Variant report

Variant	rs17536527
Chromosome Location	chr15:45719187-45719188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1049518	1.00[CHB][hapmap]
rs10519018	1.00[CHB][hapmap]
rs1060896	1.00[CHB][hapmap]
rs1145076	1.00[CHB][hapmap]
rs1145077	1.00[CHB][hapmap]
rs1145086	1.00[CHB][hapmap]
rs1145089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1145093	1.00[CHB][hapmap]
rs11632752	1.00[CHB][hapmap]
rs11632778	1.00[CHB][hapmap]
rs11632920	1.00[CHB][hapmap]
rs11637838	1.00[CHB][hapmap]
rs11637920	1.00[CHB][hapmap]
rs11639420	1.00[CHB][hapmap]
rs12904150	1.00[CHB][hapmap]
rs12908818	1.00[CHB][hapmap]
rs12911186	1.00[CHB][hapmap]
rs12915314	1.00[CHB][hapmap]
rs1346267	1.00[CHB][hapmap]
rs1617984	1.00[CHB][hapmap]
rs1706770	1.00[CHB][hapmap]
rs1719231	1.00[CHB][hapmap]
rs1719250	1.00[CHB][hapmap]
rs2413768	1.00[CHB][hapmap]
rs2413772	1.00[CHB][hapmap]
rs2413774	1.00[CHB][hapmap]
rs2461705	1.00[CHB][hapmap]
rs2486274	1.00[CHB][hapmap]
rs6493143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6493144	1.00[CHB][hapmap]
rs6493145	1.00[CHB][hapmap]
rs7165039	1.00[CHB][hapmap]
rs7166580	1.00[CHB][hapmap]
rs7167146	1.00[CHB][hapmap]
rs7171312	1.00[CHB][hapmap]
rs8024620	1.00[CHB][hapmap]
rs8039138	1.00[CHB][hapmap]
rs8039352	1.00[CHB][hapmap]
rs8039354	1.00[CHB][hapmap]
rs8039540	1.00[CHB][hapmap]
rs872192	1.00[CHB][hapmap]

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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Glomerular filtration rate	23535967	GWAS catalog

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs17536527	CTD-2651B20.3	cis	Thyroid	GTEx
rs17536527	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs17536527	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs17536527	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs17536527	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs17536527	CTD-2651B20.3	cis	lung	GTEx
rs17536527	CTD-2651B20.5	cis	Nerve Tibial	GTEx
rs17536527	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs17536527	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs17536527	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs17536527	CTD-2651B20.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45697000-45722200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:45706200-45722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:45706600-45722800	Weak transcription	Fetal Heart	heart
4	chr15:45710000-45720600	Weak transcription	A549	lung
5	chr15:45711400-45722400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:45711400-45722600	Weak transcription	Brain Substantia Nigra	brain
7	chr15:45711600-45720800	Weak transcription	Small Intestine	intestine
8	chr15:45711600-45722400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:45711600-45722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:45711800-45722200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:45711800-45722200	Weak transcription	Stomach Mucosa	stomach
12	chr15:45711800-45722400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:45711800-45722400	Weak transcription	Pancreas	Pancrea
14	chr15:45711800-45722600	Weak transcription	Spleen	Spleen
15	chr15:45712000-45719800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:45712000-45722200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:45712000-45722200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr15:45712000-45722400	Weak transcription	Brain Angular Gyrus	brain
19	chr15:45712000-45722400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:45712000-45722400	Weak transcription	Gastric	stomach
21	chr15:45712000-45722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:45712000-45722600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:45712000-45722600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:45712000-45722600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:45712200-45721600	Weak transcription	Esophagus	oesophagus
26	chr15:45712200-45721600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:45712200-45722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:45712200-45722400	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:45712200-45722400	Weak transcription	Lung	lung
30	chr15:45712200-45722400	Weak transcription	Ovary	ovary
31	chr15:45712200-45722600	Weak transcription	Colonic Mucosa	Colon
32	chr15:45712200-45722600	Weak transcription	Psoas Muscle	Psoas
33	chr15:45712200-45722600	Weak transcription	Right Ventricle	heart
34	chr15:45712200-45722600	Weak transcription	NHLF	lung
35	chr15:45712400-45720600	Weak transcription	NHEK	skin
36	chr15:45712400-45722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:45712600-45722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:45712600-45722400	Weak transcription	Colon Smooth Muscle	Colon
39	chr15:45712800-45722600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:45712800-45722800	Weak transcription	Primary T cells from cord blood	blood
41	chr15:45713200-45722600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:45713400-45721600	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:45713400-45722200	Weak transcription	Left Ventricle	heart
44	chr15:45713800-45722400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:45714000-45722200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:45714000-45722400	Weak transcription	Brain Anterior Caudate	brain
47	chr15:45714200-45722400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr15:45714200-45722400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr15:45714200-45722600	Weak transcription	HMEC	breast
50	chr15:45714200-45722600	Weak transcription	Osteobl	bone

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