Variant report

Variant	rs2008923
Chromosome Location	chr11:15915779-15915780
allele	A/G
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	chr11:15914710..15917174-chr11:15920611..15923591,2	K562	blood:
3	chr11:15910536..15912312-chr11:15915422..15917800,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10766290	0.83[AMR][1000 genomes]
rs10832528	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11023753	0.83[AMR][1000 genomes]
rs11023754	0.92[CEU][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs11023756	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11023757	0.81[AMR][1000 genomes]
rs11023763	0.83[AMR][1000 genomes]
rs11023766	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12270494	0.83[AMR][1000 genomes]
rs12270765	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12287547	0.92[AMR][1000 genomes]
rs12289250	0.83[AMR][1000 genomes]
rs12290232	0.81[AMR][1000 genomes]
rs12364139	0.87[MEX][hapmap];0.83[AMR][1000 genomes]
rs1440702	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1440705	0.82[AMR][1000 genomes]
rs1440707	0.87[MEX][hapmap];0.87[AMR][1000 genomes]
rs1866819	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1866820	0.84[AMR][1000 genomes]
rs2119376	0.83[AMR][1000 genomes]
rs2196961	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2218204	0.84[AMR][1000 genomes]
rs2582309	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756835	0.83[AMR][1000 genomes]
rs4756837	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4756839	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4757371	0.83[AMR][1000 genomes]
rs4757373	0.83[AMR][1000 genomes]
rs4757374	0.88[AMR][1000 genomes]
rs4757375	0.83[AMR][1000 genomes]
rs4757377	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7106197	0.92[AMR][1000 genomes]
rs7122245	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732908	0.87[EUR][1000 genomes]
rs7481566	0.84[AMR][1000 genomes]
rs965476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs982988	0.84[AMR][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
rs2008923	DKK3	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:15908200-15917800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:15910400-15922800	Weak transcription	Fetal Intestine Small	intestine
3	chr11:15911400-15916000	Weak transcription	Spleen	Spleen
4	chr11:15913800-15915800	Enhancers	Primary hematopoietic stem cells	blood
5	chr11:15913800-15916000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:15913800-15916000	Enhancers	Fetal Heart	heart
7	chr11:15913800-15916600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:15914000-15915800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:15914000-15916200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:15914000-15916200	Enhancers	Fetal Stomach	stomach
11	chr11:15914000-15916400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:15914000-15916400	Enhancers	Stomach Smooth Muscle	stomach
13	chr11:15914200-15915800	Enhancers	K562	blood
14	chr11:15914200-15915800	Enhancers	Osteobl	bone
15	chr11:15914200-15916000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:15914200-15916000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:15914400-15915800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:15914400-15915800	Enhancers	Fetal Kidney	kidney
19	chr11:15914400-15916000	Enhancers	Fetal Lung	lung
20	chr11:15914400-15916000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr11:15914600-15915800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:15914600-15915800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:15914600-15915800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:15914600-15916000	Enhancers	HSMMtube	muscle
25	chr11:15914800-15916000	Enhancers	Lung	lung
26	chr11:15914800-15916000	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:15914800-15917600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:15914800-15922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:15915000-15915800	Enhancers	Psoas Muscle	Psoas
30	chr11:15915000-15916000	Enhancers	Ovary	ovary
31	chr11:15915000-15916400	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:15915000-15923200	Weak transcription	Pancreas	Pancrea
33	chr11:15915000-15929200	Weak transcription	Esophagus	oesophagus
34	chr11:15915200-15917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:15915200-15918800	Weak transcription	NH-A	brain
36	chr11:15915200-15919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:15915200-15919000	Weak transcription	HMEC	breast
38	chr11:15915200-15922800	Weak transcription	Left Ventricle	heart
39	chr11:15915200-15923000	Weak transcription	Gastric	stomach
40	chr11:15915200-15923000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:15915200-15924800	Weak transcription	NHEK	skin
42	chr11:15915400-15915800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:15915400-15918200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr11:15915400-15923000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:15915400-15923600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:15915600-15916800	Weak transcription	Fetal Brain Male	brain
47	chr11:15915600-15918800	Weak transcription	Hela-S3	cervix

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