Variant report

Variant	rs11083448
Chromosome Location	chr19:38672172-38672173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10401165	0.82[EUR][1000 genomes]
rs10420506	0.83[EUR][1000 genomes]
rs28495744	0.83[EUR][1000 genomes]
rs4803828	0.83[EUR][1000 genomes]
rs4803829	0.85[EUR][1000 genomes]
rs6508767	0.81[EUR][1000 genomes]
rs7245788	0.83[EUR][1000 genomes]
rs7256332	0.83[EUR][1000 genomes]
rs73627654	0.85[EUR][1000 genomes]
rs73627663	0.84[EUR][1000 genomes]
rs73627676	0.84[EUR][1000 genomes]
rs73627686	0.86[EUR][1000 genomes]
rs73930553	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11083448	SIPA1L3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38653600-38696400	Weak transcription	Small Intestine	intestine
2	chr19:38656200-38675200	Weak transcription	Stomach Mucosa	stomach
3	chr19:38656400-38674000	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:38657600-38673400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:38657600-38673800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:38657600-38696200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:38658400-38674000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr19:38658400-38684800	Weak transcription	HepG2	liver
9	chr19:38658400-38694000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:38659600-38673600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:38659600-38673600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr19:38661000-38673200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:38661200-38673600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:38661400-38682600	Weak transcription	Aorta	Aorta
15	chr19:38661600-38673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:38661600-38674000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:38661800-38682400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:38663200-38673200	Weak transcription	Gastric	stomach
19	chr19:38664400-38673200	Weak transcription	Colonic Mucosa	Colon
20	chr19:38664600-38674000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:38664600-38688600	Weak transcription	NH-A	brain
22	chr19:38664600-38699800	Weak transcription	Brain Substantia Nigra	brain
23	chr19:38664800-38673600	Weak transcription	Brain Anterior Caudate	brain
24	chr19:38664800-38674200	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:38665000-38672800	Weak transcription	HSMMtube	muscle
26	chr19:38665000-38673200	Weak transcription	Esophagus	oesophagus
27	chr19:38665000-38684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:38665200-38673200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:38665200-38674200	Weak transcription	Psoas Muscle	Psoas
30	chr19:38665200-38684200	Weak transcription	HMEC	breast
31	chr19:38666200-38682800	Weak transcription	Right Ventricle	heart
32	chr19:38666400-38672800	Weak transcription	NHLF	lung
33	chr19:38666400-38673200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr19:38666400-38673400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:38666400-38673400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr19:38666400-38673600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:38667200-38673400	Weak transcription	NHEK	skin
38	chr19:38668600-38672200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:38669400-38672200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr19:38669600-38672800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr19:38669600-38673200	Weak transcription	Lung	lung
42	chr19:38669600-38673200	Weak transcription	Spleen	Spleen
43	chr19:38669800-38673200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:38670000-38673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:38670400-38672200	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr19:38670400-38672200	ZNF genes & repeats	Fetal Stomach	stomach
47	chr19:38670800-38677400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr19:38671000-38676600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr19:38671000-38676800	Strong transcription	Primary T cells from cord blood	blood
50	chr19:38671200-38672800	Strong transcription	Pancreatic Islets	Pancreatic Islet

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