Variant report

Variant	rs67827668
Chromosome Location	chr7:127499338-127499339
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr7:127499276-127499413	K562	blood:	n/a	n/a
2	NFYB	chr7:127499318-127499518	GM12878	blood:	n/a	chr7:127499452-127499462 chr7:127499449-127499464 chr7:127499450-127499464 chr7:127499449-127499464 chr7:127499451-127499464 chr7:127499452-127499462

Variant related genes	Relation type
ENSG00000240579	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10251423	0.82[AFR][1000 genomes]
rs1029927	0.88[AFR][1000 genomes]
rs10487499	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	1.00[ASN][1000 genomes]
rs12375023	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540357	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12706820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.99[EUR][1000 genomes]
rs17151466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.83[EUR][1000 genomes]
rs17151653	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151668	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151682	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17676654	1.00[ASN][1000 genomes]
rs1860934	0.87[AFR][1000 genomes]
rs325440	0.85[AFR][1000 genomes]
rs325445	0.85[AFR][1000 genomes]
rs325447	0.85[AFR][1000 genomes]
rs325451	0.87[AFR][1000 genomes]
rs327508	1.00[ASN][1000 genomes]
rs34026100	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660964	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779530	0.85[AFR][1000 genomes]
rs55660321	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	1.00[ASN][1000 genomes]
rs6467157	1.00[ASN][1000 genomes]
rs67632185	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953231	1.00[ASN][1000 genomes]
rs6959487	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968199	0.81[AFR][1000 genomes]
rs73232968	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234873	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73234874	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73238078	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs741094	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.99[EUR][1000 genomes]
rs7785596	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	0.99[EUR][1000 genomes]
rs7810024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894062	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917832	0.87[AFR][1000 genomes]
rs9649027	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67827668	SND1	cis	Artery Tibial	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127481400-127501000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:127482600-127503200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:127485000-127512000	Weak transcription	Aorta	Aorta
4	chr7:127485200-127505000	Weak transcription	HUVEC	blood vessel
5	chr7:127485200-127527800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:127485600-127522000	Weak transcription	Placenta	Placenta
7	chr7:127485800-127515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:127486800-127502400	Weak transcription	Hela-S3	cervix
9	chr7:127488200-127516400	Weak transcription	HMEC	breast
10	chr7:127488400-127506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:127488600-127504800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:127488600-127510000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:127488600-127515400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:127489600-127508000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:127490000-127500000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:127490200-127512200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:127490400-127506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:127490600-127505400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:127491200-127504800	Weak transcription	HepG2	liver
20	chr7:127491200-127505000	Weak transcription	Primary B cells from cord blood	blood
21	chr7:127491200-127512200	Weak transcription	A549	lung
22	chr7:127491400-127504400	Weak transcription	NHDF-Ad	bronchial
23	chr7:127491400-127505200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:127491400-127515400	Weak transcription	NH-A	brain
25	chr7:127491400-127527800	Weak transcription	Liver	Liver
26	chr7:127491600-127504800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:127491600-127504800	Weak transcription	Osteobl	bone
28	chr7:127491600-127505000	Weak transcription	NHLF	lung
29	chr7:127492000-127504800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:127492000-127505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:127492000-127505200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:127492000-127507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:127494000-127515400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:127495400-127500200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr7:127495400-127500600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:127495400-127500800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr7:127495600-127499400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:127495600-127500600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:127495600-127500800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:127495800-127500600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:127496400-127499400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:127496400-127500600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:127496600-127503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:127496600-127505000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:127496600-127519400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:127496800-127500400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:127497000-127506000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr7:127497200-127504600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:127497400-127499400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:127497400-127500000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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