Variant report

Variant	rs4987953
Chromosome Location	chr11:108125069-108125070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108124165..108125680-chr11:108126774..108128803,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11212629	1.00[AMR][1000 genomes]
rs11821287	1.00[AMR][1000 genomes]
rs11824991	1.00[AMR][1000 genomes]
rs2227924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2229019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3212321	1.00[AMR][1000 genomes]
rs3218673	1.00[AMR][1000 genomes]
rs3218677	1.00[AMR][1000 genomes]
rs3218687	1.00[AMR][1000 genomes]
rs3218710	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987897	1.00[AMR][1000 genomes]
rs4987912	1.00[AMR][1000 genomes]
rs4987930	1.00[AMR][1000 genomes]
rs4987932	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4987940	1.00[AMR][1000 genomes]
rs4987942	1.00[AMR][1000 genomes]
rs4987963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988024	1.00[AMR][1000 genomes]
rs4988032	1.00[AMR][1000 genomes]
rs4988035	1.00[AMR][1000 genomes]
rs4988040	1.00[AMR][1000 genomes]
rs4988043	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4988059	1.00[AMR][1000 genomes]
rs4988068	1.00[AMR][1000 genomes]
rs4988077	1.00[AMR][1000 genomes]
rs4988121	1.00[AMR][1000 genomes]
rs4988132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55760417	1.00[AMR][1000 genomes]
rs55973324	1.00[AMR][1000 genomes]
rs55982799	1.00[AMR][1000 genomes]
rs56833752	1.00[AMR][1000 genomes]
rs56964917	1.00[AMR][1000 genomes]
rs57567061	1.00[AMR][1000 genomes]
rs57627058	1.00[AMR][1000 genomes]
rs58765943	1.00[AMR][1000 genomes]
rs59559366	1.00[AMR][1000 genomes]
rs60358760	1.00[AMR][1000 genomes]
rs61144945	1.00[AMR][1000 genomes]
rs61504979	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv556430	chr11:108097333-108175462	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv898385	chr11:108123189-108165736	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr11:108094800-108147400	Weak transcription	Esophagus	oesophagus
2	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:108096000-108148600	Weak transcription	Fetal Heart	heart
4	chr11:108096400-108156400	Weak transcription	NHLF	lung
5	chr11:108096600-108128400	Weak transcription	Pancreas	Pancrea
6	chr11:108097000-108129200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:108098400-108131600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:108099800-108139000	Weak transcription	Hela-S3	cervix
9	chr11:108100600-108128200	Weak transcription	K562	blood
10	chr11:108101200-108128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:108101600-108130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:108104200-108130000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:108104200-108147400	Weak transcription	Gastric	stomach
14	chr11:108104600-108144000	Weak transcription	Lung	lung
15	chr11:108105600-108130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:108108200-108144200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:108108400-108184800	Weak transcription	NHEK	skin
18	chr11:108108600-108125400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:108108600-108128000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr11:108108800-108147600	Weak transcription	Psoas Muscle	Psoas
21	chr11:108109600-108130600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:108111400-108125800	Weak transcription	Thymus	Thymus
23	chr11:108111400-108128400	Weak transcription	Small Intestine	intestine
24	chr11:108112800-108131400	Strong transcription	Primary B cells from cord blood	blood
25	chr11:108113200-108130600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:108113600-108131800	Strong transcription	Dnd41	blood
27	chr11:108113800-108147200	Weak transcription	Aorta	Aorta
28	chr11:108114200-108125400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:108114200-108126800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:108114800-108130400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:108114800-108131800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:108115000-108132800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:108117000-108131400	Strong transcription	Liver	Liver
34	chr11:108117000-108131400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr11:108117200-108130400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:108117400-108130400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:108117400-108131400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr11:108117400-108131600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:108117400-108132200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:108117600-108125200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:108117600-108127200	Weak transcription	Fetal Brain Male	brain
42	chr11:108117600-108131200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:108117600-108131400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr11:108117800-108130800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:108117800-108131200	Strong transcription	Placenta	Placenta
46	chr11:108117800-108131600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:108118000-108126800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr11:108118200-108132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:108118400-108131800	Strong transcription	Fetal Thymus	thymus
50	chr11:108118600-108132200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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