Variant report

Variant	rs6693291
Chromosome Location	chr1:213338794-213338795
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10127851	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10465694	0.81[EUR][1000 genomes]
rs10864034	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10864036	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10864038	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1391549	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1391550	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1498357	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1566247	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17020338	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1976333	0.82[EUR][1000 genomes]
rs1995151	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2173398	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2494767	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2647387	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2817976	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2817978	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2817981	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2841425	0.97[ASN][1000 genomes]
rs2841427	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2841439	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4655386	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4951476	0.82[EUR][1000 genomes]
rs4951479	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4951677	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6419469	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6419470	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6540778	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6540780	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6540781	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6540782	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6657234	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6658259	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6666814	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6671872	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6691488	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6692056	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6692144	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6699158	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6700169	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7517229	0.83[EUR][1000 genomes]
rs7535369	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7547274	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7547782	0.82[EUR][1000 genomes]
rs9308430	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9429901	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9429902	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9430118	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9430120	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9430121	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9430122	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9430123	0.94[AMR][1000 genomes];0.85[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
rs6693291	ANGEL2	cis	Esophagus Mucosa	GTEx
rs6693291	RPS6KC1	cis	Artery Tibial	GTEx
rs6693291	ANGEL2	cis	Nerve Tibial	GTEx

Chromatin state (count:61 , 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	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
9	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:213312200-213343600	Weak transcription	HepG2	liver
11	chr1:213316000-213340000	Weak transcription	Psoas Muscle	Psoas
12	chr1:213317400-213349600	Weak transcription	Left Ventricle	heart
13	chr1:213317800-213351600	Weak transcription	Fetal Kidney	kidney
14	chr1:213323000-213346000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr1:213323000-213349600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:213323200-213345400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:213325200-213359600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:213325600-213353400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:213327000-213351000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:213327800-213345400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:213327800-213352800	Weak transcription	Esophagus	oesophagus
23	chr1:213328000-213339400	Weak transcription	Stomach Mucosa	stomach
24	chr1:213328000-213358200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
26	chr1:213328400-213345800	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:213328400-213353400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:213328600-213340000	Weak transcription	Pancreas	Pancrea
29	chr1:213328600-213360200	Weak transcription	K562	blood
30	chr1:213328800-213345400	Weak transcription	Primary T cells from cord blood	blood
31	chr1:213329000-213351200	Weak transcription	Fetal Intestine Small	intestine
32	chr1:213329000-213351200	Weak transcription	Fetal Stomach	stomach
33	chr1:213329600-213345200	Weak transcription	Liver	Liver
34	chr1:213330000-213345600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:213330200-213352000	Weak transcription	Fetal Intestine Large	intestine
36	chr1:213330600-213357200	Weak transcription	Dnd41	blood
37	chr1:213331800-213340000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr1:213331800-213340200	Weak transcription	Brain Angular Gyrus	brain
39	chr1:213331800-213341000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr1:213332800-213349600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:213333000-213340200	Weak transcription	Adipose Nuclei	Adipose
42	chr1:213333000-213359800	Weak transcription	Fetal Lung	lung
43	chr1:213334000-213345800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:213334000-213349800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:213334600-213342200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:213336000-213345400	Weak transcription	Gastric	stomach
47	chr1:213336600-213338800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:213336600-213355800	Weak transcription	NH-A	brain
49	chr1:213336600-213357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:213336800-213361200	Weak transcription	NHDF-Ad	bronchial

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