Variant report

Variant	rs236271
Chromosome Location	chr1:94104741-94104742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12568405	0.87[ASN][1000 genomes]
rs1618866	0.89[ASN][1000 genomes]
rs1740068	0.89[ASN][1000 genomes]
rs1772781	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1772782	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs182913	0.93[ASN][1000 genomes]
rs183538	0.89[ASN][1000 genomes]
rs236267	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236270	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs236273	0.88[ASN][1000 genomes]
rs236274	0.93[ASN][1000 genomes]
rs236275	0.93[ASN][1000 genomes]
rs236277	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236278	0.93[ASN][1000 genomes]
rs236281	0.86[ASN][1000 genomes]
rs236292	0.85[EUR][1000 genomes]
rs236312	0.91[ASN][1000 genomes]
rs236313	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs368888	0.85[ASN][1000 genomes]
rs3767981	0.87[ASN][1000 genomes]
rs3767987	0.87[ASN][1000 genomes]
rs399649	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs423493	0.83[ASN][1000 genomes]
rs60159857	0.89[ASN][1000 genomes]
rs798213	0.85[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:86 , 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	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
15	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:94101200-94106000	Genic enhancers	Placenta	Placenta
18	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
20	chr1:94101800-94105800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:94101800-94106200	Weak transcription	Left Ventricle	heart
22	chr1:94101800-94110400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:94102000-94105400	Weak transcription	Adipose Nuclei	Adipose
24	chr1:94102000-94105600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:94102000-94105600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:94102000-94105600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:94102000-94105800	Weak transcription	NHDF-Ad	bronchial
28	chr1:94102000-94107400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94102000-94107800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:94102000-94107800	Strong transcription	HSMM	muscle
31	chr1:94102000-94108000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:94102000-94108000	Weak transcription	Spleen	Spleen
33	chr1:94102000-94108600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:94102000-94108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:94102000-94117200	Weak transcription	Lung	lung
36	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
37	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
38	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:94102400-94106800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:94102400-94107200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:94102600-94104800	Weak transcription	Right Atrium	heart
42	chr1:94102600-94107400	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr1:94102600-94114200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
45	chr1:94102800-94108200	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:94102800-94119000	Weak transcription	Brain Angular Gyrus	brain
47	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:94103400-94105600	Weak transcription	Osteobl	bone
49	chr1:94103800-94104800	Enhancers	Stomach Mucosa	stomach
50	chr1:94103800-94105000	Enhancers	HUES64 Cell Line	embryonic stem cell

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