Variant report

Variant	rs12289250
Chromosome Location	chr11:15908121-15908122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:15906179..15908578-chr11:15915178..15917306,2	K562	blood:
2	chr11:15906546..15908430-chr11:15913226..15915549,2	K562	blood:
3	chr11:15893121..15894660-chr11:15906120..15908174,2	K562	blood:
4	chr11:15898897..15901498-chr11:15907712..15909523,2	K562	blood:
5	chr11:15906360..15909550-chr11:15909837..15912358,3	K562	blood:
6	chr11:15906688..15908663-chr11:15909864..15911546,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10766289	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10766290	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10832526	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11023742	0.84[AFR][1000 genomes]
rs11023753	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11023757	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11023763	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11023766	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12270494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12270765	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12280342	0.85[AFR][1000 genomes]
rs12287547	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290232	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12364139	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1440705	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1440707	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866820	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002372	0.80[EUR][1000 genomes]
rs2008923	0.83[AMR][1000 genomes]
rs2119376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2218204	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2615023	0.83[AMR][1000 genomes]
rs2615024	0.83[AMR][1000 genomes]
rs4756833	0.85[AFR][1000 genomes]
rs4756835	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756836	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756837	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4757370	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4757371	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757373	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757374	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757375	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106197	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7481566	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs965476	0.83[AMR][1000 genomes]
rs982988	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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	nsv832073	chr11:15822409-15984078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12289250	DKK3	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15893600-15914000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:15898400-15908200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:15904800-15908200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:15905400-15908800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:15906000-15910400	Weak transcription	Fetal Kidney	kidney
6	chr11:15906400-15908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:15906600-15914400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:15906800-15908400	Enhancers	K562	blood
9	chr11:15906800-15909600	Weak transcription	Ovary	ovary
10	chr11:15906800-15910000	Weak transcription	Fetal Heart	heart
11	chr11:15906800-15910400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:15906800-15911200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:15906800-15911400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:15906800-15911600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:15907000-15909400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:15907000-15911000	Enhancers	Placenta	Placenta
17	chr11:15907200-15910000	Weak transcription	Fetal Intestine Small	intestine
18	chr11:15907200-15914600	Weak transcription	Left Ventricle	heart
19	chr11:15907400-15910000	Weak transcription	Fetal Intestine Large	intestine
20	chr11:15907600-15909000	Enhancers	Osteobl	bone
21	chr11:15907600-15909800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:15907600-15910000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:15907600-15910000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:15907600-15910400	Weak transcription	Right Atrium	heart
25	chr11:15907600-15914400	Weak transcription	Fetal Brain Female	brain
26	chr11:15907600-15914400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:15907800-15908800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:15907800-15908800	Enhancers	NH-A	brain
29	chr11:15907800-15911800	Weak transcription	Fetal Brain Male	brain
30	chr11:15908000-15908800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:15908000-15911000	Weak transcription	Brain Germinal Matrix	brain

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