Variant report

Variant	rs11118490
Chromosome Location	chr1:220210273-220210274
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220204428..220207144-chr1:220209428..220212102,2	MCF-7	breast:
2	chr1:220209718..220212778-chr1:220216575..220219154,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10495143	0.84[AMR][1000 genomes]
rs10779393	0.84[AMR][1000 genomes]
rs10863523	0.84[AMR][1000 genomes]
rs10863525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863526	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118483	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12022181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12046562	0.83[AMR][1000 genomes]
rs12057468	0.82[AMR][1000 genomes]
rs12068478	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2270709	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28758924	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3767658	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55675937	0.80[ASN][1000 genomes]
rs57884703	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61830370	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61830400	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61830404	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674466	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6686451	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7539497	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv3388149	chr1:220205606-220233828	Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220166400-220210600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr1:220167800-220211800	Weak transcription	Stomach Mucosa	stomach
3	chr1:220168400-220213800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:220170400-220218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:220172600-220218600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:220178000-220217800	Weak transcription	Pancreas	Pancrea
7	chr1:220178200-220218600	Weak transcription	Right Ventricle	heart
8	chr1:220187200-220216800	Weak transcription	Fetal Heart	heart
9	chr1:220187400-220216800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:220190800-220210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:220193600-220218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:220194800-220211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:220194800-220211800	Weak transcription	Esophagus	oesophagus
14	chr1:220194800-220212200	Weak transcription	Aorta	Aorta
15	chr1:220196400-220211600	Weak transcription	Gastric	stomach
16	chr1:220196400-220218200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:220196600-220212200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:220197200-220217800	Weak transcription	Colonic Mucosa	Colon
19	chr1:220197400-220212000	Weak transcription	Small Intestine	intestine
20	chr1:220197600-220211800	Weak transcription	Spleen	Spleen
21	chr1:220199600-220216800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:220200200-220212200	Strong transcription	GM12878-XiMat	blood
23	chr1:220203400-220218600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:220205000-220212200	Weak transcription	Fetal Kidney	kidney
25	chr1:220205200-220216800	Weak transcription	Fetal Brain Male	brain
26	chr1:220205200-220218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:220206200-220212000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:220206200-220212000	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:220206600-220211600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:220206600-220211600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:220206600-220211600	Weak transcription	Left Ventricle	heart
32	chr1:220206600-220211800	Weak transcription	Ovary	ovary
33	chr1:220206600-220211800	Weak transcription	Thymus	Thymus
34	chr1:220206600-220212000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:220206600-220212000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:220206600-220212000	Weak transcription	A549	lung
37	chr1:220206600-220212000	Weak transcription	HSMMtube	muscle
38	chr1:220206600-220217000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:220206800-220211200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:220206800-220211600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:220206800-220211800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:220206800-220211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:220206800-220211800	Weak transcription	Fetal Intestine Small	intestine
44	chr1:220206800-220211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:220206800-220212000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:220206800-220212000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:220206800-220213000	Weak transcription	Psoas Muscle	Psoas
48	chr1:220206800-220218200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220206800-220219000	Weak transcription	Fetal Lung	lung
50	chr1:220207000-220212200	Weak transcription	NHLF	lung

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