Variant report

Variant	rs73848913
Chromosome Location	chr4:130025641-130025642
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	chr4:130006908..130009786-chr4:130024045..130026428,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs55707740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55764329	0.91[AFR][1000 genomes]
rs55955516	1.00[AFR][1000 genomes]
rs56002856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56069250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57542268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58053026	0.91[AFR][1000 genomes]
rs58701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61267810	1.00[AFR][1000 genomes]
rs61700015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847304	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847305	1.00[AFR][1000 genomes]
rs73847307	0.83[AFR][1000 genomes]
rs73847310	0.91[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847356	0.91[AFR][1000 genomes]
rs73847358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847383	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847391	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847398	0.83[AFR][1000 genomes]
rs73847399	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	1.00[AFR][1000 genomes]
rs73850027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850062	0.91[AFR][1000 genomes]
rs73850063	0.91[AFR][1000 genomes]
rs73850064	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130017600-130031400	Weak transcription	Pancreas	Pancrea
2	chr4:130017600-130031400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:130017600-130040400	Weak transcription	Lung	lung
4	chr4:130017800-130026400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:130017800-130027200	Weak transcription	Small Intestine	intestine
6	chr4:130017800-130030800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:130017800-130031400	Weak transcription	Aorta	Aorta
8	chr4:130017800-130031400	Weak transcription	Left Ventricle	heart
9	chr4:130017800-130031400	Weak transcription	Ovary	ovary
10	chr4:130017800-130031400	Weak transcription	Right Ventricle	heart
11	chr4:130017800-130031600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:130017800-130032600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:130017800-130032800	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:130017800-130033400	Weak transcription	Brain Hippocampus Middle	brain
15	chr4:130017800-130033400	Weak transcription	Thymus	Thymus
16	chr4:130017800-130034200	Weak transcription	Colonic Mucosa	Colon
17	chr4:130018000-130026400	Weak transcription	Fetal Kidney	kidney
18	chr4:130018000-130028000	Weak transcription	NH-A	brain
19	chr4:130018000-130030200	Weak transcription	Primary T cells from cord blood	blood
20	chr4:130018000-130030400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:130018000-130030600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:130018000-130031000	Weak transcription	Fetal Thymus	thymus
23	chr4:130018000-130031400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:130018000-130031400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:130018000-130031400	Weak transcription	Fetal Stomach	stomach
26	chr4:130018000-130032400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:130018000-130033000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:130018000-130033200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:130018000-130033400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr4:130018000-130034000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:130018000-130038000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:130018200-130030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:130018200-130031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:130018200-130032400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:130018600-130032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:130018800-130033800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:130020200-130030400	Weak transcription	K562	blood
38	chr4:130020600-130030200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:130023600-130026800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:130023600-130033400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr4:130023800-130026400	Strong transcription	Liver	Liver
42	chr4:130024200-130025800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:130024200-130030600	Weak transcription	Fetal Heart	heart
44	chr4:130024400-130026000	Strong transcription	Primary B cells from cord blood	blood
45	chr4:130024400-130026000	Strong transcription	Dnd41	blood
46	chr4:130024400-130026400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr4:130024400-130026400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:130024400-130026800	Strong transcription	Placenta	Placenta
49	chr4:130024600-130025800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr4:130024600-130025800	Strong transcription	Rectal Mucosa Donor 31	rectum

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