Variant report

Variant	rs9991768
Chromosome Location	chr4:55198973-55198974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10002044	0.90[AFR][1000 genomes]
rs10005774	0.91[AFR][1000 genomes]
rs10017002	0.90[AFR][1000 genomes]
rs10018609	0.90[AFR][1000 genomes]
rs28564344	1.00[AFR][1000 genomes]
rs28567502	1.00[AFR][1000 genomes]
rs28642895	0.90[AFR][1000 genomes]
rs28672881	0.90[AFR][1000 genomes]
rs9990703	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv4341	chr4:55172085-55217655	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55197800-55200000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:55197800-55200200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:55198200-55199000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:55198200-55199200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:55198200-55199800	Enhancers	Brain Angular Gyrus	brain
6	chr4:55198200-55199800	Enhancers	Brain Substantia Nigra	brain
7	chr4:55198200-55200200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:55198200-55200800	Enhancers	Brain Hippocampus Middle	brain
9	chr4:55198400-55199200	Enhancers	Brain Germinal Matrix	brain
10	chr4:55198400-55199800	Enhancers	Brain Anterior Caudate	brain
11	chr4:55198400-55200000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:55198800-55199000	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:55198800-55199200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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