Variant report

Variant	rs72799481
Chromosome Location	chr2:39367217-39367218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39357363..39365432-chr2:39365480..39370907,10	K562	blood:
2	chr2:39358031..39362725-chr2:39365919..39368876,6	K562	blood:
3	chr2:39350197..39353895-chr2:39366546..39369834,4	K562	blood:
4	chr2:39365690..39368477-chr2:39371747..39373602,2	K562	blood:
5	chr2:39358218..39360682-chr2:39365884..39367723,2	MCF-7	breast:
6	chr2:39367193..39370444-chr2:39377653..39381134,4	K562	blood:
7	chr2:39346665..39348977-chr2:39364788..39368168,3	K562	blood:
8	chr2:39346562..39349811-chr2:39366673..39370097,4	MCF-7	breast:
9	chr2:39286620..39288216-chr2:39365040..39367275,2	MCF-7	breast:
10	chr2:39365690..39369940-chr2:39371697..39373602,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11124658	1.00[ASN][1000 genomes]
rs11682081	1.00[ASN][1000 genomes]
rs11684665	1.00[ASN][1000 genomes]
rs12478214	1.00[ASN][1000 genomes]
rs72799415	1.00[ASN][1000 genomes]
rs72799416	1.00[ASN][1000 genomes]
rs72799421	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72799430	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72799436	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72799489	1.00[ASN][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	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
12	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39352800-39368600	Weak transcription	HMEC	breast
2	chr2:39363200-39367400	Weak transcription	GM12878-XiMat	blood
3	chr2:39363600-39368800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:39363600-39371400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:39364200-39368400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:39364200-39368400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:39364800-39369200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:39366000-39367400	Enhancers	Hela-S3	cervix
9	chr2:39366000-39368000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:39366200-39367600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:39366200-39367600	Enhancers	A549	lung
12	chr2:39366200-39369000	Weak transcription	Aorta	Aorta
13	chr2:39366200-39370000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:39366400-39367600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:39366400-39368000	Weak transcription	Placenta	Placenta
16	chr2:39366400-39368600	Enhancers	K562	blood
17	chr2:39366600-39367800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:39366600-39369400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:39366800-39367600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:39366800-39367600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:39366800-39367600	Enhancers	Dnd41	blood
22	chr2:39366800-39368200	Enhancers	Fetal Intestine Large	intestine
23	chr2:39366800-39369200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:39366800-39371200	Enhancers	Primary B cells from peripheral blood	blood
25	chr2:39366800-39372400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:39367000-39367600	Enhancers	Fetal Intestine Small	intestine
27	chr2:39367000-39367800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:39367000-39368800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:39367000-39369400	Enhancers	Fetal Heart	heart
30	chr2:39367000-39370800	Enhancers	Primary B cells from cord blood	blood
31	chr2:39367200-39367600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:39367200-39367600	Flanking Active TSS	HepG2	liver
33	chr2:39367200-39368400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:39367200-39368400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:39367200-39368400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:39367200-39368400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:39367200-39368600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:39367200-39368800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:39367200-39369000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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