Variant report

Variant	rs1677727
Chromosome Location	chr10:26990390-26990391
allele	A/G
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	POLR2A	chr10:26990153-26990869	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr10:26990224-26990498	K562	blood:	n/a	n/a
3	KAP1	chr10:26990236-26990559	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
PDSS1	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10764634	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1613801	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1616471	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677711	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1677713	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1677714	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1677715	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677726	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1677731	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1677732	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1677733	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677734	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677735	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1677736	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1677737	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1677738	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1677739	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1748338	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1748340	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1748341	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1748342	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748343	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1748344	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1748345	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1748346	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1748347	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748348	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1748349	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1748350	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1748351	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17558709	0.80[ASN][1000 genomes]
rs1780170	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1780171	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1780172	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1780173	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1780175	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1780177	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1780178	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1780185	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1780187	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1780188	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1809358	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1812155	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1824851	0.86[ASN][1000 genomes]
rs1871299	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1871300	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1947788	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2005118	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2005119	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2005253	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2011849	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2011860	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2224898	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2251814	0.82[EUR][1000 genomes]
rs2448109	0.85[EUR][1000 genomes]
rs2448110	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2448112	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2448113	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2448114	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2448115	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2448116	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2448118	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2448119	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2448120	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2448121	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448122	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2448123	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448124	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2448125	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2448126	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2448128	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2448129	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2448131	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2477282	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2477283	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2477285	0.82[EUR][1000 genomes]
rs2477286	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2477287	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2477288	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477289	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477290	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477291	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2477293	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489558	0.82[EUR][1000 genomes]
rs2489584	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489585	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2489586	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489587	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489588	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489590	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2489591	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489592	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2489593	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2489594	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2489595	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2489596	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2489597	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2489598	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2489600	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2489601	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2489602	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2489603	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2860415	0.87[EUR][1000 genomes]
rs3101794	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3118159	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3118160	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3121616	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3121618	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4749176	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7905832	0.84[EUR][1000 genomes]
rs7910625	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7914153	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7916511	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs899374	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9417486	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9418574	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	23 gene(s)	inside rSNPs	diseases
3	esv1798973	chr10:26968171-27001814	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1677727	PDSS1	cis	Whole Blood	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26987600-26990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:26987600-26990400	Weak transcription	Primary T cells from cord blood	blood
3	chr10:26987600-26990800	Weak transcription	Primary B cells from cord blood	blood
4	chr10:26987600-26990800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr10:26987600-26991000	Enhancers	Liver	Liver
6	chr10:26987600-26994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:26987600-26994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr10:26987600-26994800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:26987600-26994800	Weak transcription	Brain Substantia Nigra	brain
10	chr10:26987600-26994800	Weak transcription	Esophagus	oesophagus
11	chr10:26987600-26994800	Weak transcription	Ovary	ovary
12	chr10:26987600-26994800	Weak transcription	HSMMtube	muscle
13	chr10:26987600-26995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:26987600-26995000	Weak transcription	Gastric	stomach
15	chr10:26987600-26995000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr10:26987600-26996200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:26987600-26996200	Weak transcription	Pancreas	Pancrea
18	chr10:26987600-26996800	Weak transcription	Aorta	Aorta
19	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
21	chr10:26987800-26990400	Weak transcription	Brain Germinal Matrix	brain
22	chr10:26987800-26994800	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:26987800-26994800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:26987800-26995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
28	chr10:26988000-26991200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:26988000-26991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:26988000-26993800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:26988000-26994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr10:26988000-26994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:26988000-26994600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr10:26988000-26994600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr10:26988000-26994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:26988000-26994600	Weak transcription	Adipose Nuclei	Adipose
37	chr10:26988000-26994800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr10:26988000-26994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:26988000-26994800	Weak transcription	Fetal Brain Female	brain
40	chr10:26988000-26994800	Weak transcription	Fetal Lung	lung
41	chr10:26988000-26994800	Weak transcription	Spleen	Spleen
42	chr10:26988000-26995000	Weak transcription	NHLF	lung
43	chr10:26988000-26995200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:26988000-26995400	Weak transcription	Placenta	Placenta
45	chr10:26988000-26995800	Weak transcription	Brain Angular Gyrus	brain
46	chr10:26988000-26996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:26988000-26996400	Weak transcription	HSMM	muscle
48	chr10:26988000-26996400	Weak transcription	Osteobl	bone
49	chr10:26988000-26996600	Weak transcription	HUVEC	blood vessel
50	chr10:26988000-27069600	Weak transcription	Colon Smooth Muscle	Colon

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