Variant report

Variant	rs2129432
Chromosome Location	chr3:113164827-113164828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10511325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917149	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11917288	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11919330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922598	0.83[JPT][hapmap]
rs11922838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924109	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11926687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1463639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513288	0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs16845106	0.91[JPT][hapmap]
rs16845109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861109	1.00[CEU][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs17256551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17256752	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17322613	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1906141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1989359	1.00[CEU][hapmap];0.83[JPT][hapmap];0.86[EUR][1000 genomes]
rs2129431	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291412	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306068	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2306070	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28472841	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35758075	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35812463	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814399	0.92[JPT][hapmap]
rs56685963	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56772417	0.82[ASN][1000 genomes]
rs57115529	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57164268	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57366942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58905600	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58988763	0.82[ASN][1000 genomes]
rs59271111	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59493419	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59673391	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60940543	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61065093	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6438150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6783691	1.00[CEU][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7610552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:115 , 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	chr3:113146400-113165000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:113147000-113165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr3:113147400-113165400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr3:113147800-113178800	Weak transcription	HSMM	muscle
12	chr3:113156000-113179400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:113160200-113165000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:113160200-113167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:113160200-113176000	Weak transcription	Gastric	stomach
16	chr3:113160200-113190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:113160400-113165000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:113160400-113176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:113160400-113186800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:113160400-113188800	Weak transcription	Colonic Mucosa	Colon
21	chr3:113160400-113191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:113160400-113192800	Weak transcription	Stomach Mucosa	stomach
23	chr3:113160600-113165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:113160600-113166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:113160600-113168800	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr3:113160600-113170800	Weak transcription	Lung	lung
27	chr3:113160600-113170800	Weak transcription	Pancreas	Pancrea
28	chr3:113160600-113172200	Weak transcription	Left Ventricle	heart
29	chr3:113160600-113178600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:113160600-113179200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:113160600-113181600	Weak transcription	Esophagus	oesophagus
32	chr3:113160600-113188600	Weak transcription	Psoas Muscle	Psoas
33	chr3:113160600-113190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:113160800-113165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr3:113160800-113165000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr3:113160800-113165000	Weak transcription	Fetal Muscle Leg	muscle
38	chr3:113160800-113165000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr3:113160800-113165000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:113160800-113165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:113160800-113165600	Weak transcription	Ovary	ovary
42	chr3:113160800-113165800	Weak transcription	Fetal Thymus	thymus
43	chr3:113160800-113166200	Weak transcription	Fetal Intestine Large	intestine
44	chr3:113160800-113166200	Weak transcription	NH-A	brain
45	chr3:113160800-113168600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:113160800-113170400	Weak transcription	Thymus	Thymus
47	chr3:113160800-113170600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:113160800-113170600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr3:113160800-113170600	Weak transcription	Fetal Intestine Small	intestine
50	chr3:113160800-113170600	Weak transcription	Fetal Stomach	stomach

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