Variant report

Variant	rs10495708
Chromosome Location	chr2:20836667-20836668
allele	C/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20643137..20644982-chr2:20835031..20838121,3	K562	blood:
2	chr2:20643137..20644831-chr2:20835031..20837095,2	K562	blood:
3	chr2:20755567..20758118-chr2:20834958..20837655,2	MCF-7	breast:
4	chr2:20633992..20655025-chr2:20829429..20854651,127	MCF-7	breast:
5	chr2:20834621..20842195-chr2:20845758..20852616,8	MCF-7	breast:
6	chr2:20835349..20838099-chr2:20838875..20841328,3	MCF-7	breast:
7	chr2:20636110..20639371-chr2:20834157..20837264,3	MCF-7	breast:
8	chr2:20803733..20805677-chr2:20834978..20836857,2	K562	blood:
9	chr2:20640108..20658716-chr2:20812153..20855311,258	MCF-7	breast:
10	chr2:20795835..20797595-chr2:20834654..20837275,2	K562	blood:
11	chr2:20798617..20801050-chr2:20836301..20838004,2	MCF-7	breast:
12	chr2:20589678..20592610-chr2:20835889..20837423,2	K562	blood:
13	chr2:20550682..20553508-chr2:20835725..20837324,2	K562	blood:
14	chr2:20607947..20609876-chr2:20833960..20836883,2	MCF-7	breast:
15	chr2:20696204..20699095-chr2:20831943..20836872,4	MCF-7	breast:
16	chr2:20551181..20553508-chr2:20834361..20837225,2	K562	blood:
17	chr2:20664677..20667421-chr2:20834049..20837198,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000118960	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000252216	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13003661	0.88[CHB][hapmap]
rs13027694	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs17662465	0.90[CEU][hapmap];0.93[ASN][1000 genomes]
rs17662495	0.90[CEU][hapmap];0.93[ASN][1000 genomes]
rs17662614	0.93[ASN][1000 genomes]
rs17662644	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs17663045	0.95[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17719096	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs17719114	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs17719159	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs34101445	0.91[ASN][1000 genomes]
rs34216303	0.93[ASN][1000 genomes]
rs34405290	0.93[ASN][1000 genomes]
rs35001606	0.93[ASN][1000 genomes]
rs35264816	0.93[ASN][1000 genomes]
rs35311387	0.93[ASN][1000 genomes]
rs35404888	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35527388	0.93[ASN][1000 genomes]
rs35755927	0.93[ASN][1000 genomes]
rs3732150	0.91[CEU][hapmap];0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3732158	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs4456661	0.90[CHB][hapmap]
rs4666441	0.90[CEU][hapmap];0.93[ASN][1000 genomes]
rs56905664	0.93[ASN][1000 genomes]
rs60541580	0.93[ASN][1000 genomes]
rs6531249	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[ASN][1000 genomes]
rs67364128	0.93[ASN][1000 genomes]
rs72782402	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs745687	0.91[CEU][hapmap];0.81[CHB][hapmap];0.93[ASN][1000 genomes]
rs870309	0.89[CHB][hapmap]
rs896736	0.90[CEU][hapmap];0.93[ASN][1000 genomes]
rs9306893	1.00[CHB][hapmap]

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	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1008473	chr2:20811359-20879186	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Active 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	24 gene(s)	inside rSNPs	diseases
3	nsv535599	chr2:20811359-20879186	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv517472	chr2:20814583-20855176	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv873725	chr2:20814583-20855176	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv527901	chr2:20818458-20876386	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv999269	chr2:20824833-20869372	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
8	nsv873726	chr2:20829962-20876260	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20815000-20847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:20817400-20847600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:20817600-20850000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:20818800-20842400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:20819000-20847400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:20819400-20847800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:20820600-20849400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:20820800-20849600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:20823000-20842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:20824600-20837400	Weak transcription	Thymus	Thymus
11	chr2:20824600-20837800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:20824600-20839000	Weak transcription	Dnd41	blood
13	chr2:20824800-20837400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:20825400-20841000	Weak transcription	Primary B cells from cord blood	blood
15	chr2:20828600-20841800	Strong transcription	Primary T cells from cord blood	blood
16	chr2:20828800-20847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:20832400-20836800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:20832600-20837800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:20832600-20850000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:20833000-20837400	Enhancers	Stomach Mucosa	stomach
21	chr2:20833000-20841800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:20833400-20837200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:20833600-20837600	Enhancers	Liver	Liver
24	chr2:20833800-20837400	Genic enhancers	Fetal Stomach	stomach
25	chr2:20833800-20842000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:20833800-20843000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:20834000-20838400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:20834000-20839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:20834400-20842000	Weak transcription	Fetal Thymus	thymus
30	chr2:20834600-20837200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:20834800-20841000	Weak transcription	Hela-S3	cervix
32	chr2:20834800-20841800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:20834800-20849600	Weak transcription	Small Intestine	intestine
34	chr2:20835200-20839000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:20835400-20841400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:20835400-20849800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:20835600-20836800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:20835600-20837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:20835600-20840000	Weak transcription	Osteobl	bone
40	chr2:20835600-20840200	Weak transcription	Fetal Brain Female	brain
41	chr2:20835600-20840600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:20835600-20840600	Weak transcription	NH-A	brain
43	chr2:20835600-20840800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:20835600-20841200	Weak transcription	HSMM	muscle
45	chr2:20835600-20842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:20835600-20847400	Weak transcription	HSMMtube	muscle
47	chr2:20835600-20847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:20835600-20848800	Weak transcription	Fetal Lung	lung
49	chr2:20835600-20849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:20835600-20849800	Weak transcription	Fetal Heart	heart

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