Variant report

Variant	rs499434
Chromosome Location	chr11:120086918-120086919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120085723..120087273-chr11:120102230..120104353,2	K562	blood:
2	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
3	chr11:120080291..120083263-chr11:120085229..120087871,5	MCF-7	breast:
4	chr11:120054397..120057443-chr11:120084852..120087919,3	K562	blood:
5	chr11:120085109..120087647-chr11:120129498..120132466,2	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000184232	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2465653	0.85[ASN][1000 genomes]
rs2845706	0.93[EUR][1000 genomes]
rs2953362	0.85[ASN][1000 genomes]
rs477855	0.80[ASN][1000 genomes]
rs531698	0.94[ASN][1000 genomes]
rs537089	0.93[ASN][1000 genomes]
rs541857	0.94[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120087200	Weak transcription	Lung	lung
2	chr11:120082800-120091800	Enhancers	Placenta	Placenta
3	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:120083400-120088400	Weak transcription	Brain Angular Gyrus	brain
5	chr11:120083600-120089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:120083600-120089600	Weak transcription	Fetal Heart	heart
7	chr11:120083800-120088400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:120084000-120088400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:120084000-120089000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:120084000-120092200	Weak transcription	Fetal Thymus	thymus
12	chr11:120084200-120087800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
13	chr11:120084200-120088200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:120084200-120088400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:120084200-120093000	Genic enhancers	Fetal Muscle Leg	muscle
16	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:120084400-120088400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:120084400-120088400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:120084400-120088400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:120084400-120088400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:120084400-120088400	Weak transcription	Right Atrium	heart
22	chr11:120084400-120093000	Genic enhancers	Fetal Intestine Large	intestine
23	chr11:120084600-120087000	Genic enhancers	HepG2	liver
24	chr11:120084600-120089000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:120084600-120091400	Genic enhancers	Fetal Stomach	stomach
26	chr11:120084600-120091600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:120084600-120093200	Genic enhancers	Fetal Intestine Small	intestine
28	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
29	chr11:120084800-120088400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:120084800-120088400	Weak transcription	Small Intestine	intestine
31	chr11:120084800-120092000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr11:120085000-120087200	Genic enhancers	Pancreas	Pancrea
33	chr11:120085000-120087800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:120085000-120088600	Genic enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:120085000-120092800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:120085000-120093200	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr11:120085200-120087600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:120085200-120092400	Enhancers	Ovary	ovary
39	chr11:120085600-120087400	Enhancers	Gastric	stomach
40	chr11:120085600-120088000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:120085600-120088400	Weak transcription	Brain Anterior Caudate	brain
42	chr11:120085600-120088400	Enhancers	Stomach Smooth Muscle	stomach
43	chr11:120085800-120087200	Genic enhancers	Duodenum Mucosa	Duodenum
44	chr11:120085800-120091000	Enhancers	Liver	Liver
45	chr11:120086000-120087200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:120086000-120087200	Enhancers	NHLF	lung
47	chr11:120086000-120087400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:120086000-120092800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr11:120086200-120087000	Enhancers	HUVEC	blood vessel
50	chr11:120086200-120087000	Enhancers	NHDF-Ad	bronchial

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