Variant report

Variant	rs4855389
Chromosome Location	chr3:69377119-69377120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10865649	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11128126	0.80[AMR][1000 genomes]
rs11707811	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12492029	0.81[EUR][1000 genomes]
rs1483895	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs1564757	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17005615	0.82[EUR][1000 genomes]
rs17005647	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1872152	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs2007584	0.90[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2170800	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35331889	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4290808	0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4428187	0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4855308	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56119799	0.82[EUR][1000 genomes]
rs56336456	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56741529	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59563257	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6419766	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6549198	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs6549203	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6771772	0.87[CEU][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6774274	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6776474	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67846536	0.80[EUR][1000 genomes]
rs67940491	0.81[EUR][1000 genomes]
rs68061967	0.86[ASN][1000 genomes]
rs7611647	0.85[ASN][1000 genomes]
rs7612526	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7617464	0.91[ASN][1000 genomes]
rs9310148	0.90[ASN][1000 genomes]
rs9310149	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9861135	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9868217	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9868990	0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap]

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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69360600-69382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69366800-69378200	Enhancers	Brain Hippocampus Middle	brain
3	chr3:69367200-69378400	Enhancers	Brain Substantia Nigra	brain
4	chr3:69368400-69378200	Enhancers	Brain Cingulate Gyrus	brain
5	chr3:69369000-69377600	Weak transcription	Fetal Brain Female	brain
6	chr3:69370200-69384000	Weak transcription	Left Ventricle	heart
7	chr3:69370400-69379200	Weak transcription	Spleen	Spleen
8	chr3:69371000-69377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:69371800-69380000	Weak transcription	Fetal Heart	heart
10	chr3:69372200-69377400	Weak transcription	Ovary	ovary
11	chr3:69372200-69403800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:69372400-69377200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:69372400-69380000	Weak transcription	NHEK	skin
14	chr3:69373600-69377400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:69373600-69378400	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:69373800-69380400	Weak transcription	Placenta	Placenta
17	chr3:69374600-69380400	Weak transcription	Lung	lung
18	chr3:69374600-69383200	Weak transcription	Right Atrium	heart
19	chr3:69374800-69388400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr3:69375000-69378000	Weak transcription	Right Ventricle	heart
21	chr3:69375000-69380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:69375000-69384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:69375400-69377800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr3:69375400-69378400	Flanking Active TSS	Dnd41	blood
25	chr3:69375600-69377600	Enhancers	Fetal Lung	lung
26	chr3:69375600-69378000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:69375600-69378200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:69375600-69378200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr3:69375600-69378400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:69375600-69378400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:69375800-69378400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:69375800-69378400	Enhancers	NHLF	lung
33	chr3:69375800-69378600	Enhancers	HUVEC	blood vessel
34	chr3:69376000-69377200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr3:69376000-69380000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:69376200-69377200	Weak transcription	Brain Anterior Caudate	brain
37	chr3:69376400-69377400	Enhancers	Brain Angular Gyrus	brain
38	chr3:69376400-69378000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:69376400-69378000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr3:69376400-69378000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr3:69376400-69378200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr3:69376400-69378400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:69376400-69378600	Enhancers	HSMM	muscle
44	chr3:69376400-69388600	Weak transcription	Aorta	Aorta
45	chr3:69376600-69377600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:69376600-69377800	Enhancers	Primary B cells from cord blood	blood
47	chr3:69376600-69378000	Enhancers	GM12878-XiMat	blood
48	chr3:69376600-69378400	Enhancers	Primary T cells from cord blood	blood
49	chr3:69376600-69378400	Enhancers	Fetal Thymus	thymus
50	chr3:69376600-69378400	Enhancers	Osteobl	bone

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