Variant report

Variant	rs17382301
Chromosome Location	chr10:90966393-90966394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1131706	0.84[EUR][1000 genomes]
rs11594137	0.90[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12780342	0.82[CHD][hapmap]
rs2297475	1.00[JPT][hapmap]
rs34419176	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35104206	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4933497	0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7077817	0.82[EUR][1000 genomes]
rs7089138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers 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	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831944	chr10:90822654-90967018	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758235	chr10:90835064-91017486	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2759775	chr10:90835064-91017486	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
7	nsv517170	chr10:90931602-90975207	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv437127	chr10:90940003-90968103	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv467422	chr10:90940687-90975207	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv467423	chr10:90940687-90975207	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv551858	chr10:90940687-90975207	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1038123	chr10:90954417-90992129	Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1040280	chr10:90962032-90979093	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv1042428	chr10:90962252-90977164	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17382301	PAPSS2	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90964800-90967400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr10:90965000-90966800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:90965200-90966400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
4	chr10:90965400-90966800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
5	chr10:90965400-90966800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr10:90965600-90968400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:90965800-90966400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr10:90965800-90966400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr10:90966000-90966400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr10:90966000-90966400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:90966000-90966400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr10:90966000-90966400	Active TSS	Brain Anterior Caudate	brain
13	chr10:90966000-90966400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:90966000-90968400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:90966200-90966400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:90966200-90966400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:90966200-90966400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:90966200-90966400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr10:90966200-90966400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:90966200-90966400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:90966200-90966400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:90966200-90966400	Bivalent Enhancer	Primary B cells from cord blood	blood
23	chr10:90966200-90966400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr10:90966200-90966400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr10:90966200-90966400	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
26	chr10:90966200-90966400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr10:90966200-90966400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr10:90966200-90966400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
29	chr10:90966200-90966400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr10:90966200-90966400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr10:90966200-90966400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:90966200-90966400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:90966200-90966400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
34	chr10:90966200-90966400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr10:90966200-90966400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:90966200-90966400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:90966200-90966400	Bivalent Enhancer	Liver	Liver
38	chr10:90966200-90966400	Active TSS	Brain Substantia Nigra	brain
39	chr10:90966200-90966400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr10:90966200-90966400	Bivalent Enhancer	Fetal Brain Female	brain
41	chr10:90966200-90966400	Bivalent Enhancer	Fetal Heart	heart
42	chr10:90966200-90966400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr10:90966200-90966400	Bivalent Enhancer	Fetal Lung	lung
44	chr10:90966200-90966400	Bivalent Enhancer	Left Ventricle	heart
45	chr10:90966200-90966400	Enhancers	Pancreas	Pancrea
46	chr10:90966200-90966400	Bivalent/Poised TSS	Psoas Muscle	Psoas
47	chr10:90966200-90966400	Active TSS	Right Atrium	heart
48	chr10:90966200-90966400	Enhancers	Right Ventricle	heart
49	chr10:90966200-90966400	Flanking Bivalent TSS/Enh	Thymus	Thymus
50	chr10:90966200-90966400	Bivalent Enhancer	HMEC	breast

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