Variant report

Variant	rs35142181
Chromosome Location	chr15:45323197-45323198
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45313440..45317462-chr15:45317525..45323259,9	K562	blood:

Variant related genes	Relation type
ENSG00000140263	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12902042	0.91[ASN][1000 genomes]
rs35386632	0.83[ASN][1000 genomes]
rs35426906	0.83[ASN][1000 genomes]
rs35628479	0.91[ASN][1000 genomes]
rs35769013	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66662768	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71480271	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	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
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1048317	chr15:45152371-45326205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv977710	chr15:45316191-45360995	Strong transcription Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv9259	chr15:45317368-45326350	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3401551	chr15:45317760-45325058	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3370250	chr15:45318060-45325358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv1811585	chr15:45318399-45323951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820185	chr15:45318399-45323951	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv827314	chr15:45318708-45323951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv827315	chr15:45318832-45323951	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv827316	chr15:45318855-45323951	Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv827317	chr15:45318881-45323951	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv827318	chr15:45318881-45328666	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv820141	chr15:45318900-45326138	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv20125	chr15:45318919-45323774	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	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
20	esv1809051	chr15:45319651-45323951	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1809467	chr15:45319651-45323951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1818156	chr15:45319651-45323951	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1818197	chr15:45319651-45323951	Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv569311	chr15:45321049-45323264	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35142181	RP11-109D20.2	cis	Skin Sun Exposed Lower leg	GTEx
rs35142181	CTD-2008A1.2	cis	Skin Sun Exposed Lower leg	GTEx
rs35142181	SORD	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45316200-45326200	Weak transcription	Psoas Muscle	Psoas
2	chr15:45316200-45340600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:45316400-45323400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:45316400-45327600	Weak transcription	Primary B cells from cord blood	blood
5	chr15:45316400-45329400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr15:45316400-45333000	Weak transcription	Lung	lung
7	chr15:45316400-45341200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:45316400-45342200	Weak transcription	HSMMtube	muscle
9	chr15:45316400-45342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:45316600-45324800	Weak transcription	Spleen	Spleen
11	chr15:45316600-45325400	Weak transcription	NHDF-Ad	bronchial
12	chr15:45316600-45326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:45316600-45327000	Weak transcription	Esophagus	oesophagus
14	chr15:45316600-45328800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:45316600-45328800	Weak transcription	Pancreas	Pancrea
16	chr15:45316600-45329000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:45316600-45329000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:45316600-45329000	Weak transcription	Osteobl	bone
19	chr15:45316600-45329200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:45316600-45329200	Weak transcription	NHLF	lung
21	chr15:45316600-45329400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:45316600-45329600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:45316600-45339200	Weak transcription	Fetal Lung	lung
24	chr15:45316600-45340000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:45316600-45340600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:45316600-45340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:45316600-45344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr15:45316600-45351000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:45316600-45356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:45316600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr15:45316800-45337600	Weak transcription	GM12878-XiMat	blood
32	chr15:45316800-45340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:45316800-45346400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:45317200-45326400	Weak transcription	Gastric	stomach
35	chr15:45317200-45326800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:45317400-45326000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr15:45319000-45323800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:45319000-45323800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:45319200-45363200	Weak transcription	Fetal Thymus	thymus
40	chr15:45319400-45329000	Weak transcription	A549	lung
41	chr15:45319600-45329000	Weak transcription	Brain Anterior Caudate	brain
42	chr15:45319800-45329000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:45319800-45339800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:45319800-45340600	Weak transcription	Right Ventricle	heart
45	chr15:45319800-45363600	Weak transcription	Brain Angular Gyrus	brain
46	chr15:45320200-45328800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:45320400-45329000	Weak transcription	Fetal Heart	heart
48	chr15:45321200-45323600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:45321200-45323800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:45321200-45323800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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