Variant report

Variant	rs618849
Chromosome Location	chr12:121308055-121308056
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1067742	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10774577	0.85[EUR][1000 genomes]
rs1105416	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065286	0.80[ASN][1000 genomes]
rs1151850	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1151851	0.85[ASN][1000 genomes]
rs1151852	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1151861	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151863	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151864	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1168945	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168954	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1168956	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1696361	0.84[EUR][1000 genomes]
rs1696363	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1718209	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1718211	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1732395	0.85[EUR][1000 genomes]
rs1732396	0.85[EUR][1000 genomes]
rs1732398	0.85[EUR][1000 genomes]
rs1732405	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2454729	0.85[EUR][1000 genomes]
rs2649994	0.83[EUR][1000 genomes]
rs2649996	0.83[EUR][1000 genomes]
rs2649998	0.85[EUR][1000 genomes]
rs2650006	0.86[EUR][1000 genomes]
rs2701174	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2701178	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2701181	0.85[EUR][1000 genomes]
rs2701182	0.85[EUR][1000 genomes]
rs487310	0.83[ASN][1000 genomes]
rs487912	0.82[AMR][1000 genomes]
rs491602	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs493811	0.83[ASN][1000 genomes]
rs497273	0.82[AMR][1000 genomes]
rs498230	0.81[ASN][1000 genomes]
rs516978	0.82[AMR][1000 genomes]
rs520405	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs532703	0.83[ASN][1000 genomes]
rs538785	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs564120	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs566704	0.82[AMR][1000 genomes]
rs566994	0.82[AMR][1000 genomes]
rs568297	0.82[AMR][1000 genomes]
rs589466	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs594507	0.83[ASN][1000 genomes]
rs597203	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs619679	0.95[ASN][1000 genomes]
rs620772	0.82[AMR][1000 genomes]
rs623857	0.81[AMR][1000 genomes]
rs628771	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs631168	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656933	0.97[ASN][1000 genomes]
rs662284	0.81[ASN][1000 genomes]
rs662739	0.82[AMR][1000 genomes]
rs674021	0.81[ASN][1000 genomes]
rs680303	0.82[ASN][1000 genomes]
rs683091	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs688402	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs694303	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7300722	0.85[EUR][1000 genomes]
rs791707	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791713	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs618849	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL
rs618849	SPPL3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
2	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
3	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:121288000-121316600	Weak transcription	NHLF	lung
5	chr12:121288200-121339600	Weak transcription	Hela-S3	cervix
6	chr12:121291600-121312400	Weak transcription	Gastric	stomach
7	chr12:121292000-121312400	Weak transcription	Aorta	Aorta
8	chr12:121293000-121308200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:121294200-121340400	Weak transcription	HSMM	muscle
10	chr12:121294600-121310200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:121295000-121310200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:121295000-121310200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:121295000-121311000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:121295000-121316200	Weak transcription	HMEC	breast
15	chr12:121296200-121311000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:121296600-121310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:121296800-121309800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr12:121297200-121309200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:121297200-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:121297400-121311800	Weak transcription	Dnd41	blood
21	chr12:121297400-121339800	Weak transcription	A549	lung
22	chr12:121297600-121315200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:121298400-121313600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr12:121300600-121310000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:121300600-121310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:121300600-121310200	Weak transcription	Psoas Muscle	Psoas
27	chr12:121300600-121310400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr12:121300600-121312400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:121300600-121328800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:121300800-121309400	Weak transcription	Brain Hippocampus Middle	brain
31	chr12:121302000-121328800	Weak transcription	Fetal Intestine Large	intestine
32	chr12:121303200-121310200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:121303200-121310200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:121303200-121310200	Weak transcription	Right Atrium	heart
35	chr12:121303400-121308200	Weak transcription	Brain Substantia Nigra	brain
36	chr12:121303400-121309600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121303400-121312400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:121303600-121309200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:121303600-121309800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:121303600-121310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:121303600-121311000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:121303600-121312400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:121303600-121312400	Weak transcription	Pancreas	Pancrea
44	chr12:121303800-121308200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:121303800-121310000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:121303800-121310000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:121303800-121310200	Weak transcription	Spleen	Spleen
48	chr12:121303800-121312400	Weak transcription	Lung	lung
49	chr12:121304200-121308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:121304200-121308600	Weak transcription	Left Ventricle	heart

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