Variant report

Variant	rs36047809
Chromosome Location	chr1:10926966-10926967
allele	G/T
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10568670..10571119-chr1:10926842..10928478,2	K562	blood:
2	chr1:10576160..10578872-chr1:10926632..10929593,2	MCF-7	breast:
3	chr1:10567095..10568153-chr1:10926865..10927880,8	K562	blood:
4	chr1:10489961..10490892-chr1:10926816..10927795,3	K562	blood:
5	chr1:10751694..10755124-chr1:10925813..10928871,3	MCF-7	breast:
6	chr1:10925966..10930455-chr1:10932404..10937595,5	K562	blood:
7	chr1:10562142..10564951-chr1:10926770..10929049,2	K562	blood:
8	chr1:10892514..10895346-chr1:10924391..10927017,2	K562	blood:
9	chr1:10752227..10753991-chr1:10926922..10928500,5	MCF-7	breast:
10	chr1:10919663..10923359-chr1:10925488..10928766,3	MCF-7	breast:
11	chr1:10554756..10555464-chr1:10926875..10927459,2	K562	blood:
12	chr1:10754807..10756455-chr1:10925799..10928452,2	MCF-7	breast:
13	chr1:10926964..10929247-chr1:10959901..10962873,4	MCF-7	breast:
14	chr1:10895615..10898736-chr1:10923813..10928307,5	K562	blood:
15	chr1:10574408..10575004-chr1:10926842..10927727,2	K562	blood:
16	chr1:10926420..10929831-chr1:10932404..10934606,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271989	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000130940	Chromatin interaction
ENSG00000251503	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12023250	0.85[ASN][1000 genomes]
rs12028719	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12030479	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12033201	0.87[EUR][1000 genomes]
rs12048262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12048967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12142503	1.00[AMR][1000 genomes]
rs12724489	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12724989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12731652	1.00[AMR][1000 genomes]
rs12740860	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34217099	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34542452	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34896200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35126763	1.00[AMR][1000 genomes]
rs35236487	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35261279	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35414554	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35677622	1.00[AMR][1000 genomes]
rs35858703	1.00[AMR][1000 genomes]
rs71509069	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv871617	chr1:10858746-10935232	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv871155	chr1:10858746-10998509	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832425	chr1:10903845-11122975	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv545406	chr1:10915507-10935232	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3372885	chr1:10925565-10927613	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3355758	chr1:10925990-10928738	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10925800-10928000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:10926000-10927800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr1:10926000-10927800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr1:10926000-10927800	Enhancers	Fetal Heart	heart
5	chr1:10926000-10928600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr1:10926200-10927600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:10926200-10927600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:10926200-10927800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:10926400-10927000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr1:10926400-10927800	Enhancers	Lung	lung
11	chr1:10926400-10928000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
12	chr1:10926400-10928000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:10926400-10928400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:10926600-10927000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:10926600-10927000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:10926600-10927000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
20	chr1:10926600-10927000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:10926600-10927000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
24	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:10926600-10927000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:10926600-10927000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:10926600-10927000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:10926600-10927000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:10926600-10927000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
33	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
34	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
35	chr1:10926600-10927000	Bivalent Enhancer	Stomach Mucosa	stomach
36	chr1:10926600-10927000	Bivalent Enhancer	GM12878-XiMat	blood
37	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr1:10926600-10927000	Flanking Bivalent TSS/Enh	NH-A	brain
39	chr1:10926600-10927200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr1:10926600-10927200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:10926600-10927200	Bivalent Enhancer	Small Intestine	intestine
42	chr1:10926600-10927200	Bivalent Enhancer	Spleen	Spleen
43	chr1:10926600-10927400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:10926600-10927400	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr1:10926600-10927400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
46	chr1:10926600-10927400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr1:10926600-10927400	Bivalent/Poised TSS	Osteobl	bone
48	chr1:10926600-10927600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:10926600-10927600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:10926600-10927600	Enhancers	Pancreas	Pancrea

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