Variant report

Variant	rs1048209
Chromosome Location	chr1:223185184-223185185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2255147	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2609351	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2609352	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2609353	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2609355	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789912	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789948	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2789949	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2789951	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2971990	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	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
5	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
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223169000-223187600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:223175200-223189800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:223177200-223189800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:223178800-223186800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:223178800-223189600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:223178800-223191400	Weak transcription	Right Atrium	heart
7	chr1:223178800-223194600	Weak transcription	Gastric	stomach
8	chr1:223179000-223189800	Weak transcription	Right Ventricle	heart
9	chr1:223179000-223190200	Weak transcription	Adipose Nuclei	Adipose
10	chr1:223179200-223189800	Weak transcription	Lung	lung
11	chr1:223179200-223195400	Weak transcription	Spleen	Spleen
12	chr1:223180600-223185600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:223180800-223186200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:223181000-223189600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:223181800-223186000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:223182600-223185200	Enhancers	Brain Germinal Matrix	brain
17	chr1:223182800-223185800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:223183600-223185200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:223183600-223185200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:223183800-223185200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:223184200-223185200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr1:223184200-223185200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:223184200-223185200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:223184400-223185200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:223184600-223185200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:223184600-223185200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:223184600-223185600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:223184800-223185200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:223184800-223185200	Enhancers	Brain Anterior Caudate	brain
30	chr1:223184800-223185200	Flanking Active TSS	HSMMtube	muscle
31	chr1:223184800-223186200	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:223184800-223186200	Weak transcription	Left Ventricle	heart
33	chr1:223184800-223204800	Weak transcription	Stomach Mucosa	stomach
34	chr1:223185000-223185200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:223185000-223185200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:223185000-223185200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:223185000-223185200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:223185000-223185200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:223185000-223185200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:223185000-223185200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:223185000-223185200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:223185000-223185200	Enhancers	Liver	Liver
43	chr1:223185000-223185200	Enhancers	HepG2	liver
44	chr1:223185000-223185200	Enhancers	NHDF-Ad	bronchial
45	chr1:223185000-223185200	Bivalent Enhancer	Osteobl	bone
46	chr1:223185000-223185400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:223185000-223185400	Enhancers	HSMM	muscle
48	chr1:223185000-223185600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:223185000-223186400	Weak transcription	Fetal Stomach	stomach
50	chr1:223185000-223186800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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