Variant report

Variant	rs7618506
Chromosome Location	chr3:179144792-179144793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:179144339..179147910-chr3:179151090..179156565,5	K562	blood:
2	chr3:179143519..179146225-chr3:179157504..179160414,2	K562	blood:
3	chr3:179144298..179145839-chr3:179153924..179156309,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11919088	1.00[AMR][1000 genomes]
rs16830445	0.90[YRI][hapmap];0.98[AFR][1000 genomes]
rs16830460	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs58741861	0.95[AFR][1000 genomes]
rs59333548	0.93[AFR][1000 genomes]
rs61246771	0.93[AFR][1000 genomes]
rs6778235	0.95[AFR][1000 genomes]
rs6800044	0.94[YRI][hapmap];0.98[AFR][1000 genomes]
rs6808033	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs73043435	0.83[AMR][1000 genomes]
rs73045191	0.95[AFR][1000 genomes]
rs73045195	0.95[AFR][1000 genomes]
rs73045198	0.93[AFR][1000 genomes]
rs7611533	0.95[AFR][1000 genomes]
rs9829054	0.89[AFR][1000 genomes]
rs9861354	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs9864857	0.92[YRI][hapmap];0.98[AFR][1000 genomes]
rs9872939	1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1003514	chr3:178990037-179177029	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179084000-179167200	Weak transcription	Fetal Brain Male	brain
2	chr3:179097000-179147400	Weak transcription	Small Intestine	intestine
3	chr3:179111800-179150600	Weak transcription	Psoas Muscle	Psoas
4	chr3:179112000-179167200	Weak transcription	Fetal Kidney	kidney
5	chr3:179113800-179146800	Weak transcription	Gastric	stomach
6	chr3:179121000-179149400	Weak transcription	Primary T cells from cord blood	blood
7	chr3:179122800-179149800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:179123000-179150400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:179123200-179154800	Weak transcription	Brain Anterior Caudate	brain
10	chr3:179123400-179149600	Weak transcription	Fetal Intestine Large	intestine
11	chr3:179123600-179153600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:179123800-179156400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:179127200-179145000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:179127600-179145200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:179131600-179147400	Weak transcription	Fetal Heart	heart
16	chr3:179132800-179167000	Weak transcription	Hela-S3	cervix
17	chr3:179133200-179149400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:179133400-179150400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:179137200-179149000	Weak transcription	GM12878-XiMat	blood
20	chr3:179137400-179156400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:179139200-179145000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:179139800-179149200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr3:179139800-179149400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:179139800-179150400	Weak transcription	Brain Substantia Nigra	brain
25	chr3:179139800-179153200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:179140400-179145200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:179140800-179145000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr3:179141000-179144800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:179141000-179145000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr3:179141000-179145200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:179141000-179145200	Strong transcription	HUVEC	blood vessel
32	chr3:179141000-179145400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:179141000-179145800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:179141800-179145000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:179142000-179149400	Weak transcription	Liver	Liver
36	chr3:179142000-179149600	Weak transcription	Thymus	Thymus
37	chr3:179142200-179156400	Weak transcription	K562	blood
38	chr3:179142800-179149200	Weak transcription	Fetal Thymus	thymus
39	chr3:179143000-179149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:179143000-179163800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:179143200-179146600	Weak transcription	Left Ventricle	heart
42	chr3:179143200-179146600	Weak transcription	Right Ventricle	heart
43	chr3:179143200-179146800	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:179143200-179146800	Weak transcription	Spleen	Spleen
45	chr3:179143200-179147000	Weak transcription	Lung	lung
46	chr3:179143200-179147200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:179143200-179147200	Weak transcription	NHEK	skin
48	chr3:179143200-179147400	Weak transcription	HMEC	breast
49	chr3:179143200-179149000	Weak transcription	Primary B cells from cord blood	blood
50	chr3:179143200-179149200	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links