Variant report

Variant	rs421505
Chromosome Location	chr19:44496145-44496146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs370809	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs381091	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs381628	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs381759	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs381888	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs381983	1.00[CEU][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs382255	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs391267	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs392889	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs393195	1.00[CEU][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs393536	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs395803	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs396116	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs396148	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs396497	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs396786	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs397683	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs402785	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs405763	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs414402	1.00[CEU][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs415521	0.81[ASW][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap]
rs419839	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs420355	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs420584	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs431166	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.99[ASN][1000 genomes]
rs431509	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs436739	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs436790	1.00[CEU][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs448692	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs421505	RRAS	cis	cerebellum	SCAN
rs421505	FOXA3	cis	cerebellum	SCAN
rs421505	BCAT2	cis	cerebellum	SCAN
rs421505	OPA3	cis	parietal	SCAN
rs421505	KLK10	cis	parietal	SCAN
rs421505	SPIB	cis	parietal	SCAN
rs421505	KPTN	cis	parietal	SCAN
rs421505	ZNF175	cis	cerebellum	SCAN
rs421505	KLK15	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44489200-44500400	Weak transcription	HUVEC	blood vessel
3	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
5	chr19:44489400-44496600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44489600-44496200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:44489600-44506200	Weak transcription	HepG2	liver
8	chr19:44491000-44500200	Strong transcription	Fetal Lung	lung
9	chr19:44491000-44501600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
12	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:44491600-44500000	Strong transcription	Primary T cells from cord blood	blood
14	chr19:44491600-44501800	Strong transcription	Brain Hippocampus Middle	brain
15	chr19:44491800-44502200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:44492000-44502000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44492200-44499600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:44492200-44500200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr19:44492200-44500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr19:44492200-44501400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:44492400-44497400	Strong transcription	Rectal Smooth Muscle	rectum
22	chr19:44492400-44499200	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr19:44492400-44501000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:44492400-44501400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:44492400-44501400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:44492400-44501800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr19:44492400-44501800	Strong transcription	Brain Cingulate Gyrus	brain
28	chr19:44492400-44502000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:44492400-44502200	Strong transcription	Fetal Intestine Large	intestine
30	chr19:44492400-44502200	Strong transcription	HSMM	muscle
31	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:44492600-44496200	Strong transcription	Psoas Muscle	Psoas
35	chr19:44492600-44496400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:44492600-44496800	Strong transcription	Brain Germinal Matrix	brain
37	chr19:44492600-44497400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:44492600-44498600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:44492600-44499600	Strong transcription	Left Ventricle	heart
40	chr19:44492600-44500200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:44492600-44500200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr19:44492600-44500200	Strong transcription	Fetal Muscle Leg	muscle
43	chr19:44492600-44500400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:44492600-44501200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:44492600-44501600	Strong transcription	Thymus	Thymus
46	chr19:44492600-44502000	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:44492600-44502200	Strong transcription	Dnd41	blood
48	chr19:44492600-44502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:44492600-44502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr19:44492600-44502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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