Variant report

Variant	rs236289
Chromosome Location	chr1:94122864-94122865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94119490..94122947-chr1:94126117..94129381,3	K562	blood:

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

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

rs_ID	r²[population]
rs171030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1772780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs180499	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs183539	1.00[AMR][1000 genomes]
rs236264	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236265	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs236269	1.00[AMR][1000 genomes]
rs236272	1.00[AMR][1000 genomes]
rs236276	1.00[AMR][1000 genomes]
rs236279	1.00[AMR][1000 genomes]
rs236282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236294	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs236297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236298	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs236314	1.00[AMR][1000 genomes]
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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
3	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
4	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
5	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:94107200-94125600	Weak transcription	Aorta	Aorta
9	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
10	chr1:94110200-94124400	Strong transcription	NHEK	skin
11	chr1:94110800-94127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:94110800-94128800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:94111200-94127600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:94111600-94126800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:94111800-94127400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:94112400-94125800	Strong transcription	Hela-S3	cervix
18	chr1:94112400-94127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:94113800-94124200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:94114600-94125600	Weak transcription	Brain Substantia Nigra	brain
21	chr1:94115000-94128800	Weak transcription	Left Ventricle	heart
22	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:94117400-94127400	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr1:94117400-94128800	Weak transcription	Spleen	Spleen
25	chr1:94117600-94127600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:94117600-94128200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:94118000-94125200	Weak transcription	HepG2	liver
28	chr1:94118000-94126000	Weak transcription	Stomach Mucosa	stomach
29	chr1:94118600-94125400	Weak transcription	Fetal Lung	lung
30	chr1:94119400-94124400	Weak transcription	Ovary	ovary
31	chr1:94119600-94128800	Weak transcription	Lung	lung
32	chr1:94119800-94125000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:94119800-94127200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:94119800-94128800	Weak transcription	Gastric	stomach
35	chr1:94120000-94125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:94120000-94128800	Weak transcription	Right Atrium	heart
37	chr1:94120200-94125400	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:94120400-94126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:94120400-94127400	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:94120400-94127400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:94120600-94124200	Weak transcription	Adipose Nuclei	Adipose
42	chr1:94120600-94125600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:94120600-94128800	Weak transcription	Psoas Muscle	Psoas
44	chr1:94120800-94123600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:94120800-94123600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:94120800-94125400	Weak transcription	Primary B cells from cord blood	blood
47	chr1:94120800-94125800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:94120800-94126800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:94120800-94127000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:94121000-94123600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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