Variant report

Variant	rs11118488
Chromosome Location	chr1:220204862-220204863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220148652..220150555-chr1:220203564..220205134,2	K562	blood:
2	chr1:220204428..220207144-chr1:220209428..220212102,2	MCF-7	breast:
3	chr1:220203019..220205513-chr1:220219483..220221542,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10399645	1.00[MEX][hapmap]
rs11800305	1.00[MEX][hapmap]
rs11807333	1.00[MEX][hapmap]
rs11811749	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057663	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059479	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12059527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060231	0.96[AFR][1000 genomes]
rs12072662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12080935	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090303	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095669	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2647471	1.00[MEX][hapmap]
rs2647472	1.00[MEX][hapmap]
rs2889877	1.00[MEX][hapmap]
rs5030751	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs6690280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702241	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73084894	0.80[AFR][1000 genomes]
rs904327	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11118488	UNC13C	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220166200-220208400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220166200-220209000	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:220166400-220206800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr1:220166800-220208400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
7	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:220169200-220206400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:220176000-220208000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:220176400-220208400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:220177600-220205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
15	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
16	chr1:220186600-220207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
18	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:220189200-220208000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:220189600-220208400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr1:220190800-220208400	Strong transcription	Liver	Liver
22	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:220192600-220206800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:220194800-220206800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
28	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
29	chr1:220195600-220205600	Weak transcription	Lung	lung
30	chr1:220196400-220205600	Weak transcription	Thymus	Thymus
31	chr1:220196400-220211600	Weak transcription	Gastric	stomach
32	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:220196600-220212200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
35	chr1:220197400-220212000	Weak transcription	Small Intestine	intestine
36	chr1:220197600-220211800	Weak transcription	Spleen	Spleen
37	chr1:220197800-220205800	Weak transcription	Brain Germinal Matrix	brain
38	chr1:220197800-220205800	Weak transcription	Psoas Muscle	Psoas
39	chr1:220198200-220206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:220200200-220212200	Strong transcription	GM12878-XiMat	blood
42	chr1:220200800-220208000	Strong transcription	Adipose Nuclei	Adipose
43	chr1:220200800-220210200	Strong transcription	Dnd41	blood
44	chr1:220201000-220206800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:220201000-220208000	Strong transcription	Osteobl	bone
46	chr1:220201000-220208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:220201000-220209200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:220201200-220205400	Weak transcription	Fetal Intestine Small	intestine
49	chr1:220201200-220208200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:220201200-220208600	Strong transcription	Primary B cells from peripheral blood	blood

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