Variant report

Variant	rs10264619
Chromosome Location	chr7:65995444-65995445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VKORC1L1-2	chr7:65993448-65996860	ENSG00000249705
2	lnc-SBDS-4	chr7:65993425-65996858	ENSG00000229180
3	lnc-SBDS-4	chr7:65992918-65996858	NONHSAT121200
4	lnc-SBDS-4	chr7:65991075-65996858	ENSG00000229180.4

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10081172	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224536	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225392	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10226294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10228381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10229580	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10236665	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237244	1.00[CEU][hapmap]
rs10239200	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240153	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10240582	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10243608	0.84[ASN][1000 genomes]
rs10244602	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10247852	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10255813	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10256117	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10265154	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10266041	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10270326	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10271177	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10273402	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10275413	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10277231	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10278763	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10280431	0.80[EUR][1000 genomes]
rs10280717	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10281544	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12333749	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16868546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1862086	0.93[EUR][1000 genomes]
rs1882656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1882657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1895134	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28375318	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28455065	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28474923	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28526115	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28606020	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28607736	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28657758	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757417	0.83[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs3764904	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3814464	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3962133	0.84[ASN][1000 genomes]
rs4518552	0.86[EUR][1000 genomes]
rs4587218	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57902746	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58123804	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58973756	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59079543	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60344524	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61093354	0.80[EUR][1000 genomes]
rs61132090	0.81[EUR][1000 genomes]
rs61700307	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6949083	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6964080	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6973897	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73133809	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73133816	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133859	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73133865	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135905	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135907	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135909	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135917	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135922	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135925	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135950	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135960	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73135973	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137960	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137963	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73137978	0.85[ASN][1000 genomes]
rs73148698	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73152708	0.88[EUR][1000 genomes]
rs73152719	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73152725	0.86[EUR][1000 genomes]
rs9654843	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv967444	chr7:65992587-66013934	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10264619	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs10264619	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx
rs10264619	GS1-124K5.12	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65981400-66001000	Weak transcription	Fetal Brain Female	brain
2	chr7:65983400-66001800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:65983400-66006000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:65983600-66000400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:65985800-66006200	Weak transcription	Pancreas	Pancrea
6	chr7:65987800-66006200	Weak transcription	Gastric	stomach
7	chr7:65988400-66006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:65988600-66006200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:65988600-66009000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:65988600-66009000	Weak transcription	HSMMtube	muscle
11	chr7:65988800-65996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:65988800-66008200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr7:65989000-66006200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr7:65989000-66007600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:65989400-65996800	Strong transcription	Fetal Stomach	stomach
16	chr7:65989400-65998800	Weak transcription	Right Atrium	heart
17	chr7:65989600-65996400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:65989600-65997000	Strong transcription	Fetal Intestine Small	intestine
19	chr7:65989800-66004200	Weak transcription	Dnd41	blood
20	chr7:65990000-66009000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:65990600-66004000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:65990600-66005600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:65991200-66009800	Weak transcription	Small Intestine	intestine
24	chr7:65991400-66006200	Weak transcription	Primary B cells from cord blood	blood
25	chr7:65991400-66006200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:65991600-66006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:65991800-66007600	Weak transcription	NH-A	brain
28	chr7:65992000-66005000	Weak transcription	Left Ventricle	heart
29	chr7:65992200-65996800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:65992400-66006200	Weak transcription	Osteobl	bone
31	chr7:65992600-65996800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:65992600-65996800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:65992800-65995600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr7:65992800-65998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:65992800-66001200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr7:65993000-65997000	Strong transcription	Lung	lung
37	chr7:65993000-66006200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:65993200-65996600	Strong transcription	Adipose Nuclei	Adipose
39	chr7:65993200-65999200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:65993400-65996800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:65993400-66006200	Weak transcription	Colonic Mucosa	Colon
42	chr7:65993600-66006200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:65993600-66009000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr7:65993600-66009400	Weak transcription	HSMM	muscle
45	chr7:65993800-65995600	Strong transcription	Primary T cells from cord blood	blood
46	chr7:65993800-65995600	Strong transcription	Ovary	ovary
47	chr7:65993800-66006200	Weak transcription	NHEK	skin
48	chr7:65994000-65996400	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:65994000-66006200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr7:65994000-66008400	Weak transcription	Primary B cells from peripheral blood	blood

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