Variant report

Variant	rs11603543
Chromosome Location	chr11:93905606-93905607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160353	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020659	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020665	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11499643	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11607757	0.87[EUR][1000 genomes]
rs12273690	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4593973	0.88[EUR][1000 genomes]
rs56157454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56175344	0.87[EUR][1000 genomes]
rs57562692	0.91[EUR][1000 genomes]
rs6483298	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7117339	0.90[EUR][1000 genomes]
rs7129505	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72970792	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	12 gene(s)	inside rSNPs	diseases
4	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv469980	chr11:93864321-93962121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv468795	chr11:93864321-93964917	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv555966	chr11:93864321-93964917	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv517664	chr11:93866147-93913036	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11603543	HEPHL1	cis	Artery Tibial	GTEx
rs11603543	HEPHL1	cis	Artery Aorta	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93883000-93906600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:93883400-93906400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:93884000-93912800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr11:93885200-93916200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:93885400-93911200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:93886000-93913000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:93886200-93910800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:93886600-93913000	Weak transcription	K562	blood
9	chr11:93886800-93912800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:93887000-93911600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr11:93887600-93907600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:93887600-93907800	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:93887600-93908200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:93887600-93908800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:93887600-93910600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:93887600-93910800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:93887600-93911600	Weak transcription	Spleen	Spleen
18	chr11:93887800-93907800	Weak transcription	HMEC	breast
19	chr11:93887800-93908000	Weak transcription	NH-A	brain
20	chr11:93887800-93910800	Weak transcription	Liver	Liver
21	chr11:93888000-93907200	Weak transcription	NHDF-Ad	bronchial
22	chr11:93889600-93908600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:93889800-93906600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:93889800-93907400	Weak transcription	Primary T cells from cord blood	blood
25	chr11:93889800-93908200	Weak transcription	NHEK	skin
26	chr11:93889800-93910800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:93889800-93911400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:93889800-93912800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:93890200-93906600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:93890200-93910800	Weak transcription	Thymus	Thymus
31	chr11:93895800-93911000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:93896000-93909400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:93896200-93911600	Weak transcription	Ovary	ovary
34	chr11:93897800-93920000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:93900000-93907400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:93900200-93910600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:93900400-93907400	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:93900400-93910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:93900400-93916000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:93900600-93905800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:93900600-93907400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:93900600-93912200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:93901200-93910800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:93901200-93911600	Weak transcription	Fetal Brain Female	brain
45	chr11:93901200-93913200	Weak transcription	Brain Substantia Nigra	brain
46	chr11:93901200-93917200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:93901400-93907400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:93901400-93908000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:93901400-93921200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:93901800-93914000	Weak transcription	Esophagus	oesophagus

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