Variant report

Variant	rs1462383
Chromosome Location	chr6:114150984-114150985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10214595	1.00[AMR][1000 genomes]
rs1026637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1031799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1031802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437352	1.00[AMR][1000 genomes]
rs1462380	1.00[AMR][1000 genomes]
rs1527506	1.00[AMR][1000 genomes]
rs1841744	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1903679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2018969	1.00[AMR][1000 genomes]
rs2348531	1.00[AMR][1000 genomes]
rs2615509	1.00[AMR][1000 genomes]
rs2615515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615516	1.00[AFR][1000 genomes]
rs2615517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2695453	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2753885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810181	1.00[AMR][1000 genomes]
rs2810184	1.00[AMR][1000 genomes]
rs2810185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810186	1.00[AMR][1000 genomes]
rs2810190	1.00[AMR][1000 genomes]
rs2810192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810197	1.00[AMR][1000 genomes]
rs28679593	1.00[AMR][1000 genomes]
rs352069	1.00[AMR][1000 genomes]
rs352072	1.00[AMR][1000 genomes]
rs352076	1.00[AMR][1000 genomes]
rs352088	1.00[AMR][1000 genomes]
rs352089	1.00[AMR][1000 genomes]
rs476354	1.00[AMR][1000 genomes]
rs508935	1.00[AMR][1000 genomes]
rs569246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs574054	1.00[AMR][1000 genomes]
rs612475	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6568808	1.00[AMR][1000 genomes]
rs9372378	1.00[AMR][1000 genomes]
rs9481397	1.00[AMR][1000 genomes]
rs9481399	1.00[AMR][1000 genomes]
rs9481401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481414	1.00[AMR][1000 genomes]
rs9488261	1.00[AMR][1000 genomes]
rs9488287	1.00[AMR][1000 genomes]
rs9488310	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114147400-114151000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:114147400-114151000	Weak transcription	Small Intestine	intestine
3	chr6:114147400-114154800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:114147600-114154400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:114147800-114151000	Weak transcription	Adipose Nuclei	Adipose
6	chr6:114149200-114151400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:114149600-114152200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:114149800-114151800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:114149800-114151800	Enhancers	HSMM	muscle
10	chr6:114150000-114151000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:114150000-114151200	Enhancers	Psoas Muscle	Psoas
12	chr6:114150000-114151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:114150000-114151800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:114150000-114151800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:114150200-114151200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:114150200-114151600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:114150200-114151600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:114150200-114151800	Enhancers	Fetal Intestine Small	intestine
19	chr6:114150200-114151800	Enhancers	Fetal Kidney	kidney
20	chr6:114150200-114152000	Enhancers	Fetal Intestine Large	intestine
21	chr6:114150200-114152400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr6:114150400-114151000	Enhancers	Fetal Muscle Leg	muscle
23	chr6:114150400-114151600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:114150400-114151800	Enhancers	NH-A	brain
25	chr6:114150600-114151000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:114150600-114151200	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:114150600-114151600	Enhancers	Osteobl	bone
28	chr6:114150600-114152400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:114150600-114157200	Weak transcription	Pancreas	Pancrea
30	chr6:114150800-114151000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:114150800-114151000	Flanking Active TSS	HSMMtube	muscle
32	chr6:114150800-114151200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:114150800-114151200	Enhancers	Brain Anterior Caudate	brain

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