Variant report

Variant	rs12128042
Chromosome Location	chr1:91805007-91805008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12125586	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12129120	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12129878	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142604	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12144808	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17131428	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs17556716	0.90[EUR][1000 genomes]
rs41286785	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60719104	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72726278	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72726302	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv3409917	chr1:91801864-91806862	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
6	chr1:91795600-91808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:91795600-91824200	Weak transcription	Left Ventricle	heart
8	chr1:91796800-91807800	Weak transcription	Fetal Brain Male	brain
9	chr1:91798800-91805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:91800400-91810800	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:91802800-91805200	Weak transcription	Right Atrium	heart
12	chr1:91802800-91810800	Weak transcription	Fetal Kidney	kidney
13	chr1:91803200-91805200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:91803600-91810800	Weak transcription	Fetal Lung	lung
15	chr1:91803800-91809200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:91804000-91816800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:91804400-91806000	Weak transcription	Right Ventricle	heart
18	chr1:91804400-91824200	Weak transcription	Ovary	ovary
19	chr1:91804400-91824200	Weak transcription	Pancreas	Pancrea
20	chr1:91804600-91809600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:91804600-91819600	Weak transcription	Fetal Brain Female	brain
22	chr1:91804600-91820400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:91804800-91806000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:91804800-91815600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:91804800-91817000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:91804800-91824200	Weak transcription	Fetal Stomach	stomach
27	chr1:91804800-91824200	Weak transcription	Stomach Smooth Muscle	stomach

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