Variant report

Variant	rs1498355
Chromosome Location	chr1:213344384-213344385
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213330345..213332641-chr1:213343084..213346080,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1045868	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10735511	0.86[JPT][hapmap]
rs10746440	0.86[JPT][hapmap]
rs10779599	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10864032	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10864033	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs10864037	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10864039	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11120070	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs11120076	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11120082	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11120084	0.84[AMR][1000 genomes]
rs11120100	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11120102	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11120104	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11586518	0.90[JPT][hapmap]
rs12144379	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12401550	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1498356	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2359554	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3002284	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs34691780	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34868056	0.85[AMR][1000 genomes]
rs3738806	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs3924768	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4393210	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4951477	0.81[EUR][1000 genomes]
rs4951664	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4951676	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60968477	0.84[AMR][1000 genomes]
rs6540777	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6670496	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6671019	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6697921	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7517229	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7547782	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9645358	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9728406	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1498355	ANGEL2	cis	Artery Tibial	GTEx
rs1498355	RPS6KC1	cis	Artery Tibial	GTEx
rs1498355	ANGEL2	cis	Nerve Tibial	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:213301000-213374800	Weak transcription	HSMM	muscle
4	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:213310000-213345800	Weak transcription	Lung	lung
6	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:213310400-213345800	Weak transcription	Ovary	ovary
8	chr1:213317400-213349600	Weak transcription	Left Ventricle	heart
9	chr1:213317800-213351600	Weak transcription	Fetal Kidney	kidney
10	chr1:213323000-213346000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr1:213323000-213349600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:213323200-213345400	Weak transcription	Primary B cells from cord blood	blood
13	chr1:213325200-213359600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:213325600-213353400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:213327000-213351000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:213327800-213345400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:213327800-213352800	Weak transcription	Esophagus	oesophagus
19	chr1:213328000-213358200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
21	chr1:213328400-213345800	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:213328400-213353400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:213328600-213360200	Weak transcription	K562	blood
24	chr1:213328800-213345400	Weak transcription	Primary T cells from cord blood	blood
25	chr1:213329000-213351200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:213329000-213351200	Weak transcription	Fetal Stomach	stomach
27	chr1:213329600-213345200	Weak transcription	Liver	Liver
28	chr1:213330000-213345600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:213330200-213352000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:213330600-213357200	Weak transcription	Dnd41	blood
31	chr1:213332800-213349600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:213333000-213359800	Weak transcription	Fetal Lung	lung
33	chr1:213334000-213345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:213334000-213349800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:213336000-213345400	Weak transcription	Gastric	stomach
36	chr1:213336600-213355800	Weak transcription	NH-A	brain
37	chr1:213336600-213357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr1:213336800-213361200	Weak transcription	NHDF-Ad	bronchial
39	chr1:213337000-213345400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:213337200-213349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:213337400-213359800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:213337800-213345000	Weak transcription	Osteobl	bone
43	chr1:213337800-213346400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:213337800-213349800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:213337800-213374400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:213338200-213360200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:213338400-213360200	Weak transcription	Small Intestine	intestine
48	chr1:213339800-213349800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:213340200-213359600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:213340400-213345200	Weak transcription	Brain Substantia Nigra	brain

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