Variant report

Variant	rs2129431
Chromosome Location	chr3:113165770-113165771
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10511325	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919330	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]
rs11922708	0.93[AFR][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	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513288	0.94[EUR][1000 genomes]
rs16845109	0.91[AFR][1000 genomes];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]
rs16860995	0.87[AFR][1000 genomes]
rs16861014	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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861077	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]
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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2306070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472841	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35758075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35812463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56685963	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[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[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	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	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113136000-113176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:113145800-113166000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:113145800-113176600	Weak transcription	Spleen	Spleen
5	chr3:113146000-113172000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr3:113146000-113191000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:113146200-113178600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:113147800-113178800	Weak transcription	HSMM	muscle
9	chr3:113156000-113179400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:113160200-113167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:113160200-113176000	Weak transcription	Gastric	stomach
12	chr3:113160200-113190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:113160400-113176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:113160400-113186800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:113160400-113188800	Weak transcription	Colonic Mucosa	Colon
16	chr3:113160400-113191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:113160400-113192800	Weak transcription	Stomach Mucosa	stomach
18	chr3:113160600-113166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:113160600-113168800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:113160600-113170800	Weak transcription	Lung	lung
21	chr3:113160600-113170800	Weak transcription	Pancreas	Pancrea
22	chr3:113160600-113172200	Weak transcription	Left Ventricle	heart
23	chr3:113160600-113178600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr3:113160600-113179200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:113160600-113181600	Weak transcription	Esophagus	oesophagus
26	chr3:113160600-113188600	Weak transcription	Psoas Muscle	Psoas
27	chr3:113160600-113190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:113160800-113165800	Weak transcription	Fetal Thymus	thymus
30	chr3:113160800-113166200	Weak transcription	Fetal Intestine Large	intestine
31	chr3:113160800-113166200	Weak transcription	NH-A	brain
32	chr3:113160800-113168600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:113160800-113170400	Weak transcription	Thymus	Thymus
34	chr3:113160800-113170600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:113160800-113170600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:113160800-113170600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:113160800-113170600	Weak transcription	Fetal Stomach	stomach
38	chr3:113160800-113171800	Weak transcription	Osteobl	bone
39	chr3:113160800-113172000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:113160800-113172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:113160800-113172200	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:113160800-113172200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr3:113160800-113172400	Weak transcription	HSMMtube	muscle
44	chr3:113160800-113174800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:113160800-113174800	Weak transcription	HepG2	liver
46	chr3:113160800-113175400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:113160800-113175800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:113160800-113176000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr3:113160800-113176600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr3:113160800-113179000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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