Variant report

Variant	rs62392876
Chromosome Location	chr5:126190264-126190265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126188650..126191093-chr5:126200738..126202976,2	K562	blood:
2	chr5:126183182..126187392-chr5:126188791..126191287,4	K562	blood:
3	chr5:126187764..126191404-chr5:126191529..126194421,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10057327	0.89[ASN][1000 genomes]
rs1110322	0.87[ASN][1000 genomes]
rs11740069	0.89[ASN][1000 genomes]
rs12652098	0.86[ASN][1000 genomes]
rs12656316	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1973592	0.87[ASN][1000 genomes]
rs4836299	0.87[ASN][1000 genomes]
rs62392872	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6869763	0.89[ASN][1000 genomes]
rs7715302	0.89[ASN][1000 genomes]
rs7735455	0.89[ASN][1000 genomes]
rs959573	0.86[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	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3359230	chr5:126189278-126191826	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126148200-126193200	Weak transcription	Brain Angular Gyrus	brain
2	chr5:126158000-126204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:126163800-126193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126182000-126190800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:126182400-126192600	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:126182600-126193000	Weak transcription	Right Ventricle	heart
7	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:126183800-126193000	Weak transcription	Fetal Lung	lung
9	chr5:126183800-126193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:126184400-126190800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:126184400-126193000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:126184400-126193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:126184400-126193600	Weak transcription	Brain Germinal Matrix	brain
14	chr5:126184600-126193000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:126185400-126190800	Weak transcription	Stomach Mucosa	stomach
16	chr5:126187600-126192600	Weak transcription	Left Ventricle	heart
17	chr5:126187800-126192800	Weak transcription	Fetal Heart	heart
18	chr5:126188000-126193400	Weak transcription	Fetal Kidney	kidney
19	chr5:126188200-126193200	Weak transcription	Brain Anterior Caudate	brain
20	chr5:126188200-126193600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:126188200-126200800	Weak transcription	NHDF-Ad	bronchial
22	chr5:126188200-126203400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:126188400-126190800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:126188400-126190800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:126188400-126190800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:126188400-126193000	Weak transcription	Osteobl	bone
27	chr5:126188400-126193200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:126188600-126193200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:126188600-126193200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:126188600-126204400	Weak transcription	NH-A	brain
31	chr5:126188800-126190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:126188800-126191800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:126188800-126192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:126188800-126193400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:126188800-126204600	Weak transcription	NHLF	lung
36	chr5:126189000-126190800	Weak transcription	HUVEC	blood vessel
37	chr5:126189000-126192600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:126189000-126192600	Weak transcription	Adipose Nuclei	Adipose
39	chr5:126189000-126193000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:126189000-126193200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:126189000-126193200	Weak transcription	HSMMtube	muscle
42	chr5:126189000-126193600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr5:126189000-126193800	Weak transcription	Lung	lung
44	chr5:126189200-126190400	Active TSS	Primary T cells from cord blood	blood
45	chr5:126189200-126191000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr5:126189400-126190400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:126189400-126190800	Weak transcription	Dnd41	blood
48	chr5:126189400-126193200	Weak transcription	Fetal Brain Male	brain
49	chr5:126189400-126193200	Weak transcription	Fetal Brain Female	brain
50	chr5:126189400-126202600	Weak transcription	Right Atrium	heart

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