Variant report

Variant	rs2989594
Chromosome Location	chr13:30111750-30111751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30107535..30109992-chr13:30110581..30113126,3	K562	blood:
2	chr13:30111583..30114649-chr13:30115841..30119376,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1018679	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1018680	0.86[YRI][hapmap]
rs1018682	1.00[ASN][1000 genomes]
rs12428026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1411928	0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs166828	0.81[CHB][hapmap]
rs1877463	0.81[CHB][hapmap]
rs2026322	0.83[EUR][1000 genomes]
rs2150688	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs2150690	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs2150693	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2183717	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236499	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[EUR][1000 genomes]
rs2277451	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2776957	0.81[ASN][1000 genomes]
rs2776959	0.95[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2776963	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2802248	0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs2802249	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs280922	0.81[CHB][hapmap]
rs280923	0.85[CHB][hapmap]
rs280930	0.81[CHB][hapmap]
rs280933	0.81[CHB][hapmap]
rs280934	0.81[CHB][hapmap]
rs280936	0.81[CHB][hapmap]
rs3011605	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3783257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs3783260	1.00[CHB][hapmap]
rs3783261	0.97[EUR][1000 genomes]
rs3783262	1.00[CHB][hapmap]
rs3783263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs3825536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs476506	0.81[CHB][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap]
rs579451	0.81[CHB][hapmap]
rs617892	0.81[CHB][hapmap]
rs6490409	1.00[CHB][hapmap]
rs72623486	0.88[EUR][1000 genomes]
rs7997827	0.81[CHB][hapmap]
rs883055	1.00[TSI][hapmap]
rs914362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9550481	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9550482	0.90[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9551696	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[EUR][1000 genomes];0.90[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	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2989594	C13orf36	trans	brain	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30071000-30128800	Strong transcription	Dnd41	blood
2	chr13:30084200-30112600	Strong transcription	NHEK	skin
3	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:30085800-30115400	Strong transcription	Primary T cells from cord blood	blood
6	chr13:30092200-30133000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:30095200-30112800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:30095400-30114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:30095800-30113200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:30096000-30112600	Weak transcription	Psoas Muscle	Psoas
11	chr13:30096600-30112200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:30096800-30112200	Weak transcription	Liver	Liver
13	chr13:30097200-30138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:30098000-30117200	Weak transcription	Small Intestine	intestine
15	chr13:30098800-30129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr13:30099000-30114200	Weak transcription	Fetal Heart	heart
17	chr13:30100400-30112000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:30100800-30111800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:30102800-30113400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:30103800-30111800	Weak transcription	Fetal Intestine Large	intestine
21	chr13:30103800-30112000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:30103800-30112000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:30103800-30112400	Weak transcription	Brain Anterior Caudate	brain
24	chr13:30103800-30122200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:30103800-30137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:30104200-30113000	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:30104200-30135400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr13:30104800-30124600	Weak transcription	Right Ventricle	heart
29	chr13:30105000-30120000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr13:30105000-30120200	Weak transcription	Brain Substantia Nigra	brain
31	chr13:30105200-30136800	Weak transcription	Brain Germinal Matrix	brain
32	chr13:30106600-30125400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:30107000-30112200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:30107000-30123200	Weak transcription	K562	blood
35	chr13:30107200-30111800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr13:30107200-30112000	Weak transcription	Colon Smooth Muscle	Colon
37	chr13:30107200-30120600	Weak transcription	Fetal Thymus	thymus
38	chr13:30107200-30122200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:30107200-30123200	Weak transcription	A549	lung
40	chr13:30107200-30124200	Weak transcription	Placenta	Placenta
41	chr13:30107400-30111800	Weak transcription	Adipose Nuclei	Adipose
42	chr13:30107400-30112000	Weak transcription	Colonic Mucosa	Colon
43	chr13:30107400-30112200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr13:30107400-30112400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:30107400-30114800	Weak transcription	Left Ventricle	heart
46	chr13:30107400-30115000	Weak transcription	Aorta	Aorta
47	chr13:30107400-30122600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:30107400-30129200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr13:30107800-30112000	Weak transcription	Esophagus	oesophagus
50	chr13:30107800-30112000	Weak transcription	Stomach Smooth Muscle	stomach

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