Variant report

Variant	rs72827717
Chromosome Location	chr2:99386537-99386538
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99344922..99348721-chr2:99382903..99389092,6	MCF-7	breast:
2	chr2:99385437..99388262-chr2:99414976..99417069,2	MCF-7	breast:
3	chr2:99345368..99349321-chr2:99385005..99390572,6	MCF-7	breast:
4	chr2:99384896..99387607-chr2:99394803..99397192,2	MCF-7	breast:
5	chr2:99224143..99225880-chr2:99384607..99386778,2	MCF-7	breast:
6	chr2:99386151..99388080-chr2:99407312..99410170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183513	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000071073	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10496330	0.93[EUR][1000 genomes]
rs13000014	0.83[ASN][1000 genomes]
rs17021941	0.89[ASN][1000 genomes]
rs1877905	0.93[EUR][1000 genomes]
rs2871243	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3731660	0.84[ASN][1000 genomes]
rs58560917	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59313126	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59989465	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60496162	1.00[AMR][1000 genomes]
rs61042973	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61311613	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61359279	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72811003	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72811004	0.82[ASN][1000 genomes]
rs72811005	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72825780	0.93[EUR][1000 genomes]
rs72825782	0.93[EUR][1000 genomes]
rs72825784	0.93[EUR][1000 genomes]
rs72825789	0.93[EUR][1000 genomes]
rs72825790	0.93[EUR][1000 genomes]
rs72825800	0.93[EUR][1000 genomes]
rs72825801	0.93[EUR][1000 genomes]
rs72827704	0.93[EUR][1000 genomes]
rs72827705	0.93[EUR][1000 genomes]
rs72827707	0.93[EUR][1000 genomes]
rs72827708	0.93[EUR][1000 genomes]
rs72827713	0.93[EUR][1000 genomes]
rs72827722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827727	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72827729	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827731	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827732	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827733	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72827734	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72827739	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72827741	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72827743	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7561818	0.83[ASN][1000 genomes]
rs7573844	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99373800-99388000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:99378400-99389400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:99378800-99388200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:99379200-99388200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:99379400-99388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:99380600-99387400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:99380600-99387400	Weak transcription	Adipose Nuclei	Adipose
8	chr2:99382000-99386800	Enhancers	GM12878-XiMat	blood
9	chr2:99383800-99387000	Enhancers	HUVEC	blood vessel
10	chr2:99384200-99386600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:99384400-99389800	Flanking Active TSS	Dnd41	blood
12	chr2:99384800-99386800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr2:99384800-99388400	Enhancers	Placenta	Placenta
14	chr2:99385000-99386600	Enhancers	Lung	lung
15	chr2:99385000-99386600	Flanking Active TSS	HepG2	liver
16	chr2:99385000-99386800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:99385000-99388000	Enhancers	Pancreas	Pancrea
18	chr2:99385000-99389400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:99385200-99386600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:99385200-99386600	Enhancers	Fetal Brain Male	brain
21	chr2:99385200-99386800	Enhancers	Stomach Mucosa	stomach
22	chr2:99385200-99388200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:99385400-99386600	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:99385400-99386800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:99385400-99387000	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:99385400-99388200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:99385600-99386800	Enhancers	Gastric	stomach
28	chr2:99385600-99387400	Weak transcription	Spleen	Spleen
29	chr2:99385800-99387600	Weak transcription	Liver	Liver
30	chr2:99385800-99387600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:99385800-99388200	Weak transcription	HMEC	breast
32	chr2:99385800-99394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:99385800-99410400	Weak transcription	Right Atrium	heart
34	chr2:99386000-99387800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:99386000-99388400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:99386200-99386600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:99386200-99386600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr2:99386200-99386600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:99386200-99386600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:99386200-99386600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:99386200-99386600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:99386200-99386800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:99386200-99386800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:99386200-99386800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr2:99386200-99386800	Flanking Active TSS	Thymus	Thymus
46	chr2:99386200-99387000	Enhancers	Small Intestine	intestine
47	chr2:99386200-99389000	Flanking Active TSS	Fetal Thymus	thymus
48	chr2:99386200-99389200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:99386200-99391600	Weak transcription	Fetal Brain Female	brain
50	chr2:99386400-99386600	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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