Variant report

Variant	rs34044693
Chromosome Location	chr1:223083499-223083500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17163555	0.84[ASN][1000 genomes]
rs17163562	0.86[ASN][1000 genomes]
rs17163572	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999989	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2889941	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35947998	0.86[ASN][1000 genomes]
rs36062949	0.84[ASN][1000 genomes]
rs4307575	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223067800-223089400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:223071600-223089600	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:223071600-223092400	Weak transcription	Ovary	ovary
4	chr1:223071800-223089800	Weak transcription	Fetal Lung	lung
5	chr1:223078200-223090600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:223082600-223084200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr1:223082600-223084400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:223082600-223084400	Enhancers	Hela-S3	cervix
9	chr1:223082600-223086200	Enhancers	NHDF-Ad	bronchial
10	chr1:223082600-223086400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:223082600-223086800	Enhancers	Osteobl	bone
12	chr1:223082800-223083600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:223082800-223083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:223082800-223083600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:223082800-223083600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:223082800-223083600	Enhancers	Lung	lung
17	chr1:223082800-223084200	Enhancers	Colon Smooth Muscle	Colon
18	chr1:223082800-223084400	Enhancers	HSMMtube	muscle
19	chr1:223082800-223084800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:223082800-223084800	Enhancers	NH-A	brain
21	chr1:223082800-223085200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:223082800-223086200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:223082800-223086600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:223083000-223083600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:223083000-223083600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:223083000-223083600	Strong transcription	Fetal Stomach	stomach
27	chr1:223083000-223084400	Enhancers	HSMM	muscle
28	chr1:223083000-223084400	Enhancers	NHEK	skin
29	chr1:223083000-223085800	Enhancers	Stomach Mucosa	stomach
30	chr1:223083000-223087000	Enhancers	NHLF	lung
31	chr1:223083200-223083800	Enhancers	Left Ventricle	heart
32	chr1:223083200-223084200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:223083200-223090200	Weak transcription	Esophagus	oesophagus
34	chr1:223083200-223090400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:223083200-223101400	Weak transcription	Fetal Heart	heart
36	chr1:223083400-223083800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:223083400-223084200	Weak transcription	Aorta	Aorta
38	chr1:223083400-223084600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:223083400-223089600	Weak transcription	Psoas Muscle	Psoas
40	chr1:223083400-223089600	Weak transcription	Right Atrium	heart
41	chr1:223083400-223090400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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