Variant report

Variant	rs35335466
Chromosome Location	chr14:31839771-31839772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10147938	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12882949	0.80[EUR][1000 genomes]
rs12886167	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12886725	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12892246	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895352	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17577629	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17660791	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17660955	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181420	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2182252	0.84[EUR][1000 genomes]
rs2182253	0.85[EUR][1000 genomes]
rs34159200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34777795	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35330064	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35474202	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35628255	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35952505	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3736917	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4981832	0.90[ASN][1000 genomes]
rs4981841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61994183	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61995529	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61995554	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61996784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs727671	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs927704	0.84[EUR][1000 genomes];0.90[ASN][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	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35335466	RP11-176H8.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:31782200-31875200	Weak transcription	Gastric	stomach
3	chr14:31799800-31866800	Weak transcription	Esophagus	oesophagus
4	chr14:31800200-31839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:31801200-31883800	Weak transcription	Small Intestine	intestine
6	chr14:31801400-31862800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:31801400-31875600	Weak transcription	Brain Germinal Matrix	brain
8	chr14:31801600-31872400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:31801800-31862600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:31802400-31842800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:31802800-31872000	Weak transcription	Fetal Brain Male	brain
12	chr14:31803600-31872600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:31803800-31843600	Weak transcription	A549	lung
14	chr14:31803800-31852200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:31805600-31851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:31806200-31850800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:31808000-31872600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:31809600-31872000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:31811800-31854600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:31812200-31857400	Weak transcription	Fetal Heart	heart
21	chr14:31812800-31852400	Weak transcription	Brain Angular Gyrus	brain
22	chr14:31813200-31872800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:31814600-31849200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr14:31816000-31888800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:31824600-31846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:31825400-31840800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:31825400-31847200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:31825600-31840800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:31825600-31841000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:31825600-31872800	Weak transcription	Fetal Kidney	kidney
31	chr14:31825600-31878600	Weak transcription	Pancreas	Pancrea
32	chr14:31825800-31843600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:31825800-31860200	Weak transcription	Psoas Muscle	Psoas
34	chr14:31826600-31840600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:31826600-31847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:31827000-31840800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr14:31827000-31841000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr14:31827000-31847200	Strong transcription	Adipose Nuclei	Adipose
39	chr14:31827400-31843400	Weak transcription	Right Ventricle	heart
40	chr14:31827400-31847400	Weak transcription	NHLF	lung
41	chr14:31827400-31874400	Weak transcription	Spleen	Spleen
42	chr14:31827600-31846400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:31828000-31866800	Weak transcription	Colonic Mucosa	Colon
44	chr14:31828200-31852600	Weak transcription	Fetal Brain Female	brain
45	chr14:31828400-31844000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:31828400-31849000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr14:31830200-31842400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:31830400-31842200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr14:31830600-31862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:31831000-31840000	Weak transcription	HUVEC	blood vessel

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