Variant report

Variant	rs72924185
Chromosome Location	chr4:129963307-129963308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs56765848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58051833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59285303	1.00[AFR][1000 genomes]
rs59715472	1.00[AFR][1000 genomes]
rs61702015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922050	1.00[AFR][1000 genomes]
rs72922052	1.00[AFR][1000 genomes]
rs72922062	1.00[AFR][1000 genomes]
rs72922075	1.00[AFR][1000 genomes]
rs72922078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922083	1.00[AFR][1000 genomes]
rs72922086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922097	1.00[AFR][1000 genomes]
rs72922099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72922102	1.00[AFR][1000 genomes]
rs72924103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924109	1.00[AFR][1000 genomes]
rs72924111	1.00[AFR][1000 genomes]
rs72924115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924122	1.00[AFR][1000 genomes]
rs72924124	1.00[AMR][1000 genomes]
rs72924130	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924154	1.00[AFR][1000 genomes]
rs72924157	1.00[AFR][1000 genomes]
rs72924160	1.00[AFR][1000 genomes]
rs72924167	1.00[AFR][1000 genomes]
rs72924180	1.00[AFR][1000 genomes]
rs72926010	1.00[AFR][1000 genomes]
rs72926011	1.00[AFR][1000 genomes]
rs72926013	1.00[AFR][1000 genomes]
rs72926017	1.00[AFR][1000 genomes]
rs72926020	1.00[AFR][1000 genomes]
rs72926029	1.00[AFR][1000 genomes]
rs72926030	1.00[AFR][1000 genomes]
rs72926036	1.00[AFR][1000 genomes]
rs72926056	1.00[AFR][1000 genomes]
rs72926071	1.00[AFR][1000 genomes]
rs72926072	1.00[AFR][1000 genomes]
rs72926087	1.00[AFR][1000 genomes]
rs72926090	1.00[AFR][1000 genomes]
rs72927922	0.81[AFR][1000 genomes]
rs72927928	0.90[AFR][1000 genomes]
rs72927936	0.90[AFR][1000 genomes]
rs72930000	1.00[AMR][1000 genomes]
rs72931933	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	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
4	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129937200-129964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129944800-129965400	Weak transcription	Ovary	ovary
3	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
4	chr4:129951200-129967200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:129951400-129976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:129954800-129964400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:129955000-129965200	Weak transcription	K562	blood
10	chr4:129957000-129963800	Weak transcription	Lung	lung
11	chr4:129957000-129965400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:129957400-129964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:129957400-129964800	Weak transcription	Fetal Stomach	stomach
14	chr4:129958400-129964800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:129958800-129965400	Weak transcription	Adipose Nuclei	Adipose
16	chr4:129958800-129965400	Weak transcription	Liver	Liver
17	chr4:129958800-129966400	Weak transcription	Fetal Thymus	thymus
18	chr4:129959800-129965600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:129959800-129966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:129960000-129964800	Weak transcription	Gastric	stomach
21	chr4:129960400-129963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:129961200-129965400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:129961400-129963600	Weak transcription	GM12878-XiMat	blood
24	chr4:129961400-129965400	Weak transcription	Primary B cells from cord blood	blood
25	chr4:129961400-129965600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:129961400-129967800	Weak transcription	HSMM	muscle
27	chr4:129961600-129965200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:129961600-129965200	Weak transcription	Primary T cells from cord blood	blood
29	chr4:129961600-129965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:129962600-129964200	Weak transcription	Fetal Lung	lung
31	chr4:129962600-129965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:129962800-129965400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:129963000-129965400	Weak transcription	Spleen	Spleen

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