Variant report

Variant	rs34803917
Chromosome Location	chr3:145878591-145878592
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:63896385..63899379-chr3:145877518..145879661,2	MCF-7	breast:
2	chr3:145782122..145785411-chr3:145878106..145882365,5	MCF-7	breast:
3	chr3:145877632..145880246-chrX:55477813..55479806,2	MCF-7	breast:
4	chr3:145878063..145880102-chr6:43735669..43738313,2	MCF-7	breast:
5	chr3:145787365..145792721-chr3:145875341..145880381,7	MCF-7	breast:
6	chr3:145779679..145784840-chr3:145877412..145880527,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243415	Chromatin interaction
ENSG00000232013	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000187601	Chromatin interaction
ENSG00000266328	Chromatin interaction
ENSG00000152952	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11928424	0.91[ASN][1000 genomes]
rs17412259	0.83[EUR][1000 genomes]
rs2864795	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762690	0.94[EUR][1000 genomes]
rs4681295	0.94[EUR][1000 genomes]
rs4681296	0.94[EUR][1000 genomes]
rs4681298	0.94[EUR][1000 genomes]
rs4681300	0.97[EUR][1000 genomes]
rs73148913	0.83[EUR][1000 genomes]
rs73148936	0.83[EUR][1000 genomes]
rs73148974	0.96[EUR][1000 genomes]
rs73148977	0.97[EUR][1000 genomes]
rs73148979	0.94[EUR][1000 genomes]
rs73148981	0.97[EUR][1000 genomes]
rs73148992	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73148994	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73148996	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73148997	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73148999	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73149001	0.91[ASN][1000 genomes]
rs73150804	0.91[ASN][1000 genomes]
rs73150806	0.91[ASN][1000 genomes]
rs73150808	0.91[ASN][1000 genomes]
rs73150809	0.91[ASN][1000 genomes]
rs73150811	0.91[ASN][1000 genomes]
rs73150812	0.91[ASN][1000 genomes]
rs73150813	0.91[ASN][1000 genomes]
rs73150816	0.91[ASN][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	nsv4046	chr3:145693249-145880189	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv877613	chr3:145833232-145912055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1011146	chr3:145859022-145911429	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34803917	PLOD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145873600-145879800	Active TSS	Stomach Smooth Muscle	stomach
2	chr3:145874200-145880000	Active TSS	Right Ventricle	heart
3	chr3:145874800-145880000	Active TSS	Ovary	ovary
4	chr3:145874800-145880000	Active TSS	Right Atrium	heart
5	chr3:145874800-145880600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr3:145875000-145880400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr3:145875600-145880000	Active TSS	A549	lung
8	chr3:145876000-145879600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:145876000-145879800	Active TSS	Colon Smooth Muscle	Colon
10	chr3:145876000-145879800	Active TSS	HSMMtube	muscle
11	chr3:145876000-145880000	Active TSS	Aorta	Aorta
12	chr3:145876200-145879800	Active TSS	Fetal Kidney	kidney
13	chr3:145876200-145879800	Active TSS	Rectal Smooth Muscle	rectum
14	chr3:145876400-145878600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:145876400-145879600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:145876400-145879800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:145876600-145879600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr3:145876600-145879600	Active TSS	NHLF	lung
19	chr3:145876600-145879800	Active TSS	Placenta Amnion	Placenta Amnion
20	chr3:145876600-145880000	Active TSS	Fetal Stomach	stomach
21	chr3:145876800-145879200	Active TSS	Brain Hippocampus Middle	brain
22	chr3:145876800-145879600	Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:145876800-145879600	Active TSS	Fetal Intestine Large	intestine
24	chr3:145876800-145879600	Bivalent/Poised TSS	HepG2	liver
25	chr3:145876800-145879600	Active TSS	HSMM	muscle
26	chr3:145876800-145879800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr3:145876800-145879800	Active TSS	Left Ventricle	heart
28	chr3:145876800-145880000	Active TSS	Colonic Mucosa	Colon
29	chr3:145877000-145878600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:145877000-145878600	Active TSS	Fetal Heart	heart
31	chr3:145877000-145879200	Active TSS	HMEC	breast
32	chr3:145877000-145879400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:145877000-145879400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr3:145877000-145879400	Active TSS	HUVEC	blood vessel
35	chr3:145877000-145879400	Active TSS	NH-A	brain
36	chr3:145877000-145879400	Active TSS	Osteobl	bone
37	chr3:145877000-145879600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:145877000-145879600	Active TSS	Fetal Intestine Small	intestine
39	chr3:145877000-145879600	Active TSS	Fetal Lung	lung
40	chr3:145877000-145879800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:145877000-145879800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:145877000-145879800	Active TSS	Brain Cingulate Gyrus	brain
43	chr3:145877000-145879800	Active TSS	Brain Substantia Nigra	brain
44	chr3:145877000-145880000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr3:145877000-145880200	Active TSS	Brain Angular Gyrus	brain
46	chr3:145877200-145879400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr3:145877200-145879600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr3:145877200-145879800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:145877200-145879800	Active TSS	Liver	Liver
50	chr3:145877200-145879800	Active TSS	Duodenum Mucosa	Duodenum

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