Variant report

Variant	rs1727318
Chromosome Location	chr12:123621210-123621211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123616804..123619547-chr12:123619557..123621511,2	K562	blood:
2	chr12:123576872..123579106-chr12:123620146..123621821,2	K562	blood:
3	chr12:123342305..123344242-chr12:123620491..123622482,2	K562	blood:
4	chr12:123620536..123623518-chr12:123623679..123625622,5	K562	blood:
5	chr12:123618954..123623520-chr12:123624080..123628885,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1047158	0.94[EUR][1000 genomes]
rs1051431	0.93[EUR][1000 genomes]
rs10744147	0.88[EUR][1000 genomes]
rs10772993	0.90[EUR][1000 genomes]
rs10772995	0.87[EUR][1000 genomes]
rs10846478	0.87[EUR][1000 genomes]
rs10846486	0.88[EUR][1000 genomes]
rs11057192	0.88[EUR][1000 genomes]
rs1106240	0.92[EUR][1000 genomes]
rs1106241	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1260294	0.81[EUR][1000 genomes]
rs1402274	0.90[EUR][1000 genomes]
rs1569068	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1615694	0.87[EUR][1000 genomes]
rs1616131	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1616181	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1617156	0.85[EUR][1000 genomes]
rs1617434	0.91[EUR][1000 genomes]
rs1618679	0.90[EUR][1000 genomes]
rs1621194	0.93[EUR][1000 genomes]
rs1626899	0.86[EUR][1000 genomes]
rs1627724	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1630693	0.87[EUR][1000 genomes]
rs1630905	0.87[EUR][1000 genomes]
rs1716156	0.83[EUR][1000 genomes]
rs1716157	0.87[EUR][1000 genomes]
rs1716158	0.84[EUR][1000 genomes]
rs1716159	0.87[EUR][1000 genomes]
rs1716160	0.88[EUR][1000 genomes]
rs1716164	0.85[EUR][1000 genomes]
rs1716165	0.93[EUR][1000 genomes]
rs1716167	0.93[EUR][1000 genomes]
rs1716168	0.92[EUR][1000 genomes]
rs1716170	0.80[EUR][1000 genomes]
rs1716171	0.80[EUR][1000 genomes]
rs1716172	0.82[EUR][1000 genomes]
rs1716173	0.84[EUR][1000 genomes]
rs1716175	0.87[EUR][1000 genomes]
rs1716176	0.90[EUR][1000 genomes]
rs1716177	0.90[EUR][1000 genomes]
rs1716182	0.86[EUR][1000 genomes]
rs1716185	0.92[EUR][1000 genomes]
rs1727290	0.89[EUR][1000 genomes]
rs1727294	0.93[EUR][1000 genomes]
rs1727296	0.93[EUR][1000 genomes]
rs1727300	0.85[EUR][1000 genomes]
rs1727302	0.81[EUR][1000 genomes]
rs1727306	0.87[EUR][1000 genomes]
rs1727309	0.85[EUR][1000 genomes]
rs1727310	0.85[EUR][1000 genomes]
rs1727313	0.91[EUR][1000 genomes]
rs1727314	0.93[EUR][1000 genomes]
rs1727315	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1727316	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1727317	0.90[EUR][1000 genomes]
rs1727320	0.88[EUR][1000 genomes]
rs1727322	0.84[EUR][1000 genomes]
rs1727323	0.88[EUR][1000 genomes]
rs1727324	0.85[EUR][1000 genomes]
rs1727325	0.88[EUR][1000 genomes]
rs1727334	0.80[EUR][1000 genomes]
rs1790086	0.87[EUR][1000 genomes]
rs1790087	0.87[EUR][1000 genomes]
rs1790089	0.90[EUR][1000 genomes]
rs1790090	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790095	0.90[EUR][1000 genomes]
rs1790098	0.90[EUR][1000 genomes]
rs1790100	0.90[EUR][1000 genomes]
rs1790101	0.87[EUR][1000 genomes]
rs1790102	0.87[EUR][1000 genomes]
rs1790108	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790109	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790116	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1790119	0.80[EUR][1000 genomes]
rs1790120	0.86[EUR][1000 genomes]
rs1790123	0.85[EUR][1000 genomes]
rs1790124	0.85[EUR][1000 genomes]
rs1790125	0.82[EUR][1000 genomes]
rs1790130	0.86[EUR][1000 genomes]
rs1790131	0.87[EUR][1000 genomes]
rs2049114	0.87[EUR][1000 genomes]
rs2510885	0.90[EUR][1000 genomes]
rs2682429	0.94[EUR][1000 genomes]
rs2682430	0.90[EUR][1000 genomes]
rs2682431	0.88[EUR][1000 genomes]
rs2682433	0.86[EUR][1000 genomes]
rs2682434	0.88[EUR][1000 genomes]
rs2695476	0.86[EUR][1000 genomes]
rs2695478	0.87[EUR][1000 genomes]
rs2695479	0.85[EUR][1000 genomes]
rs2695480	0.85[EUR][1000 genomes]
rs2695481	0.94[EUR][1000 genomes]
rs2695482	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2851435	0.84[EUR][1000 genomes]
rs2851436	0.85[EUR][1000 genomes]
rs2851438	0.94[EUR][1000 genomes]
rs2851441	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2851450	0.88[EUR][1000 genomes]
rs2851451	0.87[EUR][1000 genomes]
rs2947099	0.86[EUR][1000 genomes]
rs2950537	0.86[EUR][1000 genomes]
rs3018098	0.90[EUR][1000 genomes]
rs4372492	0.88[EUR][1000 genomes]
rs7313483	0.80[EUR][1000 genomes]
rs884548	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs941305	0.80[EUR][1000 genomes]
rs941306	0.80[EUR][1000 genomes]
rs949142	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS 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	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1727318	SBNO1	Cis_1M	lymphoblastoid	RTeQTL
rs1727318	LOC283378	Cis_1M	lymphoblastoid	RTeQTL
rs1727318	ARL6IP4	Cis_1M	lymphoblastoid	RTeQTL
rs1727318	CDK2AP1	cis	Esophagus Mucosa	GTEx
rs1727318	MPHOSPH9	Cis_1M	lymphoblastoid	RTeQTL
rs1727318	CDK2AP1	Cis_1M	lymphoblastoid	RTeQTL
rs1727318	RP11-282O18.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
3	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:123611400-123624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:123611800-123624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:123611800-123624400	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:123611800-123624600	Weak transcription	Aorta	Aorta
8	chr12:123612000-123624000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:123612000-123624600	Weak transcription	NH-A	brain
10	chr12:123616400-123624200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:123616600-123624200	Weak transcription	Fetal Intestine Large	intestine
12	chr12:123616600-123624400	Weak transcription	Small Intestine	intestine
13	chr12:123616600-123624600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:123616600-123624600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:123616800-123624000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:123616800-123624000	Weak transcription	Osteobl	bone
17	chr12:123616800-123624200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:123616800-123624200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:123616800-123624600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:123617000-123621400	Weak transcription	Hela-S3	cervix
21	chr12:123617000-123621600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:123617000-123621600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:123617000-123621600	Weak transcription	Left Ventricle	heart
24	chr12:123617000-123624000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:123617000-123624000	Weak transcription	Colonic Mucosa	Colon
26	chr12:123617000-123624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:123617000-123624200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:123617000-123624200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:123617000-123624200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:123617000-123624200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:123617000-123624200	Weak transcription	Right Ventricle	heart
32	chr12:123617000-123624400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:123617000-123624600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:123617000-123624600	Weak transcription	Pancreas	Pancrea
35	chr12:123617200-123621600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:123617200-123621600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:123617200-123624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:123617400-123622800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:123617400-123624000	Weak transcription	Primary T cells from cord blood	blood
40	chr12:123617400-123624400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:123617400-123624600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:123617600-123624000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:123618000-123624000	Weak transcription	NHLF	lung
44	chr12:123618000-123624200	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:123618000-123624200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr12:123618000-123624200	Weak transcription	HSMM	muscle
47	chr12:123618000-123624600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:123618000-123634200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:123618200-123624000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:123618200-123624000	Weak transcription	Colon Smooth Muscle	Colon

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