Variant report

Variant	rs12151188
Chromosome Location	chr19:39455534-39455535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10411199	0.88[EUR][1000 genomes]
rs10416467	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10853722	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12052182	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12980086	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12982957	0.89[ASN][1000 genomes]
rs7245863	0.84[AMR][1000 genomes]
rs7249668	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7254599	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9749516	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv2762038	chr19:39444417-39455548	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12151188	SARS2	cis	lymphoblastoid	seeQTL
rs12151188	MEGF8	cis	parietal	SCAN
rs12151188	PLD3	cis	parietal	SCAN
rs12151188	CLPTM1	cis	parietal	SCAN
rs12151188	SARS2	cis	multi-tissue	Pritchard
rs12151188	LGALS14	cis	parietal	SCAN
rs12151188	ZNF285	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39441000-39459200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:39441200-39455800	Weak transcription	Psoas Muscle	Psoas
3	chr19:39441200-39459400	Weak transcription	Fetal Lung	lung
4	chr19:39441200-39465200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:39441200-39465200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:39441200-39465200	Weak transcription	NHLF	lung
7	chr19:39441200-39465400	Weak transcription	Right Atrium	heart
8	chr19:39441400-39462000	Weak transcription	Small Intestine	intestine
9	chr19:39441400-39465000	Weak transcription	HUVEC	blood vessel
10	chr19:39449800-39459000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:39450000-39465400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:39453200-39457000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:39453200-39457000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:39453200-39458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:39453200-39458200	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:39453200-39459000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:39453200-39459200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr19:39453200-39459400	Weak transcription	NHDF-Ad	bronchial
19	chr19:39453200-39465000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:39453200-39465000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:39453200-39465000	Weak transcription	K562	blood
22	chr19:39453200-39465200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr19:39453200-39465200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:39453200-39465200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:39453200-39465200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:39453200-39465800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:39453200-39465800	Weak transcription	Pancreas	Pancrea
28	chr19:39453400-39455600	Strong transcription	A549	lung
29	chr19:39453400-39456000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:39453400-39457000	Weak transcription	Liver	Liver
31	chr19:39453400-39458200	Weak transcription	Fetal Kidney	kidney
32	chr19:39453400-39458200	Weak transcription	Ovary	ovary
33	chr19:39453400-39458400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:39453400-39459200	Strong transcription	Fetal Intestine Small	intestine
35	chr19:39453400-39459400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:39453400-39460600	Weak transcription	Adipose Nuclei	Adipose
37	chr19:39453400-39461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:39453400-39464400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr19:39453400-39464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:39453400-39464800	Weak transcription	Fetal Brain Male	brain
41	chr19:39453400-39464800	Weak transcription	Osteobl	bone
42	chr19:39453400-39465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr19:39453400-39465000	Weak transcription	HMEC	breast
44	chr19:39453400-39465200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr19:39453400-39465200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:39453400-39465200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:39453400-39465200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:39453400-39465200	Weak transcription	Aorta	Aorta
49	chr19:39453400-39465200	Weak transcription	Brain Angular Gyrus	brain
50	chr19:39453400-39465200	Weak transcription	HSMM	muscle

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