Variant report

Variant	rs17434886
Chromosome Location	chr2:10534375-10534376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10526878..10529876-chr2:10534298..10536565,2	K562	blood:
2	chr2:10533744..10537127-chr2:10539374..10542865,3	K562	blood:
3	chr2:10273219..10275582-chr2:10534083..10536706,2	K562	blood:
4	chr2:10531886..10534694-chr2:10548127..10550273,2	K562	blood:
5	chr2:10259992..10262891-chr2:10534313..10536956,3	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11694643	0.90[ASN][1000 genomes]
rs13383055	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs13383253	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs2270303	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3755261	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3755262	0.88[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3771123	0.90[ASN][1000 genomes]
rs3771126	0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3771135	0.88[ASN][1000 genomes]
rs3771144	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3771145	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771146	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3821200	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55961729	0.86[ASN][1000 genomes]
rs56156675	0.86[ASN][1000 genomes]
rs56382508	0.86[ASN][1000 genomes]
rs62128251	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62128254	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62130179	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62130183	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62130187	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62130191	0.86[ASN][1000 genomes]
rs7579181	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7599203	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603265	0.90[ASN][1000 genomes]
rs7603352	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7608670	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs9917369	0.80[JPT][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873641	chr2:10480415-10544640	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10518000-10534800	Enhancers	Stomach Mucosa	stomach
2	chr2:10523000-10541000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:10523400-10537800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:10523600-10539000	Weak transcription	Thymus	Thymus
5	chr2:10524800-10536200	Weak transcription	Primary T cells from cord blood	blood
6	chr2:10526800-10537400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:10527200-10542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:10527600-10536200	Weak transcription	Fetal Stomach	stomach
9	chr2:10530000-10540800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:10530200-10536000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:10530400-10537600	Weak transcription	Psoas Muscle	Psoas
12	chr2:10530400-10538800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:10530400-10540800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:10530600-10539800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:10530600-10544400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:10531000-10534400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:10531000-10536000	Weak transcription	GM12878-XiMat	blood
18	chr2:10531000-10539800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:10531000-10540600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:10531000-10542400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:10531000-10544600	Weak transcription	NHLF	lung
22	chr2:10531200-10534800	Enhancers	Hela-S3	cervix
23	chr2:10531200-10539800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:10531200-10542400	Weak transcription	HSMMtube	muscle
25	chr2:10531200-10542400	Weak transcription	NH-A	brain
26	chr2:10531200-10544200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:10531400-10539800	Weak transcription	HSMM	muscle
28	chr2:10531400-10541600	Weak transcription	Osteobl	bone
29	chr2:10532200-10534400	Enhancers	Spleen	Spleen
30	chr2:10532200-10534800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:10532200-10534800	Enhancers	Lung	lung
32	chr2:10532800-10534600	Enhancers	Placenta	Placenta
33	chr2:10532800-10537800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr2:10533000-10540200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:10533000-10551800	Weak transcription	Ovary	ovary
36	chr2:10533400-10534600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:10533400-10549200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:10533600-10535000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:10533600-10536800	Weak transcription	Primary B cells from cord blood	blood
40	chr2:10533600-10537000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:10533600-10537000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:10533600-10538400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:10533600-10539800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:10533600-10539800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:10533600-10544200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:10533600-10544200	Weak transcription	Fetal Brain Female	brain
47	chr2:10533800-10535800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:10533800-10536000	Weak transcription	Gastric	stomach
49	chr2:10533800-10536200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:10533800-10536200	Weak transcription	Right Ventricle	heart

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