Variant report

Variant	rs3006809
Chromosome Location	chr10:26751003-26751004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:26744668..26746996-chr10:26748863..26751424,2	K562	blood:

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

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

rs_ID	r²[population]
rs1001882	0.86[EUR][1000 genomes]
rs10047274	0.81[CHB][hapmap]
rs10764616	0.82[CHB][hapmap]
rs10764620	0.84[CHB][hapmap]
rs10828989	0.87[EUR][1000 genomes]
rs11015119	0.82[CHB][hapmap]
rs1360844	0.82[CHB][hapmap]
rs17529213	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2050447	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]
rs2281	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2992257	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2992258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2992264	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992265	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2992267	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];0.99[ASN][1000 genomes]
rs2992297	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2992298	0.86[EUR][1000 genomes]
rs2992326	0.90[EUR][1000 genomes]
rs2992327	0.90[EUR][1000 genomes]
rs3006785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3006803	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006804	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]
rs3006805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3006812	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3006814	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3006817	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3006820	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3006822	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3006824	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3006833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4275518	0.81[CHB][hapmap]
rs703003	0.86[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs703007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7901931	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs871367	0.86[AMR][1000 genomes];0.86[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
rs3006809	MASTL	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26728200-26757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:26739000-26757000	Weak transcription	Liver	Liver
3	chr10:26745400-26753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:26745400-26757400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:26746200-26757400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr10:26746400-26752200	Weak transcription	Adipose Nuclei	Adipose
7	chr10:26746400-26763200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:26746600-26756000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:26746800-26751200	Weak transcription	Primary T cells from cord blood	blood
10	chr10:26747400-26752200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr10:26748400-26751800	Strong transcription	Fetal Thymus	thymus
12	chr10:26748600-26757400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr10:26749000-26752600	ZNF genes & repeats	GM12878-XiMat	blood
14	chr10:26749400-26751800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr10:26749600-26754000	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr10:26750000-26751200	Strong transcription	Dnd41	blood
17	chr10:26750000-26751800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:26750000-26751800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:26750000-26752000	Weak transcription	Primary B cells from cord blood	blood
20	chr10:26750000-26752000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr10:26750000-26752400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:26750000-26753400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr10:26750000-26757600	Weak transcription	Spleen	Spleen
24	chr10:26750000-26759800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:26750200-26751800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:26750200-26751800	Weak transcription	Thymus	Thymus
27	chr10:26750200-26754800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr10:26750200-26754800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:26750800-26751600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr10:26750800-26751600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr10:26750800-26751800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr10:26750800-26755200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr10:26750800-26757600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr10:26751000-26751200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr10:26751000-26751400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr10:26751000-26751600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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