Variant report

Variant	rs1045868
Chromosome Location	chr1:213168190-213168191
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212631376..212634349-chr1:213167249..213169058,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10735511	0.95[JPT][hapmap]
rs10746440	0.95[JPT][hapmap]
rs10779598	0.95[JPT][hapmap]
rs10864032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10864033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120070	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11120076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11120080	0.91[ASN][1000 genomes]
rs11120082	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11120084	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11586518	0.95[JPT][hapmap]
rs12026770	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12122955	0.80[ASN][1000 genomes]
rs1566248	0.82[ASN][1000 genomes]
rs3002284	0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3104207	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3123307	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3738806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951477	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4951478	0.82[ASN][1000 genomes]
rs4951660	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6540774	0.83[ASN][1000 genomes]
rs6540776	0.82[ASN][1000 genomes]
rs6540777	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6671019	0.83[AMR][1000 genomes]
rs6697921	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7537285	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7540350	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1045868	RPS6KC1	cis	Artery Tibial	GTEx
rs1045868	ANGEL2	cis	cerebellum	SCAN
rs1045868	C1orf97	cis	cerebellum	SCAN
rs1045868	ANGEL2	cis	multi-tissue	Pritchard
rs1045868	ANGEL2	cis	Esophagus Mucosa	GTEx
rs1045868	ANGEL2	cis	parietal	SCAN
rs1045868	LOC148696	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213151800-213169400	Weak transcription	Colonic Mucosa	Colon
2	chr1:213153400-213173000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:213153800-213168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:213153800-213170200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:213154400-213178200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:213154600-213170200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:213154800-213177400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:213154800-213178200	Weak transcription	Brain Angular Gyrus	brain
10	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
12	chr1:213155000-213168400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:213155200-213177800	Weak transcription	Right Ventricle	heart
14	chr1:213155400-213178400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:213155600-213168200	Weak transcription	Thymus	Thymus
16	chr1:213155600-213168800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:213155600-213169400	Weak transcription	Lung	lung
18	chr1:213155600-213178400	Weak transcription	Gastric	stomach
19	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
20	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
21	chr1:213155800-213168400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:213156000-213168800	Weak transcription	Right Atrium	heart
23	chr1:213156000-213176800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:213156000-213177200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:213156200-213168200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:213156200-213168600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:213156200-213187400	Weak transcription	Fetal Brain Male	brain
28	chr1:213156200-213188000	Weak transcription	Pancreas	Pancrea
29	chr1:213156400-213170000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:213156600-213170400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:213156600-213176600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:213157200-213178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:213158400-213188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:213158800-213169200	Weak transcription	Fetal Stomach	stomach
35	chr1:213160200-213188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:213160400-213173000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:213160400-213187200	Weak transcription	NHLF	lung
38	chr1:213160600-213169400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:213161000-213171600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:213161800-213169600	Weak transcription	Ovary	ovary
41	chr1:213161800-213170000	Weak transcription	HUVEC	blood vessel
42	chr1:213161800-213171600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:213162000-213168400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:213162000-213168400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:213162000-213184600	Weak transcription	Psoas Muscle	Psoas
46	chr1:213162200-213188000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr1:213162800-213181200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:213162800-213183000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr1:213163200-213168600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:213163200-213187400	Weak transcription	Stomach Mucosa	stomach

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