Variant report

Variant	rs62305883
Chromosome Location	chr4:101963570-101963571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1358312	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1358313	0.83[ASN][1000 genomes]
rs17124	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037773	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28488364	0.91[ASN][1000 genomes]
rs34422081	0.91[ASN][1000 genomes]
rs41498549	0.91[ASN][1000 genomes]
rs55792312	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58457068	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58656951	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62305884	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305885	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305886	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305887	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850799	0.83[ASN][1000 genomes]
rs6851231	0.83[ASN][1000 genomes]
rs72929311	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840	0.91[ASN][1000 genomes]
rs952506	0.91[AMR][1000 genomes];0.84[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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv511238	chr4:101960095-101965295	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
3	esv1837646	chr4:101960259-101965295	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101936200-101967800	Weak transcription	Fetal Kidney	kidney
2	chr4:101941200-101971000	Weak transcription	Psoas Muscle	Psoas
3	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:101942000-101970200	Weak transcription	Brain Hippocampus Middle	brain
6	chr4:101942400-101971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:101942600-101966800	Weak transcription	Gastric	stomach
8	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:101943200-101967400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:101943200-101967400	Weak transcription	Spleen	Spleen
12	chr4:101943400-101964200	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:101943400-101967200	Weak transcription	Fetal Brain Male	brain
14	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
15	chr4:101944000-101964600	Weak transcription	NHLF	lung
16	chr4:101944400-101968400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:101944400-101981200	Weak transcription	Pancreas	Pancrea
18	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
19	chr4:101945600-101970800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:101945800-101970800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:101950200-101967000	Weak transcription	Stomach Mucosa	stomach
23	chr4:101950200-101971400	Weak transcription	Brain Angular Gyrus	brain
24	chr4:101950400-101964000	Weak transcription	HSMMtube	muscle
25	chr4:101950400-101965800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:101950400-101971400	Weak transcription	Brain Anterior Caudate	brain
27	chr4:101951800-101967200	Weak transcription	Right Ventricle	heart
28	chr4:101953600-101966000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:101953600-101970200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:101953600-101972000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr4:101953600-101983800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr4:101953600-101992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
34	chr4:101954000-101965800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:101954200-101972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:101955400-101966000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:101955400-101966000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:101957200-101966400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:101958400-101981200	Weak transcription	Aorta	Aorta
40	chr4:101958800-101966000	Weak transcription	Ovary	ovary
41	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:101959400-101963800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:101959400-101965800	Weak transcription	Primary T cells from cord blood	blood
44	chr4:101959400-101966000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:101959400-101967400	Weak transcription	Hela-S3	cervix
46	chr4:101959400-101981400	Weak transcription	HMEC	breast
47	chr4:101959600-101964000	Weak transcription	Fetal Heart	heart
48	chr4:101959600-101971400	Weak transcription	Left Ventricle	heart
49	chr4:101959600-101984400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:101959600-101986800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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