Variant report

Variant	rs6867633
Chromosome Location	chr5:146946871-146946872
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55908911	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6871766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888090	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs6867633	JAKMIP2	cis	parietal	SCAN
rs6867633	PCYOX1L	cis	parietal	SCAN
rs6867633	HTR4	cis	cerebellum	SCAN
rs6867633	KCTD16	cis	parietal	SCAN
rs6867633	POU4F3	cis	parietal	SCAN
rs6867633	SCGB3A2	cis	parietal	SCAN
rs6867633	SLC36A3	cis	cerebellum	SCAN
rs6867633	CSF1R	cis	cerebellum	SCAN
rs6867633	TNIP1	cis	parietal	SCAN
rs6867633	CAMK2A	cis	cerebellum	SCAN
rs6867633	JAKMIP2	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146940200-146952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:146942400-146947000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:146942400-146947200	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr5:146944000-146948400	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:146944200-146948200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:146944400-146947400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:146945000-146947200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:146945200-146948800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:146945600-146947200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:146945600-146947200	Weak transcription	HMEC	breast
11	chr5:146945600-146947200	Weak transcription	Osteobl	bone
12	chr5:146945600-146947400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:146945600-146947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:146945600-146957400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:146945800-146947200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:146945800-146947200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:146945800-146947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:146945800-146947200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:146945800-146947400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:146945800-146947800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:146946000-146947200	Weak transcription	NH-A	brain
22	chr5:146946200-146947400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:146946200-146947600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:146946200-146948200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:146946200-146949800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:146946400-146947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:146946600-146947800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:146946600-146948800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:146946800-146947200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:146946800-146947200	Enhancers	Fetal Muscle Trunk	muscle
31	chr5:146946800-146948600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:146946800-146948600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:146946800-146948800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:146946800-146956800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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