Variant report

Variant	rs3918386
Chromosome Location	chr3:46401243-46401244
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	chr3:46395645..46397767-chr3:46399914..46402472,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10490771	1.00[AMR][1000 genomes]
rs11574432	1.00[AMR][1000 genomes]
rs11574438	1.00[AMR][1000 genomes]
rs11574444	1.00[AMR][1000 genomes]
rs11575823	1.00[AMR][1000 genomes]
rs1607738	0.85[AMR][1000 genomes]
rs17078932	0.85[AMR][1000 genomes]
rs17078949	0.85[AMR][1000 genomes]
rs17141109	1.00[AMR][1000 genomes]
rs17141112	1.00[AMR][1000 genomes]
rs28584272	0.85[AMR][1000 genomes]
rs3918378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3918383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41469351	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41475349	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41499550	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463007	0.87[AMR][1000 genomes]
rs57571354	0.85[AMR][1000 genomes]
rs58970771	0.85[AMR][1000 genomes]
rs59568150	0.85[AMR][1000 genomes]
rs60700685	0.85[AMR][1000 genomes]
rs61151866	0.85[AMR][1000 genomes]
rs61389423	0.85[AMR][1000 genomes]
rs61550542	0.85[AMR][1000 genomes]
rs61740461	0.85[AMR][1000 genomes]
rs72900271	0.85[AMR][1000 genomes]
rs72900273	0.85[AMR][1000 genomes]
rs72900285	0.85[AMR][1000 genomes]
rs72900298	0.85[AMR][1000 genomes]
rs72902113	0.85[AMR][1000 genomes]
rs72902116	0.85[AMR][1000 genomes]
rs72902152	0.85[AMR][1000 genomes]
rs72904172	0.85[AMR][1000 genomes]
rs72906018	0.81[AFR][1000 genomes];0.85[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46392400-46402600	Weak transcription	Spleen	Spleen
2	chr3:46395800-46404200	Weak transcription	Right Atrium	heart
3	chr3:46396000-46422000	Weak transcription	Lung	lung
4	chr3:46398000-46401600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:46398000-46404200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:46398400-46401400	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
7	chr3:46398400-46402000	Weak transcription	Colonic Mucosa	Colon
8	chr3:46398600-46402800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
9	chr3:46398800-46402000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:46399400-46404000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:46400000-46401800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:46400200-46404200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr3:46400400-46404200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:46400400-46404400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:46400600-46403000	Enhancers	Fetal Stomach	stomach
16	chr3:46400600-46404000	Enhancers	Primary B cells from cord blood	blood
17	chr3:46400800-46402200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:46400800-46403200	Enhancers	Brain Germinal Matrix	brain
19	chr3:46400800-46403400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:46400800-46403800	Enhancers	Primary hematopoietic stem cells	blood
21	chr3:46401000-46401400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:46401000-46401600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:46401000-46401600	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:46401000-46401600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr3:46401000-46401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:46401000-46401800	Active TSS	Stomach Smooth Muscle	stomach
27	chr3:46401000-46402200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:46401000-46402400	Flanking Active TSS	GM12878-XiMat	blood
29	chr3:46401000-46402600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:46401000-46403000	Enhancers	Brain Anterior Caudate	brain
31	chr3:46401000-46403000	Enhancers	Brain Hippocampus Middle	brain
32	chr3:46401000-46403000	Enhancers	HSMMtube	muscle
33	chr3:46401000-46403200	Enhancers	Adipose Nuclei	Adipose
34	chr3:46401000-46403200	Enhancers	HSMM	muscle
35	chr3:46401000-46403400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:46401000-46403800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:46401000-46404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:46401000-46404000	Enhancers	Fetal Thymus	thymus
39	chr3:46401000-46404200	Enhancers	Primary B cells from peripheral blood	blood
40	chr3:46401000-46404400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr3:46401000-46404600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:46401200-46401400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:46401200-46401400	Flanking Active TSS	Fetal Brain Male	brain
44	chr3:46401200-46401400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr3:46401200-46401600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr3:46401200-46401800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:46401200-46402000	Enhancers	Fetal Muscle Leg	muscle
48	chr3:46401200-46402000	Enhancers	NHEK	skin
49	chr3:46401200-46402200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:46401200-46402200	Enhancers	Fetal Lung	lung

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