Variant report

Variant	rs11700575
Chromosome Location	chr21:45327750-45327751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45317264..45322147-chr21:45323792..45330212,11	K562	blood:
2	chr21:45326835..45328852-chr21:45330580..45332384,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2070546	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs2070548	0.89[ASW][hapmap];0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.82[TSI][hapmap];0.87[ASN][1000 genomes]
rs2070549	0.85[ASN][1000 genomes]
rs2838433	0.89[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2838434	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788075	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3788082	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs4819337	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4819338	0.81[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4819339	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4819341	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58565118	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59355960	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60216010	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60316193	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7278539	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73226931	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9647250	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9975713	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9983066	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active 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	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv19383	chr21:45326239-45334057	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11700575	C21orf88	cis	parietal	SCAN

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:45305000-45328000	Weak transcription	NHEK	skin
4	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
5	chr21:45309800-45330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:45314000-45330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr21:45314400-45332000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:45314800-45329600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:45314800-45336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:45316600-45336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr21:45319200-45328400	Weak transcription	A549	lung
12	chr21:45319400-45328800	Weak transcription	HepG2	liver
13	chr21:45319600-45331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:45319800-45331000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:45319800-45331800	Weak transcription	Brain Germinal Matrix	brain
16	chr21:45320000-45332400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr21:45321000-45327800	Weak transcription	Brain Anterior Caudate	brain
18	chr21:45321000-45331400	Weak transcription	Brain Substantia Nigra	brain
19	chr21:45322600-45328000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr21:45323000-45331800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr21:45323200-45328200	Weak transcription	Brain Angular Gyrus	brain
22	chr21:45323200-45332400	Weak transcription	Hela-S3	cervix
23	chr21:45323400-45328400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr21:45323400-45328800	Strong transcription	Primary T cells from cord blood	blood
25	chr21:45323400-45329200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45323600-45327800	Strong transcription	Fetal Intestine Small	intestine
27	chr21:45323600-45327800	Weak transcription	Stomach Mucosa	stomach
28	chr21:45323600-45328600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr21:45323600-45331800	Strong transcription	Fetal Stomach	stomach
30	chr21:45323800-45328800	Strong transcription	Thymus	Thymus
31	chr21:45323800-45329600	Weak transcription	Small Intestine	intestine
32	chr21:45323800-45332000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr21:45323800-45332400	Weak transcription	HUVEC	blood vessel
34	chr21:45324000-45327800	Weak transcription	Fetal Heart	heart
35	chr21:45324000-45327800	Weak transcription	Gastric	stomach
36	chr21:45324000-45328400	Weak transcription	Fetal Lung	lung
37	chr21:45324000-45336000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr21:45324200-45328000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45324200-45328000	Strong transcription	Esophagus	oesophagus
40	chr21:45324200-45328800	Strong transcription	Rectal Smooth Muscle	rectum
41	chr21:45324200-45332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:45324400-45327800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr21:45324400-45328800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr21:45324400-45331400	Weak transcription	Psoas Muscle	Psoas
45	chr21:45324400-45332600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr21:45324600-45327800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr21:45324600-45327800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr21:45324600-45328000	Strong transcription	Fetal Intestine Large	intestine
49	chr21:45324600-45328400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:45324600-45328600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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