Variant report

Variant	rs2033597
Chromosome Location	chr1:213549960-213549961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10746441	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120115	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120116	0.88[ASN][1000 genomes]
rs11120117	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120119	0.86[EUR][1000 genomes]
rs11120120	0.81[EUR][1000 genomes]
rs1187783	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1187784	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1211362	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033595	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359700	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655360	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6694226	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3397999	chr1:213546329-213550627	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2033597	PROX1	cis	cerebellum	SCAN
rs2033597	CENPF	cis	parietal	SCAN
rs2033597	SLC17A4	trans	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213542200-213554000	Weak transcription	Brain Germinal Matrix	brain
2	chr1:213543200-213555000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:213543400-213554600	Weak transcription	Pancreas	Pancrea
4	chr1:213545600-213550000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:213545600-213550000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:213545800-213550000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:213545800-213550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:213545800-213550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:213545800-213550200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:213546000-213550000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:213546000-213550200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:213546200-213550000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:213546200-213550200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:213546200-213550200	Enhancers	HepG2	liver
15	chr1:213546600-213550000	Weak transcription	Fetal Intestine Small	intestine
16	chr1:213546600-213550600	Weak transcription	Liver	Liver
17	chr1:213548400-213550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:213548600-213550200	Weak transcription	Fetal Kidney	kidney
19	chr1:213548600-213554600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:213549800-213550800	Enhancers	Fetal Heart	heart
21	chr1:213549800-213551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:213549800-213551200	Enhancers	Fetal Intestine Large	intestine

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