Variant report

Variant	rs236273
Chromosome Location	chr1:94102989-94102990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94102131..94104524-chr1:94130420..94132438,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1292929	0.84[AMR][1000 genomes]
rs1618866	0.82[ASN][1000 genomes]
rs1740068	0.82[ASN][1000 genomes]
rs1772781	0.86[ASN][1000 genomes]
rs1772782	0.86[ASN][1000 genomes]
rs182913	0.85[ASN][1000 genomes]
rs183538	0.82[ASN][1000 genomes]
rs236267	0.90[ASN][1000 genomes]
rs236270	0.88[ASN][1000 genomes]
rs236271	0.88[ASN][1000 genomes]
rs236274	0.85[ASN][1000 genomes]
rs236275	0.85[ASN][1000 genomes]
rs236277	0.90[ASN][1000 genomes]
rs236278	0.85[ASN][1000 genomes]
rs236284	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs236285	0.88[AMR][1000 genomes]
rs236287	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs236288	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs236291	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs236301	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs236306	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs236307	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs236308	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs236311	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs236312	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs236313	0.85[ASN][1000 genomes]
rs236343	0.85[AMR][1000 genomes]
rs236344	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs368888	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs399649	0.86[ASN][1000 genomes]
rs423493	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60159857	0.82[ASN][1000 genomes]
rs798213	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs798217	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs798218	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
3	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:94088600-94118800	Weak transcription	Gastric	stomach
5	chr1:94091600-94106600	Weak transcription	Aorta	Aorta
6	chr1:94091600-94107600	Weak transcription	Ovary	ovary
7	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
8	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
9	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:94097400-94108600	Strong transcription	NHEK	skin
12	chr1:94097800-94106200	Strong transcription	HMEC	breast
13	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:94098000-94103200	Weak transcription	HepG2	liver
15	chr1:94098000-94104600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:94098000-94104600	Strong transcription	Hela-S3	cervix
17	chr1:94099400-94103800	Strong transcription	A549	lung
18	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
19	chr1:94100400-94103000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:94100400-94103000	Enhancers	Brain Anterior Caudate	brain
21	chr1:94100400-94103400	Strong transcription	Osteobl	bone
22	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:94101200-94106000	Genic enhancers	Placenta	Placenta
25	chr1:94101600-94103000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:94101600-94104600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
29	chr1:94101800-94104200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:94101800-94104200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:94101800-94104200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:94101800-94105800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:94101800-94106200	Weak transcription	Left Ventricle	heart
34	chr1:94101800-94110400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:94102000-94104200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:94102000-94104200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:94102000-94104200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:94102000-94104400	Weak transcription	NHLF	lung
39	chr1:94102000-94104600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:94102000-94104600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:94102000-94104600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr1:94102000-94105400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:94102000-94105600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:94102000-94105600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:94102000-94105600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr1:94102000-94105800	Weak transcription	NHDF-Ad	bronchial
47	chr1:94102000-94107400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:94102000-94107800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:94102000-94107800	Strong transcription	HSMM	muscle
50	chr1:94102000-94108000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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