Variant report

Variant	rs2790103
Chromosome Location	chr6:45432265-45432266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45430581..45433056-chr6:45439999..45442351,2	K562	blood:
2	chr6:45423983..45426687-chr6:45430740..45433048,2	MCF-7	breast:
3	chr6:45419819..45421341-chr6:45429918..45432276,2	K562	blood:
4	chr6:45430590..45432919-chr6:45437059..45439049,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10214519	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12197948	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12210100	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12215249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1317777	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13208741	1.00[JPT][hapmap]
rs1343799	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1934327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2252718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2256819	0.91[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2396442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2677098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677100	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2677109	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs2677110	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2790093	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790095	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790097	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2790098	1.00[CEU][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2790099	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2790100	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2790102	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2819852	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819853	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819861	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2819864	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2819865	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2819866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2819867	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2820339	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2820340	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4711816	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4714854	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6458443	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs765724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756144	0.93[EUR][1000 genomes]
rs910586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9885645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:45416400-45440400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:45419200-45456200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:45422000-45441200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:45422000-45445000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:45422200-45440000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:45422400-45438200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:45422600-45432400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:45422600-45437200	Weak transcription	NHDF-Ad	bronchial
10	chr6:45422600-45439800	Weak transcription	NHLF	lung
11	chr6:45423000-45454400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:45423400-45434600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:45425600-45444000	Weak transcription	Fetal Thymus	thymus
14	chr6:45426800-45444200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:45429000-45440600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:45429200-45432800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:45429400-45438000	Weak transcription	NH-A	brain
18	chr6:45429400-45445400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:45429600-45437800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr6:45429600-45444800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:45429600-45444800	Weak transcription	NHEK	skin
22	chr6:45429800-45432400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:45429800-45445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:45429800-45445400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr6:45430000-45444600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:45430200-45444600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr6:45430200-45445400	Weak transcription	Primary T cells from cord blood	blood
28	chr6:45430200-45445800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:45430600-45436200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:45430800-45432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:45430800-45432400	Weak transcription	Osteobl	bone
32	chr6:45430800-45433600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr6:45430800-45434200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:45430800-45434200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:45430800-45434600	Weak transcription	Dnd41	blood
36	chr6:45430800-45435200	Weak transcription	Left Ventricle	heart
37	chr6:45430800-45436400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:45431000-45434600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:45431200-45432400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:45431200-45440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:45431600-45433600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:45431800-45433000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:45432000-45441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:45432200-45432800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:45432200-45432800	Enhancers	Fetal Lung	lung
46	chr6:45432200-45433000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:45432200-45433000	Genic enhancers	HSMM	muscle
48	chr6:45432200-45433000	Enhancers	HSMMtube	muscle
49	chr6:45432200-45447800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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