Variant report

Variant	rs58929900
Chromosome Location	chr3:113407609-113407610
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113406865..113408762-chr3:113453846..113456559,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10934239	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10934240	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11914863	0.85[ASN][1000 genomes]
rs11918910	0.85[ASN][1000 genomes]
rs11920913	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11921407	0.85[ASN][1000 genomes]
rs12486414	0.85[ASN][1000 genomes]
rs12491540	0.85[ASN][1000 genomes]
rs12492542	0.85[ASN][1000 genomes]
rs12493602	0.85[ASN][1000 genomes]
rs12493935	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12494777	0.85[ASN][1000 genomes]
rs12495298	0.85[ASN][1000 genomes]
rs2614194	1.00[EUR][1000 genomes]
rs2614195	1.00[EUR][1000 genomes]
rs2614198	1.00[EUR][1000 genomes]
rs2614199	1.00[EUR][1000 genomes]
rs2669908	1.00[EUR][1000 genomes]
rs6790978	1.00[EUR][1000 genomes]
rs7621654	1.00[EUR][1000 genomes]
rs7627224	1.00[EUR][1000 genomes]
rs7628664	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113380000-113413800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:113380000-113414000	Weak transcription	NH-A	brain
3	chr3:113380800-113413400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:113384200-113413600	Weak transcription	Colonic Mucosa	Colon
5	chr3:113387200-113412000	Weak transcription	Fetal Kidney	kidney
6	chr3:113395600-113414400	Weak transcription	Esophagus	oesophagus
7	chr3:113396000-113410200	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:113396200-113413800	Weak transcription	Fetal Heart	heart
9	chr3:113396200-113414000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:113396400-113413000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:113396600-113410200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:113396600-113412800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:113396600-113414000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:113397400-113411600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr3:113403400-113414000	Weak transcription	HSMMtube	muscle
16	chr3:113403800-113408400	Strong transcription	Primary T cells from cord blood	blood
17	chr3:113403800-113413400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr3:113404200-113410600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:113404200-113412000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr3:113404200-113412600	Weak transcription	Fetal Lung	lung
21	chr3:113404200-113413800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:113404400-113412000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:113404400-113414400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr3:113404600-113410200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:113404600-113412600	Weak transcription	Ovary	ovary
26	chr3:113404600-113412800	Weak transcription	Aorta	Aorta
27	chr3:113404600-113413600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:113404800-113409200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:113405200-113408000	Weak transcription	Primary B cells from cord blood	blood
30	chr3:113405200-113412000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:113405200-113413200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:113405200-113413600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:113405200-113413800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:113405200-113414200	Weak transcription	Right Ventricle	heart
35	chr3:113405400-113408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:113405400-113409800	Weak transcription	Fetal Thymus	thymus
37	chr3:113405400-113410200	Weak transcription	Gastric	stomach
38	chr3:113405400-113410200	Weak transcription	Thymus	Thymus
39	chr3:113405400-113410600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:113405400-113412800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:113405400-113413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:113405400-113413600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:113405400-113413800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:113405400-113413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:113405400-113414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:113405400-113414000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr3:113405400-113414000	Weak transcription	HMEC	breast
48	chr3:113405400-113414000	Weak transcription	NHLF	lung
49	chr3:113405600-113408200	Weak transcription	Liver	Liver
50	chr3:113405600-113409800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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