Variant report

Variant	rs34016595
Chromosome Location	chr7:56007576-56007577
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10229446	0.92[ASN][1000 genomes]
rs10245725	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10250964	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10252442	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10266902	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10271662	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10272406	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10435504	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11765531	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11765577	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2135116	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28636652	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28678267	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28828764	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35844144	0.94[ASN][1000 genomes]
rs4470984	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4535700	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4543497	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4689	0.92[ASN][1000 genomes]
rs4947533	0.89[ASN][1000 genomes]
rs4948096	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4948097	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4948099	0.90[ASN][1000 genomes]
rs57153841	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57251705	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60517461	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6593292	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6593294	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs66528253	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6943341	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6954499	0.90[ASN][1000 genomes]
rs73132854	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73132897	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73360358	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73360359	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7800001	0.89[ASN][1000 genomes]
rs9642405	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
8	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56003200-56007800	ZNF genes & repeats	Fetal Lung	lung
2	chr7:56004000-56007600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr7:56004000-56007800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr7:56004000-56008400	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr7:56004000-56009400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr7:56004000-56009400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:56004000-56010600	ZNF genes & repeats	Liver	Liver
8	chr7:56005600-56007800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:56005800-56008600	ZNF genes & repeats	Fetal Brain Female	brain
10	chr7:56006000-56007600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:56006000-56007600	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr7:56006000-56007600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
13	chr7:56006000-56007800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:56006000-56007800	Weak transcription	Fetal Stomach	stomach
15	chr7:56006200-56007600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:56006200-56007600	ZNF genes & repeats	Aorta	Aorta
17	chr7:56006200-56007600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:56006200-56007600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr7:56006200-56007800	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr7:56006200-56007800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
21	chr7:56006200-56007800	ZNF genes & repeats	Ovary	ovary
22	chr7:56006200-56008400	ZNF genes & repeats	Left Ventricle	heart
23	chr7:56006400-56007600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:56006400-56007600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr7:56006400-56008400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr7:56006600-56007800	ZNF genes & repeats	Brain Substantia Nigra	brain
27	chr7:56006800-56007600	ZNF genes & repeats	Brain Angular Gyrus	brain
28	chr7:56006800-56007600	ZNF genes & repeats	Fetal Heart	heart
29	chr7:56006800-56007600	ZNF genes & repeats	Fetal Kidney	kidney
30	chr7:56006800-56007600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr7:56006800-56007800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:56006800-56007800	ZNF genes & repeats	Fetal Brain Male	brain
33	chr7:56007000-56007600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr7:56007000-56007600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:56007000-56007600	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr7:56007000-56007600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr7:56007000-56007800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr7:56007200-56007600	ZNF genes & repeats	Colon Smooth Muscle	Colon
39	chr7:56007200-56008400	ZNF genes & repeats	Fetal Muscle Leg	muscle

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