Variant report

Variant	rs11236997
Chromosome Location	chr11:76595877-76595878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76589259..76594319-chr11:76594375..76597677,6	K562	blood:
2	chr11:76595561..76597799-chr11:76599366..76601311,2	K562	blood:
3	chr11:76570485..76573468-chr11:76594453..76596936,2	MCF-7	breast:
4	chr11:76571826..76573496-chr11:76592749..76596697,3	K562	blood:
5	chr11:76589259..76593591-chr11:76594375..76597317,5	K562	blood:
6	chr11:76459642..76462413-chr11:76595448..76597077,2	K562	blood:

Variant related genes	Relation type
ENSG00000212030	Chromatin interaction
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10899293	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899314	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11237030	0.81[EUR][1000 genomes]
rs11602065	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11606467	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12223477	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17812687	0.84[AFR][1000 genomes]
rs2048954	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2187499	0.84[AFR][1000 genomes]
rs2279518	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2372387	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3740766	0.84[AFR][1000 genomes]
rs3740768	0.81[EUR][1000 genomes]
rs4944130	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4945128	0.84[AFR][1000 genomes]
rs55743360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55798841	0.81[EUR][1000 genomes]
rs55977032	0.84[AFR][1000 genomes]
rs56129156	0.81[EUR][1000 genomes]
rs56789915	0.81[EUR][1000 genomes]
rs61895512	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61895513	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900090	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61900119	0.84[AFR][1000 genomes]
rs61900120	0.84[AFR][1000 genomes]
rs7115729	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7118398	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518920	chr11:76573016-76637651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76572800-76596400	Weak transcription	Small Intestine	intestine
2	chr11:76573200-76596600	Weak transcription	Right Ventricle	heart
3	chr11:76573200-76600400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:76573200-76601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:76574200-76599800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:76580000-76596800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:76580200-76596400	Weak transcription	Lung	lung
8	chr11:76580400-76596600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:76580800-76596400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:76581000-76602200	Weak transcription	Primary B cells from cord blood	blood
11	chr11:76581200-76613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:76581600-76600000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:76581800-76600200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:76586000-76596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:76587800-76599600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:76591600-76596000	Weak transcription	NHDF-Ad	bronchial
17	chr11:76591600-76596400	Weak transcription	Psoas Muscle	Psoas
18	chr11:76592000-76596400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:76592000-76596400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:76592000-76596400	Weak transcription	Left Ventricle	heart
21	chr11:76592000-76599800	Weak transcription	Fetal Heart	heart
22	chr11:76592200-76596000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:76592200-76596400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:76592200-76596400	Weak transcription	Placenta	Placenta
25	chr11:76593800-76597400	Enhancers	Brain Hippocampus Middle	brain
26	chr11:76594600-76597000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:76594800-76597000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:76594800-76597000	Enhancers	Brain Anterior Caudate	brain
29	chr11:76594800-76597600	Enhancers	NHEK	skin
30	chr11:76594800-76602600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:76595000-76596200	Enhancers	HUVEC	blood vessel
32	chr11:76595000-76596400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:76595000-76596400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:76595000-76596800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:76595000-76597400	Enhancers	Brain Substantia Nigra	brain
36	chr11:76595200-76597000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:76595400-76596600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:76595400-76597000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:76595400-76597800	Enhancers	HMEC	breast
40	chr11:76595400-76602800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:76595600-76596200	Weak transcription	Adipose Nuclei	Adipose
42	chr11:76595600-76596400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:76595600-76597400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:76595600-76599000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:76595800-76596200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:76595800-76596400	Weak transcription	Brain Angular Gyrus	brain
47	chr11:76595800-76596800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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