Variant report

Variant	rs281995
Chromosome Location	chr1:91782652-91782653
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1579703	1.00[AFR][1000 genomes]
rs166855	1.00[AFR][1000 genomes]
rs166856	1.00[AFR][1000 genomes]
rs169473	1.00[AFR][1000 genomes]
rs176019	1.00[AFR][1000 genomes]
rs1837543	1.00[AFR][1000 genomes]
rs183988	1.00[AFR][1000 genomes]
rs188153	1.00[AFR][1000 genomes]
rs188154	1.00[AFR][1000 genomes]
rs281936	1.00[AFR][1000 genomes]
rs281938	1.00[AFR][1000 genomes]
rs281940	1.00[AFR][1000 genomes]
rs281941	1.00[AFR][1000 genomes]
rs281944	0.83[AFR][1000 genomes]
rs281945	1.00[AFR][1000 genomes]
rs281946	1.00[AFR][1000 genomes]
rs281947	1.00[AFR][1000 genomes]
rs281949	1.00[AFR][1000 genomes]
rs281951	1.00[AFR][1000 genomes]
rs281952	1.00[AFR][1000 genomes]
rs281954	1.00[AFR][1000 genomes]
rs281960	1.00[AFR][1000 genomes]
rs281961	1.00[AFR][1000 genomes]
rs281962	1.00[AFR][1000 genomes]
rs281963	1.00[AFR][1000 genomes]
rs281964	1.00[AFR][1000 genomes]
rs281965	1.00[AFR][1000 genomes]
rs281967	1.00[AFR][1000 genomes]
rs281969	1.00[AFR][1000 genomes]
rs281970	1.00[AFR][1000 genomes]
rs281971	1.00[AFR][1000 genomes]
rs281972	1.00[AFR][1000 genomes]
rs281974	1.00[AFR][1000 genomes]
rs281975	1.00[AFR][1000 genomes]
rs281976	1.00[AFR][1000 genomes]
rs281980	1.00[AFR][1000 genomes]
rs281981	1.00[AFR][1000 genomes]
rs281982	1.00[AFR][1000 genomes]
rs281983	1.00[AFR][1000 genomes]
rs281987	1.00[AFR][1000 genomes]
rs281989	1.00[AFR][1000 genomes]
rs281991	1.00[AFR][1000 genomes]
rs281993	1.00[AFR][1000 genomes]
rs281994	1.00[AFR][1000 genomes]
rs281999	1.00[AFR][1000 genomes]
rs282002	1.00[AFR][1000 genomes]
rs282006	1.00[AFR][1000 genomes]
rs282009	1.00[AFR][1000 genomes]
rs282015	1.00[AFR][1000 genomes]
rs282016	1.00[AFR][1000 genomes]
rs282018	1.00[AFR][1000 genomes]
rs282019	1.00[AFR][1000 genomes]
rs282022	1.00[AFR][1000 genomes]
rs282024	1.00[AFR][1000 genomes]
rs282025	1.00[AFR][1000 genomes]
rs282026	1.00[AFR][1000 genomes]
rs282027	1.00[AFR][1000 genomes]
rs282028	1.00[AFR][1000 genomes]
rs282029	1.00[AFR][1000 genomes]
rs282030	1.00[AFR][1000 genomes]
rs282031	1.00[AFR][1000 genomes]
rs282033	1.00[AFR][1000 genomes]
rs282035	1.00[AFR][1000 genomes]
rs282036	1.00[AFR][1000 genomes]
rs282037	1.00[AFR][1000 genomes]
rs282039	1.00[AFR][1000 genomes]
rs282040	1.00[AFR][1000 genomes]
rs282041	1.00[AFR][1000 genomes]
rs282051	1.00[AFR][1000 genomes]
rs282052	1.00[AFR][1000 genomes]
rs282055	1.00[AFR][1000 genomes]
rs282059	1.00[AFR][1000 genomes]
rs282060	1.00[AFR][1000 genomes]
rs282061	1.00[AFR][1000 genomes]
rs282062	1.00[AFR][1000 genomes]
rs282063	1.00[AFR][1000 genomes]
rs376322	1.00[AFR][1000 genomes]
rs399362	1.00[AFR][1000 genomes]
rs400641	1.00[AFR][1000 genomes]
rs417209	1.00[AFR][1000 genomes]
rs430649	1.00[AFR][1000 genomes]
rs450030	1.00[AFR][1000 genomes]
rs452780	0.83[AFR][1000 genomes]
rs552684	1.00[AFR][1000 genomes]
rs555432	1.00[AFR][1000 genomes]
rs583048	1.00[AFR][1000 genomes]
rs585898	1.00[AFR][1000 genomes]
rs601625	1.00[AFR][1000 genomes]
rs614125	1.00[AFR][1000 genomes]
rs648463	0.83[AFR][1000 genomes]
rs658399	1.00[AFR][1000 genomes]
rs684293	1.00[AFR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91772800-91793800	Weak transcription	Left Ventricle	heart
2	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
3	chr1:91774800-91794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:91775000-91793800	Weak transcription	Pancreas	Pancrea
5	chr1:91775200-91794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:91776600-91793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:91777600-91790600	Weak transcription	Fetal Brain Female	brain
8	chr1:91777600-91790600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:91777600-91790800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:91777600-91794000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:91777800-91794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:91778000-91790600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:91778000-91790600	Weak transcription	Fetal Lung	lung
14	chr1:91778000-91793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:91778000-91794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:91778000-91794000	Weak transcription	Fetal Intestine Small	intestine
17	chr1:91778600-91790400	Weak transcription	Fetal Stomach	stomach
18	chr1:91778600-91793800	Weak transcription	Ovary	ovary
19	chr1:91779000-91784400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:91779000-91793800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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