Variant report

Variant	rs1138800
Chromosome Location	chr11:93862493-93862494
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93861851..93862593-chr17:41463845..41464835,2	Hela-S3	cervix:
2	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
3	chr11:93724420..93726827-chr11:93860849..93862959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000255995	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10437575	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10831167	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12222234	0.80[AMR][1000 genomes]
rs1829373	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2139093	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2949857	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2949858	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2949863	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3020010	0.82[AMR][1000 genomes]
rs3020011	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs35779256	0.80[AMR][1000 genomes]
rs4073615	0.92[CEU][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4269880	0.81[AMR][1000 genomes]
rs4396251	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4463817	0.80[AMR][1000 genomes]
rs4531426	0.82[AMR][1000 genomes]
rs4753535	0.81[AMR][1000 genomes]
rs4753541	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4753543	0.82[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6483290	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6483293	0.92[CEU][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66700729	0.87[EUR][1000 genomes]
rs7105544	0.89[EUR][1000 genomes]
rs7108501	0.80[AMR][1000 genomes]
rs7119039	0.81[AMR][1000 genomes]
rs7926331	0.84[AMR][1000 genomes]
rs7927016	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	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
7	esv989619	chr11:93861937-93872912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1138800	PANX1	cis	parietal	SCAN
rs1138800	HEPHL1	cis	Thyroid	GTEx
rs1138800	PANX1	cis	cerebellum	SCAN
rs1138800	MRE11A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93860800-93863200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:93861000-93862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:93861000-93863200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93861000-93863200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr11:93861000-93863200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:93861000-93863400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:93861000-93863600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:93861000-93863600	Active TSS	A549	lung
9	chr11:93861200-93862600	Active TSS	Thymus	Thymus
10	chr11:93861200-93862800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:93861200-93863000	Active TSS	Right Atrium	heart
12	chr11:93861200-93863200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:93861200-93863200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:93861200-93863200	Active TSS	Ovary	ovary
15	chr11:93861200-93863200	Active TSS	Right Ventricle	heart
16	chr11:93861200-93863200	Active TSS	NHDF-Ad	bronchial
17	chr11:93861200-93863600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:93861200-93863600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr11:93861200-93863600	Active TSS	Psoas Muscle	Psoas
20	chr11:93861200-93864400	Active TSS	Aorta	Aorta
21	chr11:93861400-93862600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:93861400-93862600	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:93861400-93862600	Active TSS	Spleen	Spleen
24	chr11:93861400-93862800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:93861400-93862800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:93861400-93862800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:93861400-93862800	Active TSS	Brain Anterior Caudate	brain
28	chr11:93861400-93862800	Active TSS	Brain Substantia Nigra	brain
29	chr11:93861400-93862800	Active TSS	Fetal Intestine Large	intestine
30	chr11:93861400-93862800	Active TSS	Fetal Lung	lung
31	chr11:93861400-93863000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr11:93861400-93863000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:93861400-93863000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:93861400-93863000	Active TSS	Fetal Kidney	kidney
35	chr11:93861400-93863000	Active TSS	Rectal Smooth Muscle	rectum
36	chr11:93861400-93863000	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr11:93861400-93863000	Active TSS	Small Intestine	intestine
38	chr11:93861400-93863200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:93861400-93863200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:93861400-93863200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr11:93861400-93863200	Active TSS	Gastric	stomach
42	chr11:93861400-93863400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr11:93861400-93863400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr11:93861400-93863400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:93861400-93863400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:93861400-93863600	Active TSS	HSMM	muscle
47	chr11:93861400-93863800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:93861400-93863800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:93861400-93863800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:93861400-93864000	Active TSS	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links