Variant report

Variant	rs2223307
Chromosome Location	chr1:186844926-186844927
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10737272	0.86[ASN][1000 genomes]
rs10911946	0.84[CHD][hapmap]
rs17526478	0.87[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs7416329	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186840400-186849200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:186841000-186853600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:186841000-186853800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:186841200-186846400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:186841600-186850200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr1:186841800-186846600	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:186841800-186850000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:186841800-186862400	Weak transcription	Hela-S3	cervix
10	chr1:186842600-186845200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:186843000-186846000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:186843000-186847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:186843200-186845000	Weak transcription	NHDF-Ad	bronchial
14	chr1:186843400-186845400	Weak transcription	Fetal Brain Male	brain
15	chr1:186843400-186846000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:186843400-186849200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:186843400-186853800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:186843600-186845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:186844200-186845200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:186844200-186851600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:186844400-186850200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:186844800-186845000	Enhancers	Colon Smooth Muscle	Colon
23	chr1:186844800-186845200	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:186844800-186845400	Enhancers	HMEC	breast
25	chr1:186844800-186846000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:186844800-186846200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:186844800-186846600	Enhancers	Adipose Nuclei	Adipose
28	chr1:186844800-186847000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:186844800-186848000	Enhancers	NHEK	skin

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