Variant report

Variant	rs1082590
Chromosome Location	chr3:113035207-113035208
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16861001	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2650099	1.00[EUR][1000 genomes]
rs2936722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682484	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs55671509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55720547	1.00[EUR][1000 genomes]
rs56036775	1.00[EUR][1000 genomes]
rs56044072	1.00[EUR][1000 genomes]
rs56045452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56204634	1.00[EUR][1000 genomes]
rs57529679	1.00[EUR][1000 genomes]
rs58512733	1.00[EUR][1000 genomes]
rs66730375	1.00[EUR][1000 genomes]
rs66784102	1.00[EUR][1000 genomes]
rs67201219	1.00[EUR][1000 genomes]
rs6803401	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235048	0.86[EUR][1000 genomes]
rs73235056	0.86[EUR][1000 genomes]
rs73235067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235097	0.86[EUR][1000 genomes]
rs73235138	0.86[EUR][1000 genomes]
rs73235156	0.86[EUR][1000 genomes]
rs73237112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73237128	0.86[EUR][1000 genomes]
rs73239129	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73239130	1.00[EUR][1000 genomes]
rs73241124	0.86[EUR][1000 genomes]
rs7613728	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs775234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs799829	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112990400-113036000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:112993800-113036000	Weak transcription	Right Ventricle	heart
3	chr3:112995400-113035800	Weak transcription	Lung	lung
4	chr3:112995800-113035800	Weak transcription	Thymus	Thymus
5	chr3:112996400-113046400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr3:112997200-113036200	Weak transcription	Spleen	Spleen
7	chr3:112998600-113036000	Weak transcription	Gastric	stomach
8	chr3:113001200-113044600	Weak transcription	Fetal Kidney	kidney
9	chr3:113006200-113035400	Weak transcription	Esophagus	oesophagus
10	chr3:113006200-113036000	Weak transcription	Pancreas	Pancrea
11	chr3:113007200-113043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:113008200-113035800	Weak transcription	Fetal Intestine Small	intestine
13	chr3:113010800-113035800	Weak transcription	Ovary	ovary
14	chr3:113011000-113036000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:113013600-113065200	Weak transcription	Left Ventricle	heart
16	chr3:113017800-113036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:113020800-113041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:113022600-113035800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:113023400-113041600	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:113024200-113038000	Weak transcription	Colonic Mucosa	Colon
21	chr3:113024600-113046600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:113028600-113053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:113030000-113036000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:113031600-113035800	Weak transcription	Fetal Stomach	stomach
26	chr3:113032800-113035400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:113032800-113038600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:113034000-113035400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:113034000-113036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:113034000-113037000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:113034200-113037000	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:113034400-113046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:113034600-113036000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr3:113034800-113035800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:113034800-113036000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:113034800-113036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:113034800-113044600	Weak transcription	Liver	Liver
38	chr3:113034800-113044600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:113034800-113044800	Weak transcription	A549	lung
40	chr3:113034800-113048400	Weak transcription	Fetal Lung	lung
41	chr3:113034800-113053600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:113034800-113054000	Weak transcription	Psoas Muscle	Psoas
43	chr3:113035000-113035600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:113035000-113035800	Weak transcription	Brain Anterior Caudate	brain
45	chr3:113035000-113035800	Strong transcription	Colon Smooth Muscle	Colon
46	chr3:113035000-113035800	Weak transcription	Fetal Intestine Large	intestine
47	chr3:113035000-113036800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:113035000-113036800	Strong transcription	Primary T cells from cord blood	blood
49	chr3:113035000-113040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:113035000-113044600	Weak transcription	Rectal Mucosa Donor 29	rectum

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