Variant report

Variant	rs236279
Chromosome Location	chr1:94100486-94100487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs171030	1.00[AMR][1000 genomes]
rs1772780	1.00[AMR][1000 genomes]
rs180499	1.00[AMR][1000 genomes]
rs183539	1.00[AMR][1000 genomes]
rs236264	1.00[AMR][1000 genomes]
rs236269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236282	1.00[AMR][1000 genomes]
rs236286	1.00[AMR][1000 genomes]
rs236289	1.00[AMR][1000 genomes]
rs236290	1.00[AMR][1000 genomes]
rs236294	1.00[AMR][1000 genomes]
rs236297	1.00[AMR][1000 genomes]
rs236298	1.00[AMR][1000 genomes]
rs236299	1.00[AMR][1000 genomes]
rs236314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236315	0.82[YRI][hapmap]
rs236324	1.00[AMR][1000 genomes]
rs236325	1.00[AMR][1000 genomes]
rs236337	1.00[AMR][1000 genomes]
rs236338	1.00[AMR][1000 genomes]
rs236340	1.00[AMR][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:70 , 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	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:94084200-94101000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:94085400-94107600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:94086800-94101200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:94088600-94118800	Weak transcription	Gastric	stomach
8	chr1:94090400-94101400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:94090600-94101400	Weak transcription	Right Ventricle	heart
10	chr1:94091600-94101000	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:94091600-94101400	Weak transcription	Brain Angular Gyrus	brain
12	chr1:94091600-94106600	Weak transcription	Aorta	Aorta
13	chr1:94091600-94107600	Weak transcription	Ovary	ovary
14	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
15	chr1:94092200-94101000	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:94093200-94100600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:94094000-94101200	Weak transcription	Left Ventricle	heart
18	chr1:94094200-94101200	Weak transcription	Lung	lung
19	chr1:94094200-94101200	Weak transcription	Right Atrium	heart
20	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
21	chr1:94095000-94101600	Weak transcription	HSMMtube	muscle
22	chr1:94095400-94101200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:94095600-94100600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:94095600-94100600	Weak transcription	NHLF	lung
25	chr1:94095600-94101200	Weak transcription	HUVEC	blood vessel
26	chr1:94095600-94101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:94096200-94100600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:94096800-94101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:94096800-94101400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:94096800-94101600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:94097400-94108600	Strong transcription	NHEK	skin
34	chr1:94097600-94100600	Weak transcription	Placenta	Placenta
35	chr1:94097600-94101000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:94097600-94101600	Strong transcription	HSMM	muscle
37	chr1:94097800-94101000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:94097800-94101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:94097800-94101400	Weak transcription	Spleen	Spleen
40	chr1:94097800-94101600	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:94097800-94106200	Strong transcription	HMEC	breast
42	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:94098000-94101000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:94098000-94101200	Weak transcription	NHDF-Ad	bronchial
45	chr1:94098000-94103200	Weak transcription	HepG2	liver
46	chr1:94098000-94104600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:94098000-94104600	Strong transcription	Hela-S3	cervix
48	chr1:94098800-94100600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:94099000-94101200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:94099400-94103800	Strong transcription	A549	lung

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