Variant report

Variant	rs4799650
Chromosome Location	chr18:30128454-30128455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12150800	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963525	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16963530	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963537	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28601283	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330989	1.00[EUR][1000 genomes]
rs4799649	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941784	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941789	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72941793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9964350	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909524	chr18:30115418-30196804	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv909525	chr18:30115418-30215056	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv909526	chr18:30124311-30259109	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1066906	chr18:30125366-30192567	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv543676	chr18:30125366-30192567	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30122600-30133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:30127400-30128600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:30127800-30128600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr18:30127800-30128800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:30128000-30130200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:30128200-30129000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:30128200-30129200	Enhancers	Fetal Intestine Small	intestine
8	chr18:30128200-30129800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:30128200-30130000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr18:30128400-30128600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr18:30128400-30128600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:30128400-30129000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:30128400-30129000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:30128400-30129200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr18:30128400-30129200	Enhancers	Fetal Intestine Large	intestine
16	chr18:30128400-30129400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr18:30128400-30129800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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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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