Variant report

Variant	rs17820365
Chromosome Location	chr15:57804919-57804920
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10518922	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs11632868	1.00[ASN][1000 genomes]
rs1280370	1.00[ASN][1000 genomes]
rs1280380	1.00[ASN][1000 genomes]
rs12898542	1.00[ASN][1000 genomes]
rs1290243	1.00[ASN][1000 genomes]
rs1511949	1.00[ASN][1000 genomes]
rs17239707	1.00[ASN][1000 genomes]
rs1908188	1.00[ASW][hapmap];1.00[ASN][1000 genomes]
rs2201346	1.00[ASN][1000 genomes]
rs2934444	1.00[ASN][1000 genomes]
rs2942033	1.00[ASN][1000 genomes]
rs4774951	0.81[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57799543	1.00[ASN][1000 genomes]
rs62000313	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739761	1.00[ASN][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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv833022	chr15:57657412-57830112	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv904255	chr15:57790436-57907574	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17820365	DMXL2	cis	cerebellum	SCAN
rs17820365	WDR72	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57790000-57808600	Weak transcription	Fetal Brain Male	brain
2	chr15:57794200-57808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:57797000-57814000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:57797000-57827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:57798000-57805200	Enhancers	Fetal Heart	heart
6	chr15:57798400-57809400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:57798600-57808600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:57799000-57809000	Weak transcription	HepG2	liver
9	chr15:57801600-57808800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:57801800-57808400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:57801800-57808800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:57801800-57808800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:57801800-57809000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:57801800-57819000	Weak transcription	Esophagus	oesophagus
15	chr15:57802000-57807400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:57802000-57808600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:57802000-57808800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:57802000-57810600	Weak transcription	Fetal Brain Female	brain
19	chr15:57802000-57819600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:57802200-57805800	Enhancers	Stomach Mucosa	stomach
21	chr15:57802600-57807400	Weak transcription	Liver	Liver
22	chr15:57802600-57808800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:57802600-57846600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr15:57802800-57808600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:57802800-57809000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:57802800-57822600	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:57803000-57805000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:57803000-57809200	Weak transcription	Fetal Kidney	kidney
29	chr15:57803000-57818800	Weak transcription	Fetal Intestine Large	intestine
30	chr15:57803200-57808400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:57803200-57808600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:57803200-57808600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:57803200-57808600	Weak transcription	Placenta	Placenta
34	chr15:57803200-57808600	Weak transcription	Fetal Stomach	stomach
35	chr15:57803200-57808800	Weak transcription	Fetal Intestine Small	intestine
36	chr15:57803200-57808800	Weak transcription	Lung	lung
37	chr15:57803200-57809200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr15:57803200-57819400	Weak transcription	Ovary	ovary
39	chr15:57803200-57842800	Weak transcription	Aorta	Aorta
40	chr15:57803600-57808600	Weak transcription	Fetal Lung	lung
41	chr15:57804000-57810800	Weak transcription	HUVEC	blood vessel
42	chr15:57804200-57805400	Enhancers	Pancreas	Pancrea
43	chr15:57804400-57807000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:57804600-57807000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:57804800-57805000	Enhancers	Gastric	stomach
46	chr15:57804800-57805000	Enhancers	Sigmoid Colon	Sigmoid Colon

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