Variant report

Variant	rs35491159
Chromosome Location	chr1:223101939-223101940
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34386738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34885545	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396959	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35488981	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35851670	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61840881	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223092400-223116200	Weak transcription	Primary B cells from cord blood	blood
2	chr1:223099800-223102000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:223100200-223116200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:223100400-223104400	Weak transcription	HSMMtube	muscle
5	chr1:223100600-223102200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:223100800-223102000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:223101000-223102200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:223101400-223102000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:223101400-223102000	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr1:223101400-223102000	Flanking Active TSS	Fetal Lung	lung
11	chr1:223101400-223102000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr1:223101400-223102000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr1:223101400-223102000	Enhancers	HUVEC	blood vessel
14	chr1:223101400-223102200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:223101400-223102200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:223101400-223102200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:223101400-223102200	Enhancers	Fetal Brain Male	brain
18	chr1:223101400-223102200	Enhancers	Fetal Heart	heart
19	chr1:223101400-223102200	Flanking Active TSS	NHEK	skin
20	chr1:223101400-223102400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr1:223101400-223102600	Active TSS	Ovary	ovary
22	chr1:223101600-223102000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:223101600-223102000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:223101600-223102000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:223101600-223102000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:223101600-223102000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:223101600-223102000	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:223101600-223102000	Active TSS	Brain Hippocampus Middle	brain
29	chr1:223101600-223102000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:223101600-223102000	Active TSS	Brain Substantia Nigra	brain
31	chr1:223101600-223102000	Enhancers	Gastric	stomach
32	chr1:223101600-223102000	Flanking Active TSS	Psoas Muscle	Psoas
33	chr1:223101600-223102000	Flanking Active TSS	HepG2	liver
34	chr1:223101600-223102000	Enhancers	NH-A	brain
35	chr1:223101600-223102000	Flanking Active TSS	NHDF-Ad	bronchial
36	chr1:223101600-223102000	Flanking Active TSS	NHLF	lung
37	chr1:223101600-223102200	Flanking Active TSS	Fetal Kidney	kidney
38	chr1:223101600-223102200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:223101600-223102200	Active TSS	Stomach Mucosa	stomach
40	chr1:223101600-223102400	Active TSS	Brain Anterior Caudate	brain
41	chr1:223101600-223102400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:223101800-223102000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:223101800-223102000	Active TSS	Esophagus	oesophagus
44	chr1:223101800-223102000	Active TSS	Left Ventricle	heart
45	chr1:223101800-223102000	Enhancers	Osteobl	bone
46	chr1:223101800-223102200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:223101800-223102200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:223101800-223102200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:223101800-223102200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:223101800-223102200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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