Variant report

Variant	rs821738
Chromosome Location	chr5:111666543-111666544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111664622..111667062-chr5:111669246..111671249,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10072705	1.00[CHB][hapmap]
rs10463433	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs11241160	0.84[EUR][1000 genomes]
rs12187589	0.83[EUR][1000 genomes]
rs12187787	0.86[CEU][hapmap]
rs12187850	0.93[CEU][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1524425	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs1554624	0.93[CEU][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17134319	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs17134321	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17134327	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs17134348	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs17134357	0.92[ASN][1000 genomes]
rs17134381	1.00[CHB][hapmap]
rs17271934	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs17345175	0.85[CEU][hapmap]
rs1896620	0.99[EUR][1000 genomes]
rs1896621	0.98[EUR][1000 genomes]
rs55637388	0.87[EUR][1000 genomes]
rs55639430	0.87[EUR][1000 genomes]
rs55796748	0.87[EUR][1000 genomes]
rs55845736	0.84[EUR][1000 genomes]
rs56108405	0.87[EUR][1000 genomes]
rs56293447	0.98[EUR][1000 genomes]
rs56307310	0.83[EUR][1000 genomes]
rs57428532	0.87[EUR][1000 genomes]
rs61061658	0.99[EUR][1000 genomes]
rs6594588	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6594590	1.00[CHB][hapmap]
rs66521031	0.82[EUR][1000 genomes]
rs66892745	0.87[EUR][1000 genomes]
rs67033649	0.83[EUR][1000 genomes]
rs67586008	0.87[EUR][1000 genomes]
rs6878117	0.86[CEU][hapmap]
rs6894036	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs6894358	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72781655	0.87[EUR][1000 genomes]
rs72781664	0.87[EUR][1000 genomes]
rs72781668	0.87[EUR][1000 genomes]
rs72781676	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72781677	0.87[EUR][1000 genomes]
rs72781678	0.87[EUR][1000 genomes]
rs72783609	0.83[EUR][1000 genomes]
rs7703875	0.84[ASN][1000 genomes]
rs7714258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7716246	1.00[CHB][hapmap]
rs7716394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs7722291	0.98[EUR][1000 genomes]
rs7723364	0.84[ASN][1000 genomes]
rs7737622	1.00[CHB][hapmap]
rs821736	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs821739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821746	0.93[CEU][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs821749	0.93[CEU][hapmap];0.88[EUR][1000 genomes]
rs999243	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1021530	chr5:111626266-111683317	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1028181	chr5:111628901-111683317	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv882714	chr5:111655382-111807579	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs821738	EPB41L4A	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111652800-111666800	Weak transcription	Right Ventricle	heart
3	chr5:111652800-111667000	Weak transcription	Esophagus	oesophagus
4	chr5:111653200-111674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:111658600-111666800	Weak transcription	Left Ventricle	heart
6	chr5:111659200-111668800	Weak transcription	Pancreas	Pancrea
7	chr5:111661400-111669000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:111664200-111669000	Enhancers	Fetal Heart	heart
9	chr5:111665400-111667200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:111665400-111667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:111665400-111668800	Enhancers	HUVEC	blood vessel
12	chr5:111665400-111670600	Weak transcription	Hela-S3	cervix
13	chr5:111665400-111674600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:111665600-111667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:111665600-111667000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:111665600-111667000	Weak transcription	Gastric	stomach
17	chr5:111665600-111667200	Weak transcription	Right Atrium	heart
18	chr5:111665600-111668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:111665600-111668600	Weak transcription	Fetal Brain Female	brain
20	chr5:111665600-111668800	Weak transcription	Fetal Lung	lung
21	chr5:111665600-111669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:111665600-111669000	Weak transcription	Fetal Kidney	kidney
23	chr5:111665600-111669200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:111665600-111674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:111665800-111667200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:111665800-111668400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:111665800-111668800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:111665800-111668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:111665800-111669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:111666000-111667400	Weak transcription	Adipose Nuclei	Adipose
31	chr5:111666000-111667400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:111666000-111668600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:111666000-111668600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:111666000-111669000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:111666000-111669800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:111666200-111667400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:111666200-111667600	Enhancers	Lung	lung
38	chr5:111666200-111668400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:111666200-111668600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:111666400-111668800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links