Variant report

Variant	rs73847383
Chromosome Location	chr4:129942235-129942236
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs55707740	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714747	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55753141	1.00[AMR][1000 genomes]
rs55955516	0.83[AFR][1000 genomes]
rs56002856	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56069250	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56721576	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57056827	1.00[AMR][1000 genomes]
rs57243721	1.00[AMR][1000 genomes]
rs57542268	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58701517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58799593	1.00[AMR][1000 genomes]
rs60005322	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60227965	1.00[AMR][1000 genomes]
rs61267810	0.83[AFR][1000 genomes]
rs61700015	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73846992	1.00[AMR][1000 genomes]
rs73846993	1.00[AMR][1000 genomes]
rs73846994	1.00[AMR][1000 genomes]
rs73846999	1.00[AMR][1000 genomes]
rs73847304	1.00[AMR][1000 genomes]
rs73847305	0.83[AFR][1000 genomes]
rs73847312	1.00[AMR][1000 genomes]
rs73847313	1.00[AMR][1000 genomes]
rs73847314	1.00[AMR][1000 genomes]
rs73847316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847317	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847322	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847323	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847326	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847329	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847332	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847333	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847334	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847341	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847354	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847355	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847358	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847375	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847378	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847380	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847391	1.00[AMR][1000 genomes]
rs73847392	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73847395	1.00[AMR][1000 genomes]
rs73847399	1.00[AMR][1000 genomes]
rs73848906	1.00[AMR][1000 genomes]
rs73848910	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73848934	0.83[AFR][1000 genomes]
rs73850005	1.00[AMR][1000 genomes]
rs73850009	1.00[AMR][1000 genomes]
rs73850010	1.00[AMR][1000 genomes]
rs73850011	1.00[AMR][1000 genomes]
rs73850012	1.00[AMR][1000 genomes]
rs73850013	1.00[AMR][1000 genomes]
rs73850015	1.00[AMR][1000 genomes]
rs73850016	1.00[AMR][1000 genomes]
rs73850017	1.00[AMR][1000 genomes]
rs73850018	1.00[AMR][1000 genomes]
rs73850019	1.00[AMR][1000 genomes]
rs73850027	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850028	1.00[AMR][1000 genomes]
rs73850035	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850039	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850041	1.00[AMR][1000 genomes]
rs73850059	1.00[AMR][1000 genomes]
rs73850061	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850064	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:129932000-129944000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:129932200-129947000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:129934000-129942400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:129934200-129942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr4:129934200-129944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:129934600-129944200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:129934600-129944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:129935600-129943400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:129935800-129943800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:129935800-129944400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:129936000-129943400	Weak transcription	Fetal Heart	heart
13	chr4:129936600-129942600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:129936800-129942800	Weak transcription	Placenta	Placenta
15	chr4:129936800-129943800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:129936800-129944000	Weak transcription	NHLF	lung
17	chr4:129937000-129942400	Weak transcription	Liver	Liver
18	chr4:129937000-129942600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:129937000-129942600	Weak transcription	Left Ventricle	heart
20	chr4:129937000-129942800	Weak transcription	Colonic Mucosa	Colon
21	chr4:129937000-129943000	Weak transcription	Brain Angular Gyrus	brain
22	chr4:129937200-129942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:129937200-129943200	Weak transcription	Fetal Lung	lung
24	chr4:129937200-129964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:129937800-129943800	Weak transcription	Adipose Nuclei	Adipose
26	chr4:129937800-129947000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:129939200-129943200	Weak transcription	A549	lung
28	chr4:129939200-129943600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:129939400-129942600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:129941200-129943800	Weak transcription	Small Intestine	intestine
31	chr4:129941200-129945600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:129941200-129945800	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:129941400-129942400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:129941400-129943000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:129941400-129943400	ZNF genes & repeats	Fetal Thymus	thymus
36	chr4:129941400-129943600	Strong transcription	Primary T cells from cord blood	blood
37	chr4:129941400-129944400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr4:129941400-129945000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:129941600-129942400	Strong transcription	Primary B cells from cord blood	blood
40	chr4:129941600-129942800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:129941600-129943000	Strong transcription	Ovary	ovary
42	chr4:129941600-129943200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:129942000-129942400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:129942000-129942400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:129942000-129942600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:129942000-129942800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:129942000-129943000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
48	chr4:129942000-129943000	ZNF genes & repeats	GM12878-XiMat	blood
49	chr4:129942000-129943200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr4:129942000-129943200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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