Variant report

Variant	rs2223306
Chromosome Location	chr1:186841110-186841111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10752982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1980445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:186825400-186843600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:186835400-186843000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:186835400-186843000	Weak transcription	Osteobl	bone
5	chr1:186835600-186844800	Weak transcription	NHEK	skin
6	chr1:186835800-186842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:186839000-186841600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:186839000-186841800	Strong transcription	Hela-S3	cervix
9	chr1:186839200-186843000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:186839200-186843400	Enhancers	Brain Germinal Matrix	brain
11	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:186839400-186842600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:186839400-186844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:186839600-186841600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:186840000-186841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:186840000-186842200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:186840400-186843800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:186840400-186849200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:186840600-186841200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:186840600-186841600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:186840600-186841800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:186840600-186841800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:186840600-186841800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr1:186840600-186841800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:186840600-186843400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:186840600-186843400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:186840600-186843800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:186840800-186841600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:186840800-186841600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr1:186840800-186841600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:186840800-186842400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:186840800-186842400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:186841000-186841200	Enhancers	Colon Smooth Muscle	Colon
34	chr1:186841000-186841200	Enhancers	Fetal Brain Male	brain
35	chr1:186841000-186841800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:186841000-186841800	Enhancers	Brain Substantia Nigra	brain
37	chr1:186841000-186853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:186841000-186853800	Weak transcription	Primary hematopoietic stem cells	blood

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