Variant report

Variant	rs17537634
Chromosome Location	chr12:32687352-32687353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12319134	1.00[JPT][hapmap]
rs17537724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538095	1.00[ASW][hapmap];1.00[JPT][hapmap]
rs17538348	1.00[JPT][hapmap]
rs17538469	1.00[ASW][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap]
rs17609311	1.00[AMR][1000 genomes]
rs17610602	1.00[JPT][hapmap]
rs7311487	1.00[AMR][1000 genomes]
rs7311888	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17537634	PRSS30P	trans	lymphoblastoid	seeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32668400-32702600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:32676200-32688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:32681600-32688200	Weak transcription	Esophagus	oesophagus
4	chr12:32683200-32688600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:32683600-32688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:32684400-32688600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:32685400-32688800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:32685600-32688400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:32685800-32687800	Weak transcription	Fetal Brain Female	brain
10	chr12:32686000-32688400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:32686200-32688200	Weak transcription	Gastric	stomach
12	chr12:32686200-32688200	Weak transcription	Lung	lung
13	chr12:32686200-32690200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:32686200-32692400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:32686400-32690000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:32686600-32688200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:32686600-32688200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:32686600-32688200	Weak transcription	Pancreas	Pancrea
19	chr12:32686600-32688200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:32686600-32689000	Active TSS	Stomach Smooth Muscle	stomach
21	chr12:32686600-32689600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:32686600-32690200	Weak transcription	Small Intestine	intestine
23	chr12:32686600-32691000	Active TSS	Ovary	ovary
24	chr12:32686800-32687400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:32686800-32687400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr12:32686800-32687400	Weak transcription	Stomach Mucosa	stomach
27	chr12:32686800-32687800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:32686800-32687800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:32686800-32688000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:32686800-32688200	Active TSS	NH-A	brain
31	chr12:32686800-32688400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr12:32686800-32688600	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:32686800-32688600	Enhancers	Fetal Thymus	thymus
34	chr12:32686800-32688800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:32686800-32688800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr12:32686800-32689000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:32686800-32689200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:32686800-32689200	Enhancers	Fetal Heart	heart
39	chr12:32686800-32689600	Flanking Active TSS	HUVEC	blood vessel
40	chr12:32687000-32687400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:32687000-32687400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr12:32687000-32687400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:32687000-32687400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:32687000-32687400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr12:32687000-32687400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr12:32687000-32687400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr12:32687000-32687400	Active TSS	Fetal Intestine Large	intestine
48	chr12:32687000-32687400	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr12:32687000-32687400	Flanking Active TSS	Fetal Kidney	kidney
50	chr12:32687000-32687400	Active TSS	Fetal Muscle Trunk	muscle

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