Variant report

Variant	rs1151852
Chromosome Location	chr12:121340068-121340069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121338472..121340356-chr12:121340571..121343275,2	MCF-7	breast:
2	chr12:121331922..121335800-chr12:121336708..121340188,4	K562	blood:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1067742	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10774577	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849818	0.81[ASN][1000 genomes]
rs1105416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151851	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1151861	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151863	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1151864	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1168945	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168954	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1168956	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1696361	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1696363	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1718209	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1718211	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1732395	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1732396	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1732398	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1732405	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2454729	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2649994	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2649995	0.86[EUR][1000 genomes]
rs2649996	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2649998	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2650006	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701174	0.93[ASN][1000 genomes]
rs2701178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2701181	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2701182	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs491602	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs520405	0.82[EUR][1000 genomes]
rs538785	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs564120	0.82[EUR][1000 genomes]
rs597203	0.82[EUR][1000 genomes]
rs618849	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs619679	0.85[ASN][1000 genomes]
rs628771	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs631168	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs656933	0.87[ASN][1000 genomes]
rs683091	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs688402	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs694303	0.83[EUR][1000 genomes]
rs7300722	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs791707	0.82[EUR][1000 genomes]
rs791713	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv975642	chr12:121330910-121340230	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1151852	SPPL3	cis	Adipose Subcutaneous	GTEx
rs1151852	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121294200-121340400	Weak transcription	HSMM	muscle
2	chr12:121318200-121340400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:121323600-121340600	Weak transcription	Aorta	Aorta
4	chr12:121324000-121340400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:121326600-121340200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:121329000-121340200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:121329000-121340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:121330200-121340200	Weak transcription	HUVEC	blood vessel
9	chr12:121331400-121340200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr12:121332000-121340600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:121332400-121340600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121332800-121340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:121333200-121340400	Weak transcription	Gastric	stomach
14	chr12:121334800-121340200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:121335800-121340400	Weak transcription	NH-A	brain
16	chr12:121336800-121340200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:121338000-121340600	Enhancers	Small Intestine	intestine
18	chr12:121338200-121340400	Weak transcription	Placenta	Placenta
19	chr12:121338200-121340600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:121338400-121340200	Weak transcription	Colonic Mucosa	Colon
21	chr12:121338400-121340400	Weak transcription	Esophagus	oesophagus
22	chr12:121338400-121340400	Weak transcription	Lung	lung
23	chr12:121338400-121340600	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:121338600-121340400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr12:121338600-121340400	Weak transcription	Thymus	Thymus
26	chr12:121338800-121340200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr12:121338800-121340600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:121339000-121340200	Enhancers	Primary B cells from cord blood	blood
29	chr12:121339000-121340200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:121339200-121340200	Enhancers	Fetal Intestine Small	intestine
31	chr12:121339200-121340200	Weak transcription	Fetal Stomach	stomach
32	chr12:121339400-121340200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:121339400-121340400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:121339400-121340600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:121339400-121340600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:121339400-121340600	Flanking Active TSS	GM12878-XiMat	blood
37	chr12:121339400-121341200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:121339600-121340200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:121339600-121340200	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr12:121339600-121340200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121339600-121340200	Enhancers	Fetal Heart	heart
42	chr12:121339600-121340200	Enhancers	Fetal Thymus	thymus
43	chr12:121339600-121340200	Enhancers	K562	blood
44	chr12:121339600-121340400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:121339600-121340400	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr12:121339600-121340400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:121339600-121340400	Enhancers	Brain Angular Gyrus	brain
48	chr12:121339600-121340400	Enhancers	Brain Substantia Nigra	brain
49	chr12:121339600-121340400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr12:121339600-121340400	Enhancers	Right Ventricle	heart

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