Variant report

Variant	rs60410511
Chromosome Location	chr13:49084944-49084945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs4151562	1.00[AMR][1000 genomes]
rs4151582	1.00[AMR][1000 genomes]
rs4151594	1.00[AMR][1000 genomes]
rs55816660	1.00[AMR][1000 genomes]
rs55926808	1.00[AMR][1000 genomes]
rs55946851	0.86[AFR][1000 genomes]
rs56948396	1.00[AMR][1000 genomes]
rs57910291	0.93[AFR][1000 genomes]
rs60646582	0.87[AFR][1000 genomes]
rs61257669	1.00[AMR][1000 genomes]
rs7330657	1.00[AMR][1000 genomes]
rs7337289	1.00[AMR][1000 genomes]
rs7337391	0.87[AFR][1000 genomes]
rs74074903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074955	0.84[AFR][1000 genomes]
rs74075996	1.00[AMR][1000 genomes]
rs74077619	1.00[AMR][1000 genomes]
rs74077637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077639	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077645	1.00[AMR][1000 genomes]
rs74077646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999469	1.00[AMR][1000 genomes]
rs9331982	1.00[AMR][1000 genomes]
rs9331989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331995	0.82[AFR][1000 genomes]
rs9332011	0.86[AFR][1000 genomes];1.00[AMR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
6	chr13:49068000-49105600	Weak transcription	Gastric	stomach
7	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
9	chr13:49071800-49086200	Strong transcription	Fetal Stomach	stomach
10	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:49072200-49085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:49073200-49085800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:49073600-49087800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:49075400-49085800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:49075600-49093400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:49075600-49095200	Weak transcription	Fetal Intestine Large	intestine
19	chr13:49075800-49086000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:49075800-49088400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:49075800-49093200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:49076000-49085800	Weak transcription	Fetal Kidney	kidney
23	chr13:49076600-49097400	Weak transcription	Pancreas	Pancrea
24	chr13:49077000-49085800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:49079600-49091000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:49079600-49092200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:49080400-49085800	Weak transcription	Psoas Muscle	Psoas
28	chr13:49080600-49085600	Weak transcription	Aorta	Aorta
29	chr13:49080600-49085800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr13:49080600-49087800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:49080800-49085800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:49080800-49086200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:49080800-49087400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:49080800-49102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr13:49081000-49085600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:49081000-49085800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr13:49081000-49085800	Weak transcription	HSMMtube	muscle
40	chr13:49081000-49090200	Weak transcription	HSMM	muscle
41	chr13:49081400-49085800	Weak transcription	Brain Angular Gyrus	brain
42	chr13:49081400-49085800	Weak transcription	Brain Hippocampus Middle	brain
43	chr13:49081400-49085800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr13:49081400-49085800	Strong transcription	Fetal Muscle Leg	muscle
45	chr13:49081400-49085800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:49081400-49085800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr13:49081400-49088600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
49	chr13:49081600-49085600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:49081600-49085800	Weak transcription	Right Atrium	heart

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