Variant report

Variant	rs73782555
Chromosome Location	chr5:124315399-124315400
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	chr5:124314982..124317852-chr5:124324896..124327856,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10519791	0.87[AMR][1000 genomes]
rs17152190	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1823087	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55763065	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887807	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73782535	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73782537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73782542	0.92[AFR][1000 genomes];1.00[AMR][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	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830474	chr5:124263628-124431299	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv599657	chr5:124284253-124330522	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124311200-124316400	Weak transcription	Pancreas	Pancrea
2	chr5:124312400-124316200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:124313000-124317200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:124313200-124315400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:124314400-124315600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:124314400-124316400	Enhancers	Fetal Stomach	stomach
7	chr5:124314400-124316600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr5:124314400-124316600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr5:124314400-124317000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:124314400-124317200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:124314400-124317400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:124314400-124317400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:124314400-124317600	Enhancers	Fetal Brain Male	brain
14	chr5:124314400-124317600	Enhancers	Fetal Lung	lung
15	chr5:124314400-124318400	Enhancers	Stomach Mucosa	stomach
16	chr5:124314400-124318600	Enhancers	Fetal Intestine Small	intestine
17	chr5:124314600-124315400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:124314600-124315400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:124314600-124316000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:124314600-124316000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:124314600-124316400	Enhancers	Brain Germinal Matrix	brain
22	chr5:124314600-124317000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:124314600-124317200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:124314600-124317200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:124314600-124318000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:124314600-124318400	Enhancers	Primary B cells from peripheral blood	blood
27	chr5:124314600-124318400	Enhancers	Fetal Intestine Large	intestine
28	chr5:124314800-124317200	Enhancers	Brain Anterior Caudate	brain
29	chr5:124314800-124317200	Enhancers	Brain Hippocampus Middle	brain
30	chr5:124314800-124317400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:124314800-124317400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:124314800-124318000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:124314800-124318400	Enhancers	Dnd41	blood
34	chr5:124315000-124315400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:124315000-124315600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:124315000-124316800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:124315000-124318400	Enhancers	Primary B cells from cord blood	blood
38	chr5:124315000-124319000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr5:124315200-124315600	Enhancers	Fetal Brain Female	brain
40	chr5:124315200-124316000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:124315200-124316200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr5:124315200-124316200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:124315200-124316200	Weak transcription	HMEC	breast
44	chr5:124315200-124316400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:124315200-124316600	Weak transcription	Fetal Kidney	kidney
46	chr5:124315200-124317000	Enhancers	Brain Cingulate Gyrus	brain
47	chr5:124315200-124317200	Enhancers	Brain Substantia Nigra	brain
48	chr5:124315200-124317200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:124315200-124317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:124315200-124317400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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