Variant report

Variant	rs13138212
Chromosome Location	chr4:143297038-143297039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1158692	0.85[CEU][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes]
rs1158693	0.84[AMR][1000 genomes]
rs11722756	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12511267	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13128245	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13135641	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13140802	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13144939	0.85[CEU][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes]
rs1391098	0.90[JPT][hapmap]
rs1489577	0.92[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1489578	0.92[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1497389	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497397	1.00[ASW][hapmap];0.84[CEU][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1497398	0.84[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes]
rs1565306	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812174	0.90[JPT][hapmap]
rs1814133	0.84[AMR][1000 genomes]
rs1982966	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2029991	0.81[AMR][1000 genomes]
rs2173209	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255497	0.84[AMR][1000 genomes]
rs2306913	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2635421	0.80[AMR][1000 genomes]
rs2635424	0.85[CEU][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs2646085	0.90[JPT][hapmap]
rs2646086	0.83[AMR][1000 genomes]
rs2646087	0.80[AMR][1000 genomes]
rs2646091	0.90[JPT][hapmap]
rs34830426	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35151914	0.85[ASN][1000 genomes]
rs3775703	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3775705	0.84[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3775706	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3775710	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3775711	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3822157	0.84[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6825345	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs716762	0.85[CEU][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes]
rs724131	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs72724560	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7699598	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881611	0.92[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs931419	0.90[JPT][hapmap]
rs980808	0.84[AMR][1000 genomes]
rs983767	0.90[AMR][1000 genomes];0.93[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:143289200-143300000	Weak transcription	NH-A	brain
5	chr4:143290200-143298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr4:143290800-143300000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:143291200-143299000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:143293400-143302800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:143293800-143298000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:143293800-143298400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr4:143294000-143297400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:143294200-143299600	Weak transcription	Right Ventricle	heart
15	chr4:143294200-143300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:143294200-143305400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr4:143294800-143299000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:143294800-143299400	Weak transcription	Aorta	Aorta
19	chr4:143294800-143299400	Weak transcription	Fetal Muscle Leg	muscle
20	chr4:143295000-143299800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:143295200-143305000	Weak transcription	Small Intestine	intestine
22	chr4:143295400-143298600	Weak transcription	HSMMtube	muscle
23	chr4:143295400-143298600	Weak transcription	NHLF	lung
24	chr4:143295400-143299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:143295400-143300000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:143295400-143301400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:143295600-143298200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:143295600-143299200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:143295600-143299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:143295600-143299600	Weak transcription	Stomach Mucosa	stomach
31	chr4:143296000-143297200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:143296000-143297600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:143296000-143301800	Enhancers	Fetal Heart	heart
34	chr4:143296200-143297800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr4:143296200-143300600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr4:143296600-143297400	Weak transcription	HMEC	breast
37	chr4:143296600-143297800	Enhancers	Primary T cells from cord blood	blood
38	chr4:143296600-143299200	Enhancers	Dnd41	blood
39	chr4:143296600-143299600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:143296600-143310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:143296800-143298400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:143296800-143298600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr4:143296800-143298600	Weak transcription	Osteobl	bone
44	chr4:143296800-143299000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:143296800-143301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:143297000-143297400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:143297000-143297400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:143297000-143297400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr4:143297000-143297600	Weak transcription	HSMM	muscle
50	chr4:143297000-143297800	Weak transcription	Muscle Satellite Cultured Cells	--

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