Variant report

Variant	rs74093626
Chromosome Location	chr13:67408630-67408631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020228	1.00[EUR][1000 genomes]
rs1348217	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1441999	1.00[EUR][1000 genomes]
rs17081688	1.00[EUR][1000 genomes]
rs17081862	1.00[EUR][1000 genomes]
rs17081874	1.00[EUR][1000 genomes]
rs17081878	1.00[EUR][1000 genomes]
rs17081881	1.00[EUR][1000 genomes]
rs17081895	1.00[EUR][1000 genomes]
rs17081969	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56184220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57325770	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59086589	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60134261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7322659	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093623	1.00[EUR][1000 genomes]
rs74093625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7983331	1.00[EUR][1000 genomes]
rs7989069	1.00[EUR][1000 genomes]
rs7990627	1.00[EUR][1000 genomes]
rs8000445	1.00[EUR][1000 genomes]
rs973324	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041133	chr13:66723731-67530595	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv530605	chr13:67126136-67697306	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1035741	chr13:67212973-68077950	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541817	chr13:67212973-68077950	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1042768	chr13:67276493-67416565	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv523360	chr13:67322714-67520344	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1051576	chr13:67322747-67520255	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv900405	chr13:67347245-67446835	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1042756	chr13:67352439-67445867	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv430580	chr13:67352439-67468100	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv562136	chr13:67355618-67485147	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1051623	chr13:67377549-67465276	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv455933	chr13:67392298-67437316	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv562137	chr13:67392298-67437316	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67405600-67409000	Weak transcription	Fetal Kidney	kidney
2	chr13:67405800-67409000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:67406000-67408800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:67406000-67409200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:67406000-67409200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:67406200-67408800	Weak transcription	A549	lung
7	chr13:67406200-67409000	Weak transcription	Brain Angular Gyrus	brain
8	chr13:67408400-67409000	Enhancers	Brain Anterior Caudate	brain
9	chr13:67408400-67409200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr13:67408400-67409400	Enhancers	Left Ventricle	heart
11	chr13:67408400-67409600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:67408400-67409600	Enhancers	Fetal Muscle Trunk	muscle
13	chr13:67408400-67409600	Enhancers	Fetal Muscle Leg	muscle
14	chr13:67408400-67409800	Enhancers	Brain Cingulate Gyrus	brain
15	chr13:67408400-67410000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr13:67408600-67409000	Enhancers	Brain Germinal Matrix	brain
17	chr13:67408600-67409000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr13:67408600-67409400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:67408600-67409400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr13:67408600-67409800	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr13:67408600-67411600	Enhancers	Brain Substantia Nigra	brain

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