Variant report

Variant	rs73831449
Chromosome Location	chr3:47013227-47013228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47012813..47013395-chr3:47039576..47040269,2	K562	blood:
2	chr3:47007836..47011318-chr3:47011441..47014509,4	MCF-7	breast:
3	chr3:46995234..46997010-chr3:47011388..47013253,2	K562	blood:
4	chr3:47001947..47004283-chr3:47011185..47013637,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

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]
rs57114752	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]
rs60100816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60444519	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]
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:8 , 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	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
3	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
4	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
5	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
6	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
7	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr3:47003200-47015800	Weak transcription	Fetal Brain Male	brain
2	chr3:47003200-47016800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:47004800-47017200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:47004800-47017200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr3:47006400-47013600	Genic enhancers	Fetal Intestine Small	intestine
6	chr3:47006600-47013400	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr3:47006600-47014400	Genic enhancers	Fetal Thymus	thymus
8	chr3:47006600-47017000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr3:47006800-47013600	Genic enhancers	Lung	lung
10	chr3:47006800-47014600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:47007000-47017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:47007200-47013800	Enhancers	Fetal Heart	heart
13	chr3:47007200-47017400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:47007400-47013800	Strong transcription	Fetal Stomach	stomach
15	chr3:47007600-47013800	Enhancers	Pancreas	Pancrea
16	chr3:47007600-47014600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:47007600-47014800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:47007600-47016200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:47007600-47017200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:47007600-47017200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:47007600-47017400	Weak transcription	HSMMtube	muscle
22	chr3:47007800-47013600	Enhancers	Adipose Nuclei	Adipose
23	chr3:47008000-47013400	Enhancers	Right Ventricle	heart
24	chr3:47008200-47013400	Enhancers	Ovary	ovary
25	chr3:47008200-47013400	Enhancers	Right Atrium	heart
26	chr3:47008200-47014600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr3:47008400-47015600	Weak transcription	Hela-S3	cervix
28	chr3:47008600-47013600	Enhancers	Brain Hippocampus Middle	brain
29	chr3:47009200-47017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr3:47009400-47014800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr3:47010000-47013400	Strong transcription	NHEK	skin
32	chr3:47010200-47013400	Genic enhancers	Primary T cells from cord blood	blood
33	chr3:47010200-47013400	Enhancers	Brain Anterior Caudate	brain
34	chr3:47010200-47013600	Enhancers	Colon Smooth Muscle	Colon
35	chr3:47010200-47014400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:47010200-47014400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr3:47010400-47013400	Genic enhancers	Placenta	Placenta
38	chr3:47010400-47013600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:47010400-47013600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:47010400-47013600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:47010400-47013800	Genic enhancers	Fetal Muscle Leg	muscle
42	chr3:47010400-47014200	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr3:47010600-47013400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:47010600-47013400	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr3:47010600-47013400	Enhancers	Left Ventricle	heart
46	chr3:47010600-47015400	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr3:47011000-47013600	Genic enhancers	Fetal Intestine Large	intestine
48	chr3:47011200-47014600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr3:47011200-47015600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:47011200-47017200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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