Variant report

Variant	rs2949645
Chromosome Location	chr4:107289664-107289665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11938792	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2691805	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2949626	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2949646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2949647	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018059	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3018060	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018061	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3018062	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018063	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3018064	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3018065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3109959	0.82[AMR][1000 genomes];0.86[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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1008963	chr4:107282656-107384924	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107270800-107290600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:107287200-107290600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:107287400-107290600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:107287400-107290800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr4:107287600-107290600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:107287800-107290400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:107287800-107290400	Weak transcription	HUVEC	blood vessel
8	chr4:107287800-107290600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:107287800-107290600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:107287800-107290600	Weak transcription	Osteobl	bone
11	chr4:107287800-107290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:107288400-107290400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:107288400-107290600	Weak transcription	HSMM	muscle
14	chr4:107288600-107290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:107288600-107290800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:107288800-107290400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:107288800-107290600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:107289600-107290000	Enhancers	NHDF-Ad	bronchial
19	chr4:107289600-107290200	Enhancers	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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