Variant report

Variant	rs11917288
Chromosome Location	chr3:113206590-113206591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10511325	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920725	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922838	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923128	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924109	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11926687	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513288	0.94[EUR][1000 genomes]
rs16845109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860962	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861023	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861109	1.00[EUR][1000 genomes]
rs16861217	0.87[EUR][1000 genomes]
rs17255950	0.91[EUR][1000 genomes]
rs17256551	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17256752	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17322613	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17325024	0.87[EUR][1000 genomes]
rs1906141	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989359	1.00[EUR][1000 genomes]
rs2129431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129432	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271496	0.87[EUR][1000 genomes]
rs2291412	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306068	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2306070	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35758075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35812463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56685963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56772417	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57115529	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57164268	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57366942	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58905600	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58988763	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59271111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59493419	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59673391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59742486	0.84[EUR][1000 genomes]
rs60582065	0.84[EUR][1000 genomes]
rs60697865	0.91[EUR][1000 genomes]
rs60940543	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61065093	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61575357	0.87[EUR][1000 genomes]
rs61594119	0.84[EUR][1000 genomes]
rs6438150	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438151	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783691	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs735	0.91[EUR][1000 genomes]
rs7610552	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	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
3	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
2	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
3	chr3:113172800-113232800	Weak transcription	HSMMtube	muscle
4	chr3:113176400-113233200	Weak transcription	Gastric	stomach
5	chr3:113177400-113225800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr3:113177600-113224400	Weak transcription	Spleen	Spleen
7	chr3:113179600-113215200	Weak transcription	HMEC	breast
8	chr3:113179600-113217200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:113179600-113232400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:113179600-113232800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:113184000-113233200	Weak transcription	Pancreas	Pancrea
12	chr3:113187200-113207200	Weak transcription	Thymus	Thymus
13	chr3:113187200-113224400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:113187800-113207000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:113187800-113209400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:113188000-113207000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:113188000-113211400	Weak transcription	Osteobl	bone
18	chr3:113188000-113215000	Weak transcription	NH-A	brain
19	chr3:113189000-113207200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr3:113189200-113207000	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:113189800-113208000	Weak transcription	Fetal Kidney	kidney
22	chr3:113189800-113209400	Weak transcription	Primary B cells from cord blood	blood
23	chr3:113190400-113206600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:113190400-113207200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:113190400-113210600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr3:113191000-113215200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:113199600-113217000	Weak transcription	Small Intestine	intestine
28	chr3:113201400-113232600	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:113201600-113209400	Weak transcription	GM12878-XiMat	blood
30	chr3:113202400-113209800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:113202400-113232800	Weak transcription	Fetal Brain Female	brain
32	chr3:113202600-113211600	Weak transcription	Brain Angular Gyrus	brain
33	chr3:113203200-113223600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:113203400-113229200	Weak transcription	Lung	lung
35	chr3:113203800-113213000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:113204000-113221200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:113204000-113223400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr3:113204200-113208000	Weak transcription	Hela-S3	cervix
39	chr3:113204400-113206600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:113204400-113206600	Weak transcription	Ovary	ovary
41	chr3:113204400-113208400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:113204400-113217200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:113204400-113224600	Weak transcription	Aorta	Aorta
44	chr3:113204400-113230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr3:113204600-113206800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr3:113204600-113207200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:113204600-113207200	Weak transcription	Left Ventricle	heart
48	chr3:113204600-113207200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:113204600-113207400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr3:113204600-113209200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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