Variant report

Variant	rs995968
Chromosome Location	chr11:16215756-16215757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16198617..16200800-chr11:16214986..16217270,2	K562	blood:
2	chr11:16215320..16217059-chr11:16240927..16242475,2	K562	blood:
3	chr11:16213165..16216422-chr11:16216965..16220387,3	K562	blood:
4	chr11:16215659..16217331-chr11:16627513..16629554,2	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10741691	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10766297	0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10766299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1455107	1.00[AMR][1000 genomes]
rs1455108	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1455110	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1455116	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2882810	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2935045	1.00[AMR][1000 genomes]
rs35350728	1.00[AMR][1000 genomes]
rs58616573	1.00[AMR][1000 genomes]
rs61095638	1.00[AMR][1000 genomes]
rs6486274	1.00[AMR][1000 genomes]
rs73417034	1.00[AMR][1000 genomes]
rs73417035	1.00[AMR][1000 genomes]
rs73417039	1.00[AMR][1000 genomes]
rs73417041	1.00[AMR][1000 genomes]
rs73417044	1.00[AMR][1000 genomes]
rs73417052	1.00[AMR][1000 genomes]
rs73417068	1.00[AMR][1000 genomes]
rs73417077	1.00[AMR][1000 genomes]
rs73417079	1.00[AMR][1000 genomes]
rs73418928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs921799	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553562	chr11:16112180-16220289	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv897012	chr11:16189326-16283644	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv553563	chr11:16206658-16259405	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv897013	chr11:16206658-16307700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv897014	chr11:16211343-16283644	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs995968	RASIP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16206800-16215800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr11:16207200-16221200	Weak transcription	Fetal Intestine Large	intestine
3	chr11:16208000-16216400	Weak transcription	A549	lung
4	chr11:16210600-16216200	Weak transcription	Right Atrium	heart
5	chr11:16212000-16217800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16213200-16217200	Weak transcription	Fetal Stomach	stomach
7	chr11:16213400-16218400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:16213600-16216200	Weak transcription	Pancreas	Pancrea
9	chr11:16213600-16217400	Weak transcription	NHLF	lung
10	chr11:16213800-16216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:16213800-16216200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:16213800-16217600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:16214000-16216200	Weak transcription	Fetal Brain Female	brain
14	chr11:16214600-16216400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr11:16214800-16216400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:16214800-16216600	Enhancers	Brain Germinal Matrix	brain
17	chr11:16214800-16216600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:16214800-16217600	Enhancers	Fetal Muscle Leg	muscle
19	chr11:16214800-16218200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:16215000-16216600	Enhancers	Brain Anterior Caudate	brain
21	chr11:16215000-16217000	Enhancers	Brain Hippocampus Middle	brain
22	chr11:16215000-16217600	Enhancers	Fetal Heart	heart
23	chr11:16215200-16216600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr11:16215200-16216600	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:16215200-16217000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:16215200-16217800	Enhancers	HepG2	liver
27	chr11:16215400-16215800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:16215400-16215800	Enhancers	Fetal Intestine Small	intestine
29	chr11:16215400-16216400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:16215400-16216400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr11:16215400-16216400	Enhancers	Psoas Muscle	Psoas
32	chr11:16215400-16216600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:16215400-16216600	Enhancers	Brain Angular Gyrus	brain
34	chr11:16215400-16217600	Enhancers	Fetal Lung	lung
35	chr11:16215400-16217600	Enhancers	Right Ventricle	heart
36	chr11:16215400-16217600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:16215400-16217800	Enhancers	NH-A	brain
38	chr11:16215400-16218000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:16215600-16215800	Enhancers	K562	blood
40	chr11:16215600-16216200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:16215600-16216200	Weak transcription	Left Ventricle	heart
42	chr11:16215600-16216600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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