Variant report

Variant	rs58417851
Chromosome Location	chr1:212298049-212298050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212291193..212294935-chr1:212295149..212298411,5	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56232484	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58353849	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540716	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:212277000-212298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:212280000-212299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:212283800-212300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:212284000-212298400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212284400-212300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:212285000-212303200	Weak transcription	Fetal Stomach	stomach
10	chr1:212285400-212299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
12	chr1:212285800-212298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:212286600-212298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:212287400-212320600	Weak transcription	A549	lung
15	chr1:212287600-212298200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:212287800-212298200	Weak transcription	Fetal Thymus	thymus
17	chr1:212292600-212314600	Weak transcription	Thymus	Thymus
18	chr1:212292800-212298400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:212293000-212298200	Weak transcription	Esophagus	oesophagus
20	chr1:212293000-212300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:212293200-212298200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:212293200-212298400	Weak transcription	Left Ventricle	heart
23	chr1:212293200-212299600	Weak transcription	Spleen	Spleen
24	chr1:212293200-212313200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:212293400-212298600	Weak transcription	Fetal Heart	heart
26	chr1:212293600-212298200	Weak transcription	Gastric	stomach
27	chr1:212295400-212298200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:212295400-212303800	Weak transcription	K562	blood
29	chr1:212295600-212298400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:212295800-212298200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:212295800-212298400	Weak transcription	Fetal Intestine Large	intestine
32	chr1:212296200-212298200	Weak transcription	Dnd41	blood
33	chr1:212297800-212298400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:212297800-212299000	Enhancers	Stomach Mucosa	stomach
35	chr1:212297800-212299400	Enhancers	Primary B cells from cord blood	blood
36	chr1:212297800-212299800	Enhancers	Duodenum Mucosa	Duodenum
37	chr1:212298000-212302400	Enhancers	Primary neutrophils fromperipheralblood	blood

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