Variant report

Variant	rs2808026
Chromosome Location	chr1:220332876-220332877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220326376..220329361-chr1:220330815..220332940,2	MCF-7	breast:
2	chr1:220332088..220333949-chr1:220340621..220342512,2	K562	blood:
3	chr1:220327833..220330003-chr1:220331080..220333776,2	MCF-7	breast:
4	chr1:220331390..220335000-chr1:220342919..220345374,3	K562	blood:
5	chr1:220327602..220329309-chr1:220332621..220334178,2	K562	blood:

Variant related genes	Relation type
ENSG00000118873	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1465816	0.80[TSI][hapmap]
rs2004080	0.83[EUR][1000 genomes]
rs2577130	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2789788	0.87[ASW][hapmap];0.87[CEU][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs2789789	0.87[ASW][hapmap];0.87[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs2789792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808022	0.82[CEU][hapmap];0.80[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2808026	LYPLAL1	cis	cerebellum	SCAN
rs2808026	MOSC1	cis	cerebellum	SCAN
rs2808026	C1orf115	cis	lymphoblastoid	seeQTL
rs2808026	BPNT1	cis	cerebellum	SCAN
rs2808026	MOSC2	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220298800-220334600	Strong transcription	Fetal Thymus	thymus
2	chr1:220304800-220335600	Strong transcription	Placenta	Placenta
3	chr1:220305400-220347000	Strong transcription	Dnd41	blood
4	chr1:220305400-220376600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:220305600-220347600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:220305800-220347000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:220306600-220336600	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:220306600-220346600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:220306600-220348200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:220308400-220339600	Weak transcription	Psoas Muscle	Psoas
11	chr1:220311200-220343400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:220311600-220335000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:220312200-220347400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:220318600-220335400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:220319000-220341400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:220320400-220341800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:220320600-220336600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:220322800-220334600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:220323000-220335000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:220323000-220341000	Strong transcription	HSMM	muscle
21	chr1:220323200-220334800	Strong transcription	NH-A	brain
22	chr1:220323200-220335000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:220323400-220333800	Strong transcription	Fetal Stomach	stomach
24	chr1:220323800-220333200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr1:220323800-220336600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:220323800-220348000	Strong transcription	Primary B cells from cord blood	blood
27	chr1:220324000-220334800	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:220324000-220335800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:220324000-220347000	Strong transcription	HMEC	breast
30	chr1:220324600-220335200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:220325000-220398400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:220325200-220335600	Strong transcription	Osteobl	bone
33	chr1:220325400-220334800	Strong transcription	Liver	Liver
34	chr1:220325400-220335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:220325400-220343800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:220325400-220347000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:220325400-220356000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:220326000-220333000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:220327200-220333000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:220327600-220333000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr1:220328000-220339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:220328000-220339800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:220328000-220339800	Weak transcription	Colonic Mucosa	Colon
44	chr1:220328800-220333800	Weak transcription	Fetal Kidney	kidney
45	chr1:220330200-220334000	Weak transcription	Brain Substantia Nigra	brain
46	chr1:220330200-220345000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:220330600-220334000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:220330600-220339800	Weak transcription	Pancreas	Pancrea
49	chr1:220330600-220363600	Weak transcription	Fetal Brain Male	brain
50	chr1:220330800-220333400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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