Variant report

Variant	rs11163998
Chromosome Location	chr1:84995056-84995057
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84944848..84947822-chr1:84994822..84997478,2	K562	blood:
2	chr1:84993653..84995559-chr1:84998867..85001554,3	K562	blood:

Variant related genes	Relation type
ENSG00000117133	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10874450	0.95[YRI][hapmap]
rs11163977	1.00[YRI][hapmap]
rs11163983	1.00[YRI][hapmap]
rs11163995	1.00[YRI][hapmap]
rs11164002	1.00[EUR][1000 genomes]
rs11164013	1.00[EUR][1000 genomes]
rs11164022	1.00[EUR][1000 genomes]
rs11164024	1.00[EUR][1000 genomes]
rs11164025	1.00[EUR][1000 genomes]
rs12058889	1.00[EUR][1000 genomes]
rs12058978	1.00[EUR][1000 genomes]
rs12059657	1.00[EUR][1000 genomes]
rs12067077	0.91[YRI][hapmap]
rs12068340	1.00[EUR][1000 genomes]
rs12070049	1.00[EUR][1000 genomes]
rs12075688	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076236	1.00[EUR][1000 genomes]
rs12077315	1.00[EUR][1000 genomes]
rs12080425	1.00[EUR][1000 genomes]
rs12084716	1.00[EUR][1000 genomes]
rs12091312	1.00[EUR][1000 genomes]
rs12092371	0.95[AFR][1000 genomes]
rs12092806	1.00[EUR][1000 genomes]
rs12093770	1.00[EUR][1000 genomes]
rs12095492	1.00[EUR][1000 genomes]
rs12095537	1.00[EUR][1000 genomes]
rs12096153	1.00[EUR][1000 genomes]
rs12097619	1.00[EUR][1000 genomes]
rs12141175	1.00[YRI][hapmap]
rs1803276	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28667025	1.00[EUR][1000 genomes]
rs28706082	1.00[EUR][1000 genomes]
rs2945131	1.00[EUR][1000 genomes]
rs2945132	1.00[EUR][1000 genomes]
rs2994926	1.00[EUR][1000 genomes]
rs2994927	1.00[EUR][1000 genomes]
rs6665333	1.00[EUR][1000 genomes]
rs6669324	1.00[EUR][1000 genomes]
rs72950312	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74096103	1.00[EUR][1000 genomes]
rs74098423	1.00[EUR][1000 genomes]
rs74098426	1.00[EUR][1000 genomes]
rs74098430	1.00[EUR][1000 genomes]
rs74098441	1.00[EUR][1000 genomes]
rs74098442	1.00[EUR][1000 genomes]
rs74098443	1.00[EUR][1000 genomes]
rs74098453	1.00[EUR][1000 genomes]
rs74098454	1.00[EUR][1000 genomes]
rs7532040	1.00[EUR][1000 genomes]
rs7544392	1.00[EUR][1000 genomes]
rs9661833	1.00[EUR][1000 genomes]

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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv946025	chr1:84994569-84999424	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84973000-85003200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:84973200-85003200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:84973400-84995200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:84973400-85002000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:84975200-85019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84975800-85030200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:84981600-85012200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:84982400-85026800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:84987000-85003200	Weak transcription	Left Ventricle	heart
10	chr1:84988200-85020600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:84991000-85034200	Weak transcription	Esophagus	oesophagus
12	chr1:84991000-85038200	Weak transcription	Thymus	Thymus
13	chr1:84991800-85026800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:84992000-85003200	Weak transcription	GM12878-XiMat	blood
15	chr1:84992000-85003400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:84992200-85003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:84992200-85026000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:84992400-85019400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:84992600-85005600	Weak transcription	Osteobl	bone
21	chr1:84992600-85021200	Weak transcription	NHDF-Ad	bronchial
22	chr1:84993200-85025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:84993400-85025800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr1:84993400-85027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:84993600-85026800	Weak transcription	HSMM	muscle
26	chr1:84993800-84995400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:84994000-84998800	Weak transcription	Spleen	Spleen
28	chr1:84994000-85026600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:84994600-84996200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:84994600-85001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:84994600-85003000	Weak transcription	Primary B cells from cord blood	blood
32	chr1:84994600-85003400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:84994600-85003400	Weak transcription	Liver	Liver
34	chr1:84994600-85008000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:84994800-85008600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:84995000-85028600	Weak transcription	Fetal Intestine Large	intestine

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