Variant report

Variant	rs12270765
Chromosome Location	chr11:15912669-15912670
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	chr11:15912241..15914705-chr11:15921735..15923958,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10766290	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832526	0.80[ASN][1000 genomes]
rs11023753	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11023757	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11023763	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11023766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11023768	0.84[EUR][1000 genomes]
rs11023769	0.84[EUR][1000 genomes]
rs11023770	0.81[EUR][1000 genomes]
rs11023771	0.81[EUR][1000 genomes]
rs11023772	0.81[EUR][1000 genomes]
rs12270494	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287547	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12289250	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12290232	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12364139	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12789155	0.83[EUR][1000 genomes]
rs1440705	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1440707	0.91[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1866820	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2008923	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2119376	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2218204	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2582309	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2615023	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2615024	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4756835	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4756836	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4756837	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4757370	0.91[ASN][1000 genomes]
rs4757371	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757373	0.91[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757374	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757375	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7106197	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7122245	0.83[AMR][1000 genomes]
rs7481566	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs965476	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs982988	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[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
rs12270765	DKK3	cis	cerebellum	SCAN

Chromatin state (count:36 , 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	chr11:15906600-15914400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:15907200-15914600	Weak transcription	Left Ventricle	heart
4	chr11:15907600-15914400	Weak transcription	Fetal Brain Female	brain
5	chr11:15907600-15914400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:15908200-15917800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:15910000-15912800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:15910400-15922800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:15910600-15913800	Weak transcription	Fetal Heart	heart
10	chr11:15910600-15914400	Weak transcription	Fetal Lung	lung
11	chr11:15911400-15914800	Weak transcription	Stomach Mucosa	stomach
12	chr11:15911400-15916000	Weak transcription	Spleen	Spleen
13	chr11:15911600-15914200	Weak transcription	K562	blood
14	chr11:15912000-15914000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:15912000-15914600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:15912200-15913200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:15912200-15914200	Weak transcription	Lung	lung
18	chr11:15912200-15914400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:15912200-15914600	Weak transcription	Right Atrium	heart
20	chr11:15912200-15914600	Weak transcription	HSMMtube	muscle
21	chr11:15912200-15915000	Weak transcription	Ovary	ovary
22	chr11:15912400-15913800	Weak transcription	Placenta	Placenta
23	chr11:15912400-15914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:15912400-15914400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:15912400-15914400	Weak transcription	Fetal Brain Male	brain
26	chr11:15912400-15914400	Weak transcription	Fetal Kidney	kidney
27	chr11:15912400-15914400	Weak transcription	HSMM	muscle
28	chr11:15912400-15914600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:15912400-15914600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:15912400-15914600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:15912600-15914000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:15912600-15914000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:15912600-15914000	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:15912600-15914200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:15912600-15914200	Weak transcription	Osteobl	bone
36	chr11:15912600-15914600	Weak transcription	NH-A	brain

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