Variant report

Variant	rs2050447
Chromosome Location	chr10:26730316-26730317
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26728384..26731035-chr10:26984963..26987025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148459	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1001882	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10047274	0.86[CHB][hapmap]
rs10047359	0.83[CHB][hapmap]
rs10047360	0.83[CHB][hapmap]
rs10764613	0.81[CHB][hapmap]
rs10764616	0.86[CHB][hapmap]
rs10764620	0.89[CHB][hapmap]
rs10828989	0.91[EUR][1000 genomes]
rs10828994	0.83[CHB][hapmap]
rs10829005	0.83[CHB][hapmap]
rs10829007	0.83[CHB][hapmap]
rs11015113	0.83[CHB][hapmap]
rs11015118	0.83[CHB][hapmap]
rs11015119	0.86[CHB][hapmap]
rs11015122	0.82[CHB][hapmap]
rs12243470	0.82[CHB][hapmap]
rs1360844	0.83[CHB][hapmap]
rs1537748	0.83[CHB][hapmap]
rs1537749	0.83[CHB][hapmap]
rs17529213	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2065753	0.83[CHB][hapmap]
rs2281	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992257	0.94[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2992258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2992264	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992265	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2992297	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2992298	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2992326	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2992327	0.94[EUR][1000 genomes]
rs3006785	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3006803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006804	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[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]
rs3006805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3006809	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006812	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3006814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3006817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3006820	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3006822	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3006824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3006833	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3920764	0.83[CHB][hapmap]
rs4275518	0.86[CHB][hapmap]
rs4354610	0.81[CHB][hapmap]
rs4747564	0.83[CHB][hapmap]
rs4747565	0.83[CHB][hapmap]
rs4749132	0.82[CHB][hapmap]
rs4749134	0.83[CHB][hapmap]
rs4749141	0.83[CHB][hapmap]
rs4749147	0.82[CHB][hapmap]
rs703003	0.86[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs703007	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7100078	0.83[CHB][hapmap]
rs7901931	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs871367	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs945291	0.83[CHB][hapmap]
rs947720	0.83[CHB][hapmap]
rs947721	0.81[CHB][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	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1043832	chr10:26669040-26809400	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2050447	MASTL	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26725600-26730400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr10:26726000-26730800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr10:26728200-26730400	Weak transcription	Spleen	Spleen
4	chr10:26728200-26731200	Active TSS	Brain Hippocampus Middle	brain
5	chr10:26728200-26745200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr10:26728200-26757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:26728400-26730400	Weak transcription	NHLF	lung
8	chr10:26728600-26731400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr10:26728800-26731600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr10:26729200-26730800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:26729200-26735400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:26729400-26731400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:26729600-26731400	Enhancers	Adipose Nuclei	Adipose
14	chr10:26729800-26731200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:26729800-26731600	Enhancers	Osteobl	bone
16	chr10:26730000-26730400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr10:26730000-26730400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:26730000-26730600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:26730000-26730600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr10:26730000-26730600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:26730000-26730600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
22	chr10:26730000-26730800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr10:26730000-26730800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr10:26730000-26731000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr10:26730000-26731200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr10:26730000-26733600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr10:26730200-26730400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:26730200-26730400	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr10:26730200-26730600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr10:26730200-26730600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr10:26730200-26730600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:26730200-26730600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:26730200-26730600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:26730200-26730600	Transcr. at gene 5' and 3'	Thymus	Thymus
35	chr10:26730200-26731200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr10:26730200-26731200	Enhancers	NH-A	brain
37	chr10:26730200-26731400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr10:26730200-26731400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr10:26730200-26731600	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr10:26730200-26731800	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr10:26730200-26731800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
42	chr10:26730200-26732000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
43	chr10:26730200-26738600	Weak transcription	Liver	Liver

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