Variant report

Variant	rs10888949
Chromosome Location	chr1:56453397-56453398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11206709	0.96[AFR][1000 genomes]
rs11206711	0.81[AFR][1000 genomes]
rs11206730	0.84[ASN][1000 genomes]
rs11206737	0.82[ASN][1000 genomes]
rs12029607	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074486	0.93[AFR][1000 genomes]
rs7515479	0.95[AFR][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	nsv870513	chr1:56407227-56493106	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1003385	chr1:56430742-56468732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56451400-56455400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:56451400-56456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:56451400-56456200	Enhancers	Adipose Nuclei	Adipose
4	chr1:56451400-56457800	Enhancers	Fetal Lung	lung
5	chr1:56451800-56456400	Weak transcription	Placenta	Placenta
6	chr1:56452200-56454000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:56452400-56453400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:56452400-56453400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:56452600-56454400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:56452800-56453400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:56452800-56453800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:56452800-56453800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:56452800-56454000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:56452800-56457200	Enhancers	Ovary	ovary
15	chr1:56453000-56453600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:56453200-56453400	Enhancers	Colon Smooth Muscle	Colon
17	chr1:56453200-56453400	Enhancers	Osteobl	bone
18	chr1:56453200-56453600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:56453200-56453600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:56453200-56453600	Enhancers	Fetal Muscle Leg	muscle
21	chr1:56453200-56453600	Enhancers	Psoas Muscle	Psoas
22	chr1:56453200-56453600	Enhancers	Right Atrium	heart
23	chr1:56453200-56453600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:56453200-56453800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:56453200-56453800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:56453200-56453800	Enhancers	A549	lung
27	chr1:56453200-56453800	Enhancers	NHDF-Ad	bronchial
28	chr1:56453200-56454000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:56453200-56454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:56453200-56455400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:56453200-56455400	Enhancers	Fetal Stomach	stomach

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