Variant report

Variant	rs2251005
Chromosome Location	chr10:4101314-4101315
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4100357..4102296-chr10:4102463..4105433,2	K562	blood:
2	chr10:3825543..3829712-chr10:4097460..4102174,5	K562	blood:
3	chr10:3827232..3829993-chr10:4098770..4104169,5	MCF-7	breast:
4	chr10:4099803..4101448-chr10:4116645..4119570,2	MCF-7	breast:
5	chr10:4101159..4103691-chr10:4170864..4173275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17132103	0.92[CEU][hapmap];0.86[YRI][hapmap]
rs2645210	0.93[CEU][hapmap];0.81[TSI][hapmap];0.89[EUR][1000 genomes]
rs2645211	0.82[CEU][hapmap]
rs2765665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2935284	1.00[CEU][hapmap];0.81[GIH][hapmap];0.91[TSI][hapmap];0.98[EUR][1000 genomes]
rs2935285	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2986183	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2251005	tAKR	cis	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4094200-4103400	Weak transcription	Stomach Mucosa	stomach
2	chr10:4094400-4102000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr10:4094400-4103600	Weak transcription	Gastric	stomach
4	chr10:4094400-4109800	Weak transcription	Right Ventricle	heart
5	chr10:4099600-4102000	Weak transcription	Right Atrium	heart
6	chr10:4099600-4102000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:4099600-4102000	Weak transcription	Spleen	Spleen
8	chr10:4099600-4105400	Weak transcription	Pancreas	Pancrea
9	chr10:4099800-4102800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr10:4100000-4101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:4100200-4102000	Enhancers	Dnd41	blood
12	chr10:4100200-4103600	Weak transcription	Placenta	Placenta
13	chr10:4100600-4101400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr10:4100600-4102000	Enhancers	Fetal Intestine Large	intestine
15	chr10:4100600-4103000	Enhancers	Ovary	ovary
16	chr10:4100600-4103000	Enhancers	Small Intestine	intestine
17	chr10:4100600-4104400	Enhancers	Colon Smooth Muscle	Colon
18	chr10:4100800-4101400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:4100800-4103600	Weak transcription	Colonic Mucosa	Colon
20	chr10:4100800-4104200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr10:4100800-4104200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:4100800-4104400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:4100800-4104600	Enhancers	Primary T cells from cord blood	blood
24	chr10:4101000-4102000	Weak transcription	Aorta	Aorta
25	chr10:4101000-4102000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr10:4101000-4102000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:4101000-4103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:4101000-4103600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:4101000-4103600	Weak transcription	Esophagus	oesophagus
30	chr10:4101000-4103600	Weak transcription	Fetal Lung	lung
31	chr10:4101000-4103800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr10:4101000-4110000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:4101200-4101400	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:4101200-4101600	Weak transcription	Fetal Intestine Small	intestine
35	chr10:4101200-4102000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:4101200-4102200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:4101200-4103400	Weak transcription	Adipose Nuclei	Adipose
38	chr10:4101200-4103600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:4101200-4103600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr10:4101200-4103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr10:4101200-4103600	Weak transcription	HUVEC	blood vessel
42	chr10:4101200-4103600	Weak transcription	Osteobl	bone
43	chr10:4101200-4103800	Weak transcription	A549	lung
44	chr10:4101200-4103800	Weak transcription	Hela-S3	cervix
45	chr10:4101200-4104200	Enhancers	Primary T helper cells fromperipheralblood	blood

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