Variant report

Variant	rs568297
Chromosome Location	chr12:121221763-121221764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121219382..121222529-chr12:121225317..121227004,3	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1067742	0.80[AMR][1000 genomes]
rs10774567	0.95[ASN][1000 genomes]
rs1168956	0.81[AMR][1000 genomes]
rs1306415	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs482522	0.97[ASN][1000 genomes]
rs484456	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs487912	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488172	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs491602	0.84[AMR][1000 genomes]
rs497273	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498230	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs516649	0.86[ASN][1000 genomes]
rs516978	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520405	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs532140	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs538785	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs550349	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs551087	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs551125	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs558275	0.98[ASN][1000 genomes]
rs564120	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs566704	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566994	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs584001	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs586305	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs597203	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs610578	0.97[ASN][1000 genomes]
rs618849	0.82[AMR][1000 genomes]
rs620772	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623857	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs628771	0.84[AMR][1000 genomes]
rs631168	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs633084	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs634850	0.98[ASN][1000 genomes]
rs6489779	0.95[ASN][1000 genomes]
rs6553	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs662284	0.83[AMR][1000 genomes]
rs662739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674021	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs679833	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs680303	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs683091	0.84[AMR][1000 genomes]
rs683437	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs688402	0.84[AMR][1000 genomes]
rs694303	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs697859	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs708785	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs790675	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs791210	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs791707	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs791713	0.84[AMR][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
rs568297	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL
rs568297	SPPL3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
3	chr12:121207000-121223800	Weak transcription	Pancreas	Pancrea
4	chr12:121207200-121221800	Weak transcription	Colonic Mucosa	Colon
5	chr12:121207200-121225000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:121207200-121226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
8	chr12:121209200-121224200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:121209800-121223400	Strong transcription	Fetal Thymus	thymus
11	chr12:121211400-121260800	Weak transcription	Gastric	stomach
12	chr12:121211800-121221800	Weak transcription	Lung	lung
13	chr12:121212600-121221800	Weak transcription	Spleen	Spleen
14	chr12:121212600-121229600	Weak transcription	Right Atrium	heart
15	chr12:121212600-121229800	Weak transcription	Right Ventricle	heart
16	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
17	chr12:121212800-121228000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:121213200-121222200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:121213400-121224800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:121213600-121223000	Strong transcription	Dnd41	blood
22	chr12:121214000-121221800	Weak transcription	Psoas Muscle	Psoas
23	chr12:121215000-121222800	Strong transcription	Liver	Liver
24	chr12:121215000-121224200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:121215200-121222800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:121215600-121222800	Strong transcription	Thymus	Thymus
27	chr12:121216400-121222800	Strong transcription	Fetal Intestine Large	intestine
28	chr12:121216800-121222800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:121216800-121222800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:121217000-121222400	Strong transcription	Placenta	Placenta
31	chr12:121217000-121222800	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:121217800-121222800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:121218000-121222200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:121218000-121222200	Strong transcription	Fetal Lung	lung
35	chr12:121218000-121222600	Strong transcription	GM12878-XiMat	blood
36	chr12:121218200-121222200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:121218200-121222600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr12:121218200-121222800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:121218400-121222800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr12:121218600-121222200	Strong transcription	Fetal Brain Female	brain
41	chr12:121218600-121222600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:121218600-121222600	Strong transcription	Primary B cells from cord blood	blood
43	chr12:121218600-121222600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:121218600-121222600	Strong transcription	Brain Hippocampus Middle	brain
45	chr12:121218800-121222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:121218800-121222800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:121219000-121222400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:121219000-121222400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:121219200-121222000	Strong transcription	Brain Germinal Matrix	brain
50	chr12:121219200-121222800	Strong transcription	Rectal Mucosa Donor 29	rectum

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