Variant report

Variant	rs13035662
Chromosome Location	chr2:73953186-73953187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10208995	0.80[AMR][1000 genomes]
rs11891140	0.80[AMR][1000 genomes]
rs12615807	0.80[AMR][1000 genomes]
rs12713789	0.81[AMR][1000 genomes]
rs12713790	0.81[AMR][1000 genomes]
rs12713791	0.81[AMR][1000 genomes]
rs2421675	0.82[AMR][1000 genomes]
rs4358149	0.81[AMR][1000 genomes]
rs4852978	0.80[AMR][1000 genomes]
rs6750494	0.81[AMR][1000 genomes]
rs6750515	0.81[AMR][1000 genomes]
rs7591112	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv2753082	chr2:73891045-73955545	Weak transcription Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13035662	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs13035662	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73900600-73954800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:73927800-73954800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:73935000-73955200	Weak transcription	Colonic Mucosa	Colon
4	chr2:73943600-73955000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:73943800-73954800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:73944000-73955000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr2:73944000-73958000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:73944200-73954800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:73944200-73954800	Weak transcription	A549	lung
10	chr2:73944200-73955000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:73944200-73955000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:73944200-73955000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:73944200-73955400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:73944400-73955000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:73944400-73955400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:73944400-73958000	Weak transcription	Osteobl	bone
17	chr2:73944600-73954800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:73944600-73954800	Weak transcription	Spleen	Spleen
19	chr2:73944600-73963000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:73944600-73963600	Weak transcription	Stomach Mucosa	stomach
21	chr2:73944800-73955000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:73945000-73955000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:73945000-73955000	Weak transcription	Ovary	ovary
24	chr2:73946400-73954800	Weak transcription	HSMMtube	muscle
25	chr2:73946400-73955000	Weak transcription	Liver	Liver
26	chr2:73946600-73954800	Weak transcription	Pancreas	Pancrea
27	chr2:73946600-73955000	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:73947600-73955000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:73947800-73955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:73949400-73954800	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:73949400-73955000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:73950000-73955400	Weak transcription	Aorta	Aorta
33	chr2:73950800-73954800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:73951000-73955000	Weak transcription	Esophagus	oesophagus
35	chr2:73951000-73955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:73951200-73955000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:73951200-73955000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:73951600-73954800	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:73951600-73954800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:73951600-73955000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:73951600-73957600	Weak transcription	K562	blood
42	chr2:73952000-73954800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:73952200-73954800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:73952200-73955000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:73952200-73958000	Weak transcription	HUVEC	blood vessel
46	chr2:73952200-73958400	Weak transcription	NHDF-Ad	bronchial
47	chr2:73952400-73955600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:73952600-73954600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:73952600-73954800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:73952600-73954800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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