Variant report

Variant	rs35050319
Chromosome Location	chr1:47103886-47103887
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47101531..47106665-chr1:47107497..47111745,7	K562	blood:
2	chr1:47096461..47099303-chr1:47102647..47105072,2	K562	blood:
3	chr1:47093097..47096139-chr1:47100393..47103970,3	K562	blood:
4	chr1:47089433..47091250-chr1:47102705..47105351,2	K562	blood:
5	chr1:47102903..47105171-chr1:47109988..47112496,2	K562	blood:

Variant related genes	Relation type
ENSG00000123472	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10749863	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10749864	0.93[EUR][1000 genomes]
rs10789491	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211337	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11211342	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1258061	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1371834	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1440487	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1545206	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1595898	0.81[EUR][1000 genomes]
rs1866770	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1890473	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2083485	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2099766	0.81[EUR][1000 genomes]
rs2218191	0.94[EUR][1000 genomes]
rs2476158	0.92[EUR][1000 genomes]
rs35861275	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4097354	0.93[EUR][1000 genomes]
rs4553120	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4660956	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs601060	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs618505	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6668899	0.93[ASN][1000 genomes]
rs7516616	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7547522	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1007280	chr1:47088116-47129588	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv945926	chr1:47100728-47104475	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35050319	EFCAB14	cis	Whole Blood	GTEx
rs35050319	EFCAB14	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47083200-47104600	Weak transcription	Stomach Mucosa	stomach
2	chr1:47083200-47115000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:47083400-47113200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:47088600-47108600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:47088600-47108800	Weak transcription	Hela-S3	cervix
7	chr1:47089800-47112400	Weak transcription	Small Intestine	intestine
8	chr1:47090200-47121400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:47091400-47105000	Weak transcription	HMEC	breast
10	chr1:47094200-47105800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:47094600-47105600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:47094600-47111000	Strong transcription	Fetal Muscle Trunk	muscle
13	chr1:47094600-47119200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:47095200-47107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:47095600-47104000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:47095600-47109000	Strong transcription	Placenta	Placenta
17	chr1:47095800-47104600	Weak transcription	A549	lung
18	chr1:47096600-47105800	Strong transcription	Brain Anterior Caudate	brain
19	chr1:47096800-47105600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr1:47097000-47104000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:47097000-47104000	Strong transcription	Fetal Lung	lung
22	chr1:47097000-47104000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:47097000-47105800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:47097200-47106000	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr1:47098200-47109000	Weak transcription	Esophagus	oesophagus
26	chr1:47098200-47113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:47098400-47112800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:47099600-47104000	Strong transcription	Fetal Stomach	stomach
29	chr1:47099800-47104000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:47099800-47106000	Weak transcription	K562	blood
31	chr1:47100000-47113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:47100200-47104000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:47100200-47107200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:47100800-47104000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:47101200-47109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:47101600-47104800	Weak transcription	Fetal Kidney	kidney
37	chr1:47101600-47104800	Weak transcription	HepG2	liver
38	chr1:47101600-47105000	Weak transcription	NHEK	skin
39	chr1:47101600-47108800	Weak transcription	GM12878-XiMat	blood
40	chr1:47101600-47130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:47101800-47105000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:47101800-47105000	Weak transcription	NHLF	lung
44	chr1:47101800-47107000	Weak transcription	Fetal Thymus	thymus
45	chr1:47101800-47107600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:47101800-47107800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:47101800-47108000	Weak transcription	NH-A	brain
48	chr1:47101800-47108600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:47101800-47108800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:47101800-47109000	Weak transcription	Pancreas	Pancrea

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