Variant report

Variant	rs36052669
Chromosome Location	chr7:39170513-39170514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10234560	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10237781	0.81[EUR][1000 genomes]
rs10244167	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12668821	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12672089	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12701692	0.91[ASN][1000 genomes]
rs1525799	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2280667	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34866559	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4355688	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723824	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723825	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4723828	0.81[EUR][1000 genomes]
rs6952466	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9639812	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][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	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887968	chr7:39123165-39198960	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830968	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv428163	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39169800-39171200	Active TSS	Duodenum Mucosa	Duodenum
2	chr7:39169800-39171200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:39170000-39170600	Enhancers	Fetal Kidney	kidney
4	chr7:39170000-39171000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:39170000-39171200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:39170000-39171200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:39170200-39170600	Active TSS	Liver	Liver
8	chr7:39170200-39170800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:39170200-39170800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:39170200-39171000	Active TSS	Thymus	Thymus
11	chr7:39170400-39170600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:39170400-39170600	Flanking Active TSS	Fetal Brain Female	brain
13	chr7:39170400-39170600	Flanking Active TSS	Psoas Muscle	Psoas
14	chr7:39170400-39170600	Bivalent/Poised TSS	HepG2	liver
15	chr7:39170400-39170800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:39170400-39170800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:39170400-39170800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr7:39170400-39170800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:39170400-39170800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr7:39170400-39170800	Enhancers	Adipose Nuclei	Adipose
21	chr7:39170400-39170800	Active TSS	Brain Germinal Matrix	brain
22	chr7:39170400-39170800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr7:39170400-39170800	Active TSS	Rectal Smooth Muscle	rectum
24	chr7:39170400-39170800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr7:39170400-39170800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr7:39170400-39171000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:39170400-39171000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:39170400-39171000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:39170400-39171000	Enhancers	Lung	lung
30	chr7:39170400-39171000	Active TSS	Pancreas	Pancrea
31	chr7:39170400-39171000	Active TSS	Right Ventricle	heart
32	chr7:39170400-39171200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:39170400-39171200	Active TSS	Brain Angular Gyrus	brain
34	chr7:39170400-39171200	Active TSS	Brain Anterior Caudate	brain
35	chr7:39170400-39171200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:39170400-39171200	Active TSS	Fetal Intestine Large	intestine
37	chr7:39170400-39171200	Active TSS	Fetal Intestine Small	intestine
38	chr7:39170400-39171200	Enhancers	Fetal Muscle Trunk	muscle
39	chr7:39170400-39171200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr7:39170400-39171200	Enhancers	Ovary	ovary
41	chr7:39170400-39171400	Active TSS	Primary hematopoietic stem cells	blood

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