Variant report

Variant	rs11088448
Chromosome Location	chr21:40168435-40168436
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40105541..40106641-chr21:40167843..40169143,4	K562	blood:
2	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
3	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
4	chr21:40165875..40171413-chr21:40174363..40179390,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

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

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

rs_ID	r²[population]
rs1013777	0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1041781	0.89[ASN][1000 genomes]
rs1041782	0.89[ASN][1000 genomes]
rs1209916	0.81[ASN][1000 genomes]
rs1209917	0.83[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1209918	0.80[ASN][1000 genomes]
rs1209919	0.80[ASN][1000 genomes]
rs1209920	0.80[ASN][1000 genomes]
rs1209921	0.80[ASN][1000 genomes]
rs1209922	0.81[ASN][1000 genomes]
rs1209923	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1209924	0.81[ASN][1000 genomes]
rs1209925	0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1209926	0.83[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1209927	0.83[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs1209928	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1209929	0.84[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1209931	0.84[ASN][1000 genomes]
rs1209932	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1209933	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1209934	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1209935	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1209936	0.85[ASN][1000 genomes]
rs1209937	0.84[ASN][1000 genomes]
rs1209938	0.87[ASN][1000 genomes]
rs1209939	0.87[ASN][1000 genomes]
rs1209940	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1209942	0.89[ASN][1000 genomes]
rs1209943	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1209944	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1209945	0.89[ASN][1000 genomes]
rs1209946	0.89[ASN][1000 genomes]
rs1209947	0.88[ASN][1000 genomes]
rs12626796	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13047789	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1309152	0.83[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2156422	0.83[CHB][hapmap]
rs2256290	0.83[CHB][hapmap]
rs2283638	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283639	0.86[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs714781	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[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	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3348986	chr21:40167994-40168517	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
2	chr21:40163000-40170400	Weak transcription	Colonic Mucosa	Colon
3	chr21:40163000-40171400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr21:40163400-40175400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:40164400-40171200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
7	chr21:40165600-40171000	Enhancers	HepG2	liver
8	chr21:40165800-40169200	Enhancers	Hela-S3	cervix
9	chr21:40166200-40170800	Weak transcription	Small Intestine	intestine
10	chr21:40166400-40175400	Enhancers	Fetal Intestine Small	intestine
11	chr21:40166400-40176000	Weak transcription	Pancreas	Pancrea
12	chr21:40166600-40177000	Weak transcription	Gastric	stomach
13	chr21:40166800-40171600	Enhancers	NHEK	skin
14	chr21:40167000-40171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:40167000-40174600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr21:40167200-40171600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr21:40167600-40168600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:40167600-40171000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:40167600-40175400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:40167800-40168800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:40167800-40168800	Weak transcription	Stomach Mucosa	stomach
23	chr21:40167800-40169200	Weak transcription	Esophagus	oesophagus
24	chr21:40168000-40169400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr21:40168000-40169800	Enhancers	Fetal Muscle Trunk	muscle
26	chr21:40168200-40168600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:40168200-40169000	Enhancers	Fetal Muscle Leg	muscle
28	chr21:40168200-40170600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:40168200-40171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr21:40168200-40171000	Enhancers	NH-A	brain
31	chr21:40168200-40171200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:40168400-40168600	Enhancers	HUVEC	blood vessel
33	chr21:40168400-40168800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:40168400-40168800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr21:40168400-40168800	Flanking Active TSS	A549	lung
36	chr21:40168400-40169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:40168400-40169000	Enhancers	Fetal Lung	lung
38	chr21:40168400-40169400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:40168400-40169400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:40168400-40169600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr21:40168400-40169800	Enhancers	K562	blood
42	chr21:40168400-40171800	Enhancers	HMEC	breast
43	chr21:40168400-40174000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links