Variant report

Variant	rs34695557
Chromosome Location	chr3:145793697-145793698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:145793622-145794454	U87	brain:	n/a	n/a
2	POLR2A	chr3:145793622-145794403	U87	brain:	n/a	n/a

Variant related genes	Relation type
PLOD2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13065572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13066226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13075648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13079521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13088659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13095139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16857900	1.00[EUR][1000 genomes]
rs34041519	0.87[AMR][1000 genomes]
rs34092280	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34201307	1.00[AFR][1000 genomes]
rs34248972	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34298175	1.00[AMR][1000 genomes]
rs34392701	1.00[AFR][1000 genomes]
rs34589717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34901222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35017529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35020806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35080774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35479343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35520151	1.00[AFR][1000 genomes]
rs35687630	1.00[AFR][1000 genomes]
rs35880277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35969739	1.00[AMR][1000 genomes]
rs62272613	1.00[AFR][1000 genomes]
rs71300372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71300373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71300374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71300375	0.84[EUR][1000 genomes]
rs71300377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71300378	1.00[AMR][1000 genomes]
rs71300379	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71300380	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71300381	1.00[AFR][1000 genomes]
rs71300383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71621137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877584	chr3:144903957-145833232	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv525829	chr3:145614317-145863779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	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
4	nsv965397	chr3:145789376-145797057	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145774600-145795400	Weak transcription	Aorta	Aorta
2	chr3:145777000-145819400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:145778200-145817200	Weak transcription	Fetal Stomach	stomach
4	chr3:145779600-145820600	Weak transcription	Fetal Kidney	kidney
5	chr3:145780000-145815600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr3:145780600-145820400	Weak transcription	Placenta	Placenta
7	chr3:145780800-145793800	Weak transcription	Ovary	ovary
8	chr3:145780800-145793800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:145780800-145819800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:145781800-145831800	Weak transcription	Psoas Muscle	Psoas
11	chr3:145782800-145843200	Weak transcription	Pancreas	Pancrea
12	chr3:145784000-145811800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:145784600-145848800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:145784800-145794000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:145785200-145806400	Weak transcription	Colonic Mucosa	Colon
16	chr3:145785200-145819400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:145785400-145796800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:145785600-145798600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:145786800-145793800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:145787000-145807200	Weak transcription	Fetal Lung	lung
21	chr3:145787200-145798400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:145787400-145793800	Weak transcription	Brain Anterior Caudate	brain
23	chr3:145787600-145798200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:145789200-145796000	Weak transcription	HMEC	breast
25	chr3:145789200-145830800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:145789400-145793800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:145789600-145793800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:145789800-145793800	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:145789800-145811000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:145790000-145808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:145790000-145819800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:145790200-145793800	Weak transcription	Fetal Intestine Large	intestine
33	chr3:145790200-145793800	Weak transcription	HSMMtube	muscle
34	chr3:145790200-145797000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:145790200-145798000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr3:145790200-145818600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:145790200-145819400	Weak transcription	Left Ventricle	heart
38	chr3:145790400-145793800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:145790400-145794200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:145790400-145843200	Weak transcription	Right Ventricle	heart
41	chr3:145790600-145793800	Weak transcription	Adipose Nuclei	Adipose
42	chr3:145790600-145793800	Weak transcription	Liver	Liver
43	chr3:145790800-145794200	Weak transcription	NHLF	lung
44	chr3:145791200-145794800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:145791600-145793800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:145791600-145794000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:145791600-145833800	Weak transcription	NHDF-Ad	bronchial
48	chr3:145791800-145793800	Weak transcription	Fetal Heart	heart
49	chr3:145792200-145812200	Strong transcription	HSMM	muscle
50	chr3:145792600-145795000	Strong transcription	NH-A	brain

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