Variant report

Variant	rs1414839
Chromosome Location	chr6:140893202-140893203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1414831	0.87[EUR][1000 genomes]
rs1414832	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414833	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1414838	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1832675	0.82[EUR][1000 genomes]
rs2027195	0.88[AFR][1000 genomes]
rs2152617	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2328087	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4130447	0.82[AFR][1000 genomes]
rs55913593	0.82[EUR][1000 genomes]
rs56311753	0.81[EUR][1000 genomes]
rs62429792	0.80[EUR][1000 genomes]
rs62429830	0.82[EUR][1000 genomes]
rs62429844	0.86[EUR][1000 genomes]
rs6570402	0.82[AFR][1000 genomes]
rs6905894	0.86[AFR][1000 genomes]
rs6908769	0.81[AFR][1000 genomes]
rs6910926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6914685	0.81[AFR][1000 genomes]
rs6916580	0.82[AFR][1000 genomes]
rs7771074	0.83[AFR][1000 genomes]
rs9321777	0.81[AFR][1000 genomes]
rs9321779	0.88[AFR][1000 genomes]
rs9321780	0.82[AFR][1000 genomes]
rs9389811	0.80[AFR][1000 genomes]
rs9399329	0.82[AFR][1000 genomes]
rs9403191	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9403197	0.81[AFR][1000 genomes]
rs9403198	0.81[AFR][1000 genomes]
rs967790	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv817390	chr6:140558103-141166039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv886694	chr6:140701423-141001420	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1029179	chr6:140733884-141051309	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029847	chr6:140798377-140928132	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv538451	chr6:140798377-140928132	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1031320	chr6:140798377-141156979	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv604771	chr6:140801497-140895423	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1026042	chr6:140813667-141414842	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1034469	chr6:140818729-140908576	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1020190	chr6:140818729-140910627	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2761069	chr6:140818741-141099004	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1025422	chr6:140819415-140910627	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv869287	chr6:140826709-141407102	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
15	nsv604773	chr6:140829464-140902819	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1034376	chr6:140844320-140981566	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv521860	chr6:140849702-140911389	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1032510	chr6:140849815-140908576	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1026713	chr6:140859250-140904356	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1032561	chr6:140859250-140908576	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1033576	chr6:140859250-140910627	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1024096	chr6:140870398-140927014	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv521710	chr6:140876027-140968292	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	nsv886695	chr6:140878731-141041329	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
25	nsv886696	chr6:140878731-141045356	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
26	nsv886697	chr6:140878731-141182209	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
27	nsv886698	chr6:140878731-141194073	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
28	nsv886699	chr6:140878731-141209198	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
29	nsv830821	chr6:140890955-141060220	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1414839	UTRN	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140888400-140901000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:140888800-140893400	Weak transcription	Adipose Nuclei	Adipose
3	chr6:140891600-140894400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:140892000-140894400	Enhancers	NHDF-Ad	bronchial
5	chr6:140892000-140894400	Enhancers	Osteobl	bone
6	chr6:140892200-140894400	Enhancers	HSMM	muscle
7	chr6:140892400-140893400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:140892400-140894200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:140892400-140894200	Enhancers	NH-A	brain
10	chr6:140892400-140894400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr6:140892400-140894600	Enhancers	HUVEC	blood vessel
12	chr6:140892600-140893400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:140892600-140893800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:140892600-140894000	Enhancers	HSMMtube	muscle
15	chr6:140892800-140894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:140892800-140894000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:140892800-140894000	Enhancers	Hela-S3	cervix
18	chr6:140892800-140894200	Enhancers	NHEK	skin
19	chr6:140892800-140894400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:140893000-140894000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:140893200-140893600	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:140893200-140893600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:140893200-140893600	Enhancers	Small Intestine	intestine
24	chr6:140893200-140893600	Enhancers	Stomach Smooth Muscle	stomach
25	chr6:140893200-140894000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:140893200-140894000	Enhancers	Rectal Smooth Muscle	rectum
27	chr6:140893200-140894200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:140893200-140894200	Enhancers	Colon Smooth Muscle	Colon
29	chr6:140893200-140894200	Enhancers	HMEC	breast
30	chr6:140893200-140894400	Enhancers	NHLF	lung

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