825200-148847400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr4:148825200-148848400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:148825400-148828200	Weak transcription	Adipose Nuclei	Adipose
35	chr4:148825400-148828600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:148825400-148829800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:148825400-148830000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr4:148825400-148830000	Weak transcription	GM12878-XiMat	blood
39	chr4:148825400-148832000	Weak transcription	Fetal Muscle Leg	muscle
40	chr4:148825400-148832400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:148825400-148834000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:148825400-148834000	Weak transcription	Osteobl	bone
43	chr4:148825400-148843400	Weak transcription	Fetal Heart	heart
44	chr4:148825400-148844200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:148825400-148846200	Weak transcription	Fetal Kidney	kidney
46	chr4:148825400-148861200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:148825400-148865800	Weak transcription	Fetal Lung	lung
48	chr4:148825800-148829400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:148826600-148888200	Weak transcription	Fetal Thymus	thymus
50	chr4:148827200-148830400	Strong transcription	HSMMtube	muscle

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