Variant report

Variant	rs34280066
Chromosome Location	chr7:145814631-145814632
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12703770	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13223353	0.96[EUR][1000 genomes]
rs1526072	0.90[ASN][1000 genomes]
rs2140950	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28564084	0.90[ASN][1000 genomes]
rs34038575	0.90[ASN][1000 genomes]
rs34053851	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34276665	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35018596	0.96[EUR][1000 genomes]
rs35273012	0.96[EUR][1000 genomes]
rs35491208	0.96[EUR][1000 genomes]
rs36018030	0.96[EUR][1000 genomes]
rs67123143	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67518892	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67548137	0.96[EUR][1000 genomes]
rs68099112	0.96[EUR][1000 genomes]
rs73160680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7795024	0.90[ASN][1000 genomes]
rs7805261	0.90[ASN][1000 genomes]
rs959411	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1023861	chr7:145606069-145910049	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv539170	chr7:145606069-145910049	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1020950	chr7:145683419-146264304	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv981604	chr7:145773003-145935052	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv608927	chr7:145803095-145882001	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv817332	chr7:145811034-145829299	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145812200-145815200	Active TSS	Brain Angular Gyrus	brain
2	chr7:145812400-145815200	Active TSS	Fetal Brain Female	brain
3	chr7:145812800-145814800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
4	chr7:145812800-145815000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:145812800-145815400	Active TSS	Brain Germinal Matrix	brain
6	chr7:145812800-145815400	Active TSS	Fetal Kidney	kidney
7	chr7:145814000-145814800	Flanking Active TSS	Fetal Brain Male	brain
8	chr7:145814000-145815000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:145814200-145814800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:145814200-145814800	Bivalent/Poised TSS	Fetal Lung	lung
11	chr7:145814200-145815400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:145814400-145814800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr7:145814400-145814800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:145814400-145815000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:145814400-145815000	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr7:145814400-145815000	Active TSS	Fetal Muscle Leg	muscle
17	chr7:145814400-145815200	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:145814400-145815200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr7:145814400-145815400	Active TSS	Brain Anterior Caudate	brain
20	chr7:145814400-145815400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:145814600-145814800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:145814600-145814800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr7:145814600-145814800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr7:145814600-145815000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:145814600-145815000	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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