Variant report

Variant	rs58906143
Chromosome Location	chr3:47163422-47163423
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47160235..47164319-chr3:47167866..47171765,6	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1109497	0.89[AMR][1000 genomes]
rs17079336	0.89[AMR][1000 genomes]
rs60579303	1.00[AMR][1000 genomes]
rs60811415	0.89[AMR][1000 genomes]
rs60949675	1.00[AMR][1000 genomes]
rs6442058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6768374	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6772269	1.00[AMR][1000 genomes]
rs6784515	0.90[AFR][1000 genomes]
rs6809110	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72895783	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72913651	1.00[AMR][1000 genomes]
rs72913679	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr3:47140000-47175600	Weak transcription	Small Intestine	intestine
3	chr3:47144200-47170800	Weak transcription	Brain Angular Gyrus	brain
4	chr3:47145800-47175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:47146400-47164600	Weak transcription	Psoas Muscle	Psoas
6	chr3:47150800-47166600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:47151200-47164400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:47151200-47164400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:47151200-47167400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:47152400-47166000	Strong transcription	Placenta	Placenta
11	chr3:47154000-47164600	Weak transcription	Pancreas	Pancrea
12	chr3:47155200-47164600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:47155200-47165400	Weak transcription	Fetal Brain Male	brain
14	chr3:47155200-47172600	Weak transcription	Colonic Mucosa	Colon
15	chr3:47155400-47164400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:47155400-47164600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:47155400-47164600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:47155400-47164600	Weak transcription	Gastric	stomach
19	chr3:47155400-47164600	Weak transcription	Ovary	ovary
20	chr3:47155400-47165400	Weak transcription	Spleen	Spleen
21	chr3:47155400-47183800	Weak transcription	Esophagus	oesophagus
22	chr3:47155600-47164200	Weak transcription	Lung	lung
23	chr3:47155600-47164400	Weak transcription	Brain Hippocampus Middle	brain
24	chr3:47155800-47163600	Weak transcription	Fetal Heart	heart
25	chr3:47155800-47164600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:47156000-47164600	Weak transcription	NHLF	lung
27	chr3:47156000-47164800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:47156000-47165000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:47156200-47165400	Weak transcription	Left Ventricle	heart
30	chr3:47156800-47164200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:47156800-47164800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:47157000-47164400	Weak transcription	Colon Smooth Muscle	Colon
33	chr3:47157400-47164600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:47157400-47165400	Weak transcription	Right Ventricle	heart
35	chr3:47158000-47166200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:47158600-47164600	Weak transcription	Brain Anterior Caudate	brain
37	chr3:47158600-47164600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:47159600-47164400	Weak transcription	Osteobl	bone
39	chr3:47159800-47164600	Weak transcription	Brain Substantia Nigra	brain
40	chr3:47160200-47166000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:47160600-47163800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr3:47160600-47166000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:47160600-47166200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr3:47160600-47167800	Strong transcription	Fetal Thymus	thymus
45	chr3:47160800-47166000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:47160800-47166000	Strong transcription	HepG2	liver
47	chr3:47160800-47167400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:47161000-47166000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:47161000-47166000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:47161000-47166000	Strong transcription	Fetal Intestine Large	intestine

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