Variant report

Variant	rs4948823
Chromosome Location	chr10:44541676-44541677
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10508880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154827	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17154915	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154988	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155030	0.85[ASN][1000 genomes]
rs4948813	0.98[EUR][1000 genomes]
rs56803324	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58563011	0.90[AMR][1000 genomes]
rs7088907	0.85[ASN][1000 genomes]
rs7096716	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7898618	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7923238	1.00[ASN][1000 genomes]
rs950682	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4948823	SPINT2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44538000-44542000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:44538000-44542200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:44538200-44547000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:44539000-44543200	Enhancers	Fetal Muscle Leg	muscle
5	chr10:44539000-44543800	Enhancers	Fetal Stomach	stomach
6	chr10:44539200-44542000	Enhancers	Stomach Smooth Muscle	stomach
7	chr10:44539200-44543200	Enhancers	Ovary	ovary
8	chr10:44539400-44542200	Enhancers	Fetal Muscle Trunk	muscle
9	chr10:44539400-44546800	Weak transcription	Right Ventricle	heart
10	chr10:44539600-44542600	Enhancers	NHDF-Ad	bronchial
11	chr10:44539600-44543200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:44539800-44542200	Enhancers	HSMMtube	muscle
13	chr10:44539800-44543400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:44540200-44542000	Weak transcription	Right Atrium	heart
15	chr10:44540200-44542800	Enhancers	Colon Smooth Muscle	Colon
16	chr10:44540400-44541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:44540400-44542000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:44540400-44542400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:44540400-44542800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:44540400-44543000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:44540600-44542800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:44540600-44543600	Enhancers	Fetal Kidney	kidney
23	chr10:44540800-44541800	Weak transcription	Adipose Nuclei	Adipose
24	chr10:44540800-44541800	Enhancers	Brain Substantia Nigra	brain
25	chr10:44540800-44542000	Enhancers	Brain Hippocampus Middle	brain
26	chr10:44540800-44542000	Weak transcription	Fetal Brain Female	brain
27	chr10:44540800-44542600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:44540800-44542600	Enhancers	Brain Cingulate Gyrus	brain
29	chr10:44540800-44543400	Enhancers	Rectal Smooth Muscle	rectum
30	chr10:44540800-44544800	Weak transcription	Lung	lung
31	chr10:44541000-44542600	Enhancers	Osteobl	bone
32	chr10:44541000-44543200	Enhancers	Brain Anterior Caudate	brain
33	chr10:44541200-44542000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:44541200-44542600	Enhancers	Brain Angular Gyrus	brain
35	chr10:44541200-44549800	Weak transcription	Left Ventricle	heart
36	chr10:44541400-44541800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr10:44541400-44542400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:44541400-44543000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr10:44541400-44543200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:44541400-44543200	Enhancers	Pancreas	Pancrea
41	chr10:44541600-44542000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:44541600-44542000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:44541600-44542000	Enhancers	Fetal Lung	lung
44	chr10:44541600-44542000	Bivalent Enhancer	NH-A	brain
45	chr10:44541600-44542200	Enhancers	Fetal Brain Male	brain
46	chr10:44541600-44542400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr10:44541600-44542600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr10:44541600-44542800	Enhancers	NHEK	skin
49	chr10:44541600-44543200	Enhancers	Spleen	Spleen
50	chr10:44541600-44543400	Enhancers	Stomach Mucosa	stomach

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