Variant report

Variant	rs60100816
Chromosome Location	chr3:46992272-46992273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46988980..46994216-chr3:47016439..47022535,7	K562	blood:
2	chr3:46988617..46992704-chr3:46994196..46998366,6	K562	blood:
3	chr3:46987488..46994423-chr3:47016253..47019914,6	MCF-7	breast:
4	chr3:46990736..46992416-chr3:47023933..47026692,2	K562	blood:

Variant related genes	Relation type
ENSG00000160796	Chromatin interaction
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs55633581	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55646108	1.00[AMR][1000 genomes]
rs55727789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55730344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55832326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56329054	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57341796	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58040348	1.00[AMR][1000 genomes]
rs58529346	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58558054	1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs59614145	1.00[AMR][1000 genomes]
rs59846120	1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs73831407	0.83[AFR][1000 genomes]
rs73831409	1.00[AMR][1000 genomes]
rs73831411	1.00[AMR][1000 genomes]
rs73831412	1.00[AMR][1000 genomes]
rs73831414	1.00[AMR][1000 genomes]
rs73831415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831421	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	1.00[AMR][1000 genomes]
rs73831471	1.00[AMR][1000 genomes]
rs73831472	1.00[AMR][1000 genomes]
rs73831474	1.00[AMR][1000 genomes]
rs73831477	1.00[AMR][1000 genomes]
rs73831479	1.00[AMR][1000 genomes]
rs73831480	1.00[AMR][1000 genomes]
rs73831481	1.00[AMR][1000 genomes]
rs73831483	1.00[AMR][1000 genomes]
rs73831485	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS 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	25 gene(s)	inside rSNPs	diseases
4	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46977000-47000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:46979600-46994600	Genic enhancers	Fetal Thymus	thymus
3	chr3:46982800-46992600	Enhancers	Left Ventricle	heart
4	chr3:46983000-46992600	Enhancers	Small Intestine	intestine
5	chr3:46983200-46992400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:46983600-46992600	Enhancers	Psoas Muscle	Psoas
7	chr3:46983600-46992600	Enhancers	Right Atrium	heart
8	chr3:46983600-46994000	Enhancers	HUVEC	blood vessel
9	chr3:46984200-46996400	Enhancers	Liver	Liver
10	chr3:46985000-46992600	Enhancers	Right Ventricle	heart
11	chr3:46985600-46995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:46985800-46994200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:46985800-47004400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr3:46986800-46992600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr3:46987600-46994800	Enhancers	Fetal Intestine Large	intestine
16	chr3:46988000-46992400	Enhancers	Fetal Heart	heart
17	chr3:46988000-46992600	Enhancers	Placenta	Placenta
18	chr3:46988000-46994200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:46988000-47003200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:46988200-46992600	Enhancers	Lung	lung
21	chr3:46988400-46994600	Genic enhancers	Dnd41	blood
22	chr3:46988600-46994400	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:46989000-46992600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr3:46989200-46992600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:46989200-46995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:46989600-46992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:46989600-46993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:46989800-46992800	Enhancers	Primary B cells from cord blood	blood
29	chr3:46989800-46992800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:46989800-46993200	Enhancers	Adipose Nuclei	Adipose
31	chr3:46989800-46993800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:46989800-46995200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:46989800-46998600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:46989800-47000600	Weak transcription	Brain Germinal Matrix	brain
35	chr3:46989800-47000600	Weak transcription	NHDF-Ad	bronchial
36	chr3:46989800-47001200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:46990000-46992600	Enhancers	Spleen	Spleen
38	chr3:46990000-46992800	Enhancers	Primary B cells from peripheral blood	blood
39	chr3:46990000-46995400	Weak transcription	HSMMtube	muscle
40	chr3:46990000-47006800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:46990200-46992600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:46990200-46995200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:46990200-46995400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:46990200-46998200	Weak transcription	Aorta	Aorta
45	chr3:46990200-47000800	Weak transcription	Fetal Brain Female	brain
46	chr3:46990400-46992800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:46990400-47000000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr3:46990600-46992800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr3:46990600-46993000	Enhancers	Primary T cells from cord blood	blood
50	chr3:46990600-46993000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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