Variant report

Variant	rs3006804
Chromosome Location	chr10:26732848-26732849
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1001882	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10047274	0.82[CHB][hapmap]
rs10764616	0.82[CHB][hapmap]
rs10764620	0.84[CHB][hapmap]
rs10828989	0.91[EUR][1000 genomes]
rs11015119	0.82[CHB][hapmap]
rs1360844	0.83[CHB][hapmap]
rs17529213	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2050447	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]
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];1.00[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];1.00[CHD][hapmap];0.87[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]
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];1.00[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.88[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]
rs4275518	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]
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]

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
rs3006804	MASTL	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26728200-26745200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:26728200-26757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:26729200-26735400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:26730000-26733600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr10:26730200-26738600	Weak transcription	Liver	Liver
6	chr10:26731000-26738000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:26731200-26733000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:26731200-26734600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:26731200-26737200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:26731200-26749600	Weak transcription	Spleen	Spleen
11	chr10:26731400-26733000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:26731400-26733600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:26731400-26733600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:26731400-26734400	Genic enhancers	Primary B cells from cord blood	blood
15	chr10:26731400-26734600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:26731400-26734600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr10:26731400-26734800	Weak transcription	Adipose Nuclei	Adipose
18	chr10:26731400-26735400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:26731400-26737200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:26731400-26737400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:26731600-26733000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr10:26731600-26733600	Enhancers	Primary T cells from cord blood	blood
23	chr10:26731600-26734400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:26731600-26734600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr10:26731800-26735400	Genic enhancers	Dnd41	blood
26	chr10:26732000-26733000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr10:26732000-26733000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:26732000-26733000	Weak transcription	GM12878-XiMat	blood
29	chr10:26732000-26733000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr10:26732000-26733600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr10:26732000-26734000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr10:26732000-26734400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr10:26732000-26737000	Genic enhancers	Fetal Thymus	thymus
34	chr10:26732200-26733800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
35	chr10:26732600-26733400	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr10:26732600-26733600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:26732600-26735800	Genic enhancers	Thymus	Thymus
38	chr10:26732600-26736000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr10:26732800-26733600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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