Variant report

Variant	rs56938600
Chromosome Location	chr5:80612484-80612485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80607330..80608887-chr5:80610841..80612586,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10041138	0.85[ASN][1000 genomes]
rs10052929	0.82[ASN][1000 genomes]
rs12514420	0.89[ASN][1000 genomes]
rs1566433	0.85[ASN][1000 genomes]
rs2406557	0.89[ASN][1000 genomes]
rs4502795	0.85[ASN][1000 genomes]
rs57266451	0.85[ASN][1000 genomes]
rs6863732	0.84[ASN][1000 genomes]
rs6868743	0.86[ASN][1000 genomes]
rs6889795	0.85[ASN][1000 genomes]
rs6896441	0.86[ASN][1000 genomes]
rs6896890	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7731117	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955948	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80607000-80612800	Weak transcription	Fetal Intestine Small	intestine
2	chr5:80607200-80612800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:80608600-80612600	Weak transcription	Fetal Intestine Large	intestine
4	chr5:80608600-80615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:80608600-80623000	Weak transcription	Psoas Muscle	Psoas
6	chr5:80609800-80612800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:80609800-80613000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:80609800-80613400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:80609800-80613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:80610000-80614600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:80610000-80618000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:80610400-80613000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:80610600-80613000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:80610600-80621800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:80610800-80612800	Weak transcription	Adipose Nuclei	Adipose
16	chr5:80610800-80613000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:80610800-80613000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr5:80610800-80613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:80611000-80612600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:80611000-80612800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:80611200-80612800	Weak transcription	Fetal Stomach	stomach
22	chr5:80611200-80612800	Weak transcription	Fetal Thymus	thymus
23	chr5:80611200-80612800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:80611200-80613000	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:80611200-80616000	Weak transcription	Liver	Liver
26	chr5:80611400-80613000	Weak transcription	Primary B cells from cord blood	blood
27	chr5:80611400-80613200	Weak transcription	Left Ventricle	heart
28	chr5:80611400-80614400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:80611600-80613200	Weak transcription	Primary T cells from cord blood	blood
30	chr5:80611600-80623600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:80611800-80619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:80612200-80623600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:80612400-80612600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:80612400-80612800	Enhancers	GM12878-XiMat	blood
35	chr5:80612400-80613000	Enhancers	HSMMtube	muscle

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