Variant report

Variant	rs2512378
Chromosome Location	chr11:86751139-86751140
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86736816..86738762-chr11:86750724..86753457,2	K562	blood:
2	chr11:86741218..86743533-chr11:86749277..86751879,2	MCF-7	breast:
3	chr11:86749278..86752197-chr11:86764776..86767404,2	K562	blood:
4	chr11:86658501..86661245-chr11:86750837..86752641,2	K562	blood:
5	chr11:86665343..86667808-chr11:86749695..86751582,2	K562	blood:

Variant related genes	Relation type
ENSG00000246523	Chromatin interaction
ENSG00000174804	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10792903	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11234912	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1378878	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1378880	0.83[CEU][hapmap];0.92[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs2445536	0.81[AMR][1000 genomes]
rs2445574	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445587	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445588	0.84[EUR][1000 genomes]
rs2512361	0.81[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs2512374	0.83[AMR][1000 genomes]
rs2512375	0.80[AMR][1000 genomes]
rs2512376	0.83[AMR][1000 genomes]
rs2512377	0.82[AMR][1000 genomes]
rs2512478	0.84[JPT][hapmap]
rs2512502	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs2512503	0.87[AMR][1000 genomes]
rs2513205	0.84[ASN][1000 genomes]
rs2513232	0.96[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3133315	0.81[AMR][1000 genomes]
rs3740659	0.88[CEU][hapmap];0.84[JPT][hapmap]

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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86748200-86751400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:86748400-86751200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:86748400-86751200	Active TSS	Aorta	Aorta
4	chr11:86748400-86751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:86748400-86752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:86749200-86751400	Active TSS	Right Atrium	heart
7	chr11:86749400-86752200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr11:86749600-86751200	Active TSS	HepG2	liver
9	chr11:86749600-86751400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:86749600-86754200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:86749600-86758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:86749600-86766800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:86749800-86751200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:86749800-86751400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:86749800-86751400	Flanking Active TSS	Dnd41	blood
16	chr11:86749800-86753800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:86750000-86751200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:86750000-86751200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:86750000-86751400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:86750000-86751400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:86750000-86751600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:86750000-86752600	Enhancers	Brain Angular Gyrus	brain
23	chr11:86750000-86756400	Weak transcription	Primary B cells from cord blood	blood
24	chr11:86750000-86765800	Weak transcription	Placenta	Placenta
25	chr11:86750200-86751600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:86750200-86752200	Enhancers	Fetal Brain Male	brain
27	chr11:86750400-86751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:86750400-86751200	Enhancers	Brain Hippocampus Middle	brain
29	chr11:86750400-86751200	Enhancers	Fetal Heart	heart
30	chr11:86750400-86751600	Enhancers	Fetal Lung	lung
31	chr11:86750400-86752000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:86750400-86752000	Enhancers	Left Ventricle	heart
33	chr11:86750400-86752200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:86750400-86752200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:86750400-86753000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:86750400-86753200	Enhancers	Brain Substantia Nigra	brain
37	chr11:86750400-86754000	Weak transcription	Fetal Stomach	stomach
38	chr11:86750400-86760600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr11:86750600-86751200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:86750600-86751200	Weak transcription	Fetal Kidney	kidney
41	chr11:86750600-86751400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:86750600-86751600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:86750600-86752600	Enhancers	Liver	Liver
44	chr11:86750600-86752800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:86750600-86753200	Weak transcription	Small Intestine	intestine
46	chr11:86750600-86754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:86750600-86755400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:86750600-86755600	Weak transcription	Fetal Intestine Small	intestine
49	chr11:86750600-86755600	Weak transcription	Right Ventricle	heart
50	chr11:86750600-86756400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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