Variant report

Variant	rs4748779
Chromosome Location	chr10:22288132-22288133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22286145..22289305-chr10:22289991..22293605,4	MCF-7	breast:
2	chr10:22285700..22288516-chr10:22517440..22519055,2	K562	blood:
3	chr10:22288123..22291435-chr10:22604934..22607218,3	MCF-7	breast:
4	chr10:22281301..22284057-chr10:22286208..22288285,2	K562	blood:

Variant related genes	Relation type
ENSG00000269897	Chromatin interaction
ENSG00000148444	Chromatin interaction
ENSG00000136770	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10508639	1.00[CEU][hapmap]
rs10764328	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764330	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10828266	0.95[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs10828283	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1086899	0.85[CEU][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs11012794	1.00[ASW][hapmap];0.89[CEU][hapmap];0.85[GIH][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs12571634	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[CHD][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066270	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[MEX][hapmap]
rs2066271	1.00[ASW][hapmap];0.95[CEU][hapmap];0.86[MEX][hapmap]
rs2457954	0.83[CEU][hapmap]
rs2487512	0.85[CEU][hapmap]
rs2666750	0.85[CEU][hapmap]
rs2666754	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.85[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2666757	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2666759	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2666760	0.81[CEU][hapmap]
rs2666761	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2666768	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2666769	0.95[CEU][hapmap]
rs2666771	0.89[ASW][hapmap];1.00[CEU][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap]
rs2666772	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2666775	1.00[CEU][hapmap];0.96[GIH][hapmap];0.83[EUR][1000 genomes]
rs2666776	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.82[TSI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2666779	0.89[ASW][hapmap];0.95[CEU][hapmap];0.86[MEX][hapmap]
rs2666782	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2807966	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2807967	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2807968	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.94[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2807971	1.00[CEU][hapmap];0.93[GIH][hapmap];0.83[EUR][1000 genomes]
rs2807978	0.85[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs2807979	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2807982	0.80[CEU][hapmap]
rs2807983	0.85[CEU][hapmap]
rs2807984	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2807985	0.89[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2807986	0.95[CEU][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2807987	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2807988	0.81[CEU][hapmap]
rs2859622	0.90[CEU][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2941732	0.83[EUR][1000 genomes]
rs2941733	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2998360	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2998361	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4024198	1.00[CEU][hapmap];0.89[GIH][hapmap]
rs4146689	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4304660	1.00[YRI][hapmap]
rs4364959	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748775	0.89[CEU][hapmap]
rs4748776	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4748777	0.93[CEU][hapmap];0.87[AMR][1000 genomes]
rs4748778	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6650129	0.81[CEU][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs6650130	0.81[CEU][hapmap];0.88[EUR][1000 genomes]
rs7089656	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs792453	0.95[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs792454	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs792455	0.95[CEU][hapmap]
rs792456	0.84[CEU][hapmap]
rs806774	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4748779	MLLT10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22275600-22290000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:22276600-22291000	Weak transcription	Brain Anterior Caudate	brain
3	chr10:22278600-22289200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:22278600-22291000	Weak transcription	Right Atrium	heart
5	chr10:22278800-22291000	Weak transcription	Brain Angular Gyrus	brain
6	chr10:22278800-22291200	Weak transcription	Left Ventricle	heart
7	chr10:22279000-22290000	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:22279400-22291000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr10:22282400-22289200	Weak transcription	Pancreas	Pancrea
10	chr10:22282600-22290000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:22282600-22291000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:22282800-22289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr10:22284600-22289400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:22284600-22290000	Weak transcription	NHEK	skin
15	chr10:22284800-22289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:22284800-22290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr10:22284800-22290200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:22284800-22290400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:22284800-22290800	Weak transcription	Osteobl	bone
20	chr10:22285000-22290000	Weak transcription	Liver	Liver
21	chr10:22285200-22291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:22285800-22290800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr10:22286000-22289400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:22286000-22290200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:22286200-22290200	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:22286200-22291000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:22286400-22289000	Weak transcription	GM12878-XiMat	blood
28	chr10:22286400-22289400	Weak transcription	Fetal Lung	lung
29	chr10:22286400-22291000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:22286600-22289200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:22286600-22289400	Weak transcription	Gastric	stomach
32	chr10:22286600-22290200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:22286600-22290800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:22286600-22290800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr10:22286600-22291000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr10:22286600-22291200	Weak transcription	Small Intestine	intestine
37	chr10:22286800-22290000	Weak transcription	Fetal Brain Female	brain
38	chr10:22288000-22289200	Strong transcription	K562	blood

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