Variant report

Variant	rs2807982
Chromosome Location	chr10:22215860-22215861
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:22215413..22217628-chr10:22290545..22292658,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136770	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10740997	0.80[CEU][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10828283	0.85[EUR][1000 genomes]
rs1086896	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1086897	0.81[AMR][1000 genomes]
rs1086899	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11012840	0.82[EUR][1000 genomes]
rs12571634	0.84[CEU][hapmap]
rs2066270	0.83[EUR][1000 genomes]
rs2066271	0.83[EUR][1000 genomes]
rs2252343	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2457954	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2487512	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2666750	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2666753	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs2666756	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666759	0.93[ASN][1000 genomes]
rs2666760	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2666761	0.93[ASN][1000 genomes]
rs2666762	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2666769	0.83[EUR][1000 genomes]
rs2666771	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs2666775	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs2666779	0.83[EUR][1000 genomes]
rs2666781	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2666782	0.80[EUR][1000 genomes]
rs2793341	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2793351	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2793352	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807971	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs2807978	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2807979	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs2807980	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2807983	0.95[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2807984	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs2807987	0.80[CEU][hapmap]
rs2807988	0.86[CEU][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4024198	0.80[CEU][hapmap]
rs4146689	0.80[CEU][hapmap]
rs4748775	0.81[EUR][1000 genomes]
rs4748779	0.80[CEU][hapmap]
rs6650129	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6650130	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7072776	0.80[CEU][hapmap]
rs7089656	0.80[CEU][hapmap]
rs7904395	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7910002	0.91[CEU][hapmap]
rs792452	0.80[ASN][1000 genomes]
rs792455	0.84[EUR][1000 genomes]
rs792457	0.81[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	nsv1052464	chr10:21856531-22220087	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv1802317	chr10:21866085-22288132	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1793816	chr10:22088054-22285371	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048924	chr10:22177164-22296409	Enhancers Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv831808	chr10:22187850-22357814	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv894948	chr10:22203392-22255097	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2807982	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22179000-22224000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr10:22183400-22221000	Weak transcription	Left Ventricle	heart
3	chr10:22185000-22222000	Weak transcription	Right Ventricle	heart
4	chr10:22188800-22229200	Weak transcription	Aorta	Aorta
5	chr10:22193000-22224200	Weak transcription	Primary B cells from cord blood	blood
6	chr10:22193200-22216800	Weak transcription	Liver	Liver
7	chr10:22193400-22216000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:22193400-22216000	Weak transcription	K562	blood
9	chr10:22196200-22223400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:22196800-22216800	Weak transcription	Fetal Intestine Small	intestine
11	chr10:22199200-22216000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:22199600-22250800	Weak transcription	Pancreas	Pancrea
13	chr10:22202200-22216000	Weak transcription	GM12878-XiMat	blood
14	chr10:22203000-22221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:22209000-22216600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:22209000-22218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:22211200-22216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:22211200-22218000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr10:22211600-22218000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr10:22212200-22218000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:22213800-22216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:22214000-22216600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:22214200-22216800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:22214800-22216200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:22214800-22216600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:22214800-22216800	Enhancers	NHEK	skin
27	chr10:22214800-22217000	Enhancers	HMEC	breast
28	chr10:22214800-22219200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr10:22215000-22216200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:22215000-22216600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:22215000-22217200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:22215000-22218200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr10:22215000-22218600	Enhancers	Osteobl	bone
34	chr10:22215200-22216000	Weak transcription	Placenta	Placenta
35	chr10:22215200-22218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:22215200-22221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:22215400-22216200	Enhancers	NH-A	brain
38	chr10:22215400-22216800	Enhancers	Hela-S3	cervix
39	chr10:22215400-22217000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:22215400-22217000	Enhancers	NHLF	lung
41	chr10:22215600-22216400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr10:22215600-22216600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:22215600-22216800	Enhancers	Adipose Nuclei	Adipose
44	chr10:22215600-22216800	Flanking Active TSS	A549	lung
45	chr10:22215600-22216800	Enhancers	HepG2	liver
46	chr10:22215600-22217000	Enhancers	Fetal Lung	lung
47	chr10:22215600-22217000	Enhancers	HSMM	muscle
48	chr10:22215600-22217000	Enhancers	NHDF-Ad	bronchial
49	chr10:22215600-22217200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:22215600-22217200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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