Variant report

Variant	rs11236388
Chromosome Location	chr11:75013792-75013793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75012341..75015302-chr11:75017194..75019395,2	K562	blood:
2	chr11:75013016..75016949-chr11:75020139..75024522,5	K562	blood:
3	chr11:75012111..75014320-chr11:75017142..75019684,2	MCF-7	breast:
4	chr11:75012267..75014188-chr11:75014628..75018694,5	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11236390	0.81[EUR][1000 genomes]
rs12360620	0.81[EUR][1000 genomes]
rs1320709	0.89[CEU][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs1621185	0.91[EUR][1000 genomes]
rs1676884	0.89[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs1676886	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs1789681	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs1789687	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1789688	0.80[EUR][1000 genomes]
rs1789689	0.91[EUR][1000 genomes]
rs34559163	0.91[EUR][1000 genomes]
rs34796507	0.91[EUR][1000 genomes]
rs35927438	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74996800-75017800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:74998600-75020200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:74998600-75021000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:74998800-75041400	Weak transcription	Brain Germinal Matrix	brain
5	chr11:75000200-75037600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr11:75000400-75033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:75000600-75021400	Weak transcription	HSMMtube	muscle
8	chr11:75000800-75016600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:75000800-75018800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:75000800-75023000	Weak transcription	Ovary	ovary
11	chr11:75001000-75014800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:75001600-75019200	Weak transcription	HepG2	liver
13	chr11:75001600-75019800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:75003000-75018600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:75004800-75015200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:75005000-75013800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:75005200-75015800	Weak transcription	Placenta	Placenta
18	chr11:75005200-75016600	Weak transcription	K562	blood
19	chr11:75005200-75018600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:75005200-75026000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:75005200-75026400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:75005200-75033000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:75007000-75020200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:75007600-75018600	Weak transcription	Fetal Lung	lung
25	chr11:75007800-75022600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:75008600-75017600	Weak transcription	Primary T cells from cord blood	blood
27	chr11:75008600-75020200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:75009600-75022800	Weak transcription	A549	lung
29	chr11:75010000-75013800	Enhancers	Fetal Brain Male	brain
30	chr11:75010600-75025000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:75011400-75015000	Enhancers	Pancreas	Pancrea
32	chr11:75012200-75013800	Enhancers	Brain Anterior Caudate	brain
33	chr11:75012200-75013800	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:75012200-75013800	Enhancers	Fetal Heart	heart
35	chr11:75012200-75013800	Genic enhancers	Fetal Intestine Small	intestine
36	chr11:75012200-75013800	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:75012200-75013800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr11:75012200-75014000	Enhancers	Adipose Nuclei	Adipose
39	chr11:75012200-75014000	Enhancers	Fetal Muscle Leg	muscle
40	chr11:75012200-75014000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:75012200-75014000	Enhancers	Right Ventricle	heart
42	chr11:75012200-75014000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:75012200-75014000	Enhancers	Stomach Mucosa	stomach
44	chr11:75012200-75014400	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:75012200-75014400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:75012200-75015000	Enhancers	Brain Angular Gyrus	brain
47	chr11:75012200-75019200	Enhancers	Brain Hippocampus Middle	brain
48	chr11:75012200-75026600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:75012400-75013800	Enhancers	Liver	Liver
50	chr11:75012400-75013800	Flanking Active TSS	Stomach Smooth Muscle	stomach

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