Variant report

Variant	rs11987468
Chromosome Location	chr8:96234909-96234910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96204685..96206421-chr8:96234538..96236078,2	MCF-7	breast:
2	chr8:96147448..96150087-chr8:96233164..96235373,2	MCF-7	breast:
3	chr8:96077808..96080245-chr8:96234205..96235808,2	MCF-7	breast:
4	chr8:96222002..96228732-chr8:96228964..96237755,16	MCF-7	breast:
5	chr8:96234462..96239842-chr8:96279058..96283088,6	K562	blood:
6	chr8:96229120..96231629-chr8:96232251..96235212,3	MCF-7	breast:
7	chr8:96230420..96235229-chr8:96280327..96282960,4	MCF-7	breast:
8	chr8:96111749..96114066-chr8:96234612..96236782,2	K562	blood:
9	chr8:96233041..96235359-chr8:96238288..96241007,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253773	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000253351	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11781098	1.00[CHB][hapmap]
rs11784608	1.00[CHB][hapmap]
rs9297953	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv523655	chr8:96205920-96239113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv16466	chr8:96206151-96243934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv516035	chr8:96208726-96235451	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv465740	chr8:96211820-96235451	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv611758	chr8:96211820-96235451	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv6315	chr8:96216465-96261671	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv465741	chr8:96221122-96247835	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv611759	chr8:96221122-96247835	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv988068	chr8:96228317-96235618	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96223600-96237200	Weak transcription	Fetal Intestine Small	intestine
3	chr8:96225600-96236200	Weak transcription	Gastric	stomach
4	chr8:96228000-96238800	Weak transcription	Thymus	Thymus
5	chr8:96228800-96237600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:96229000-96235400	Weak transcription	Aorta	Aorta
7	chr8:96230600-96235600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:96230600-96235600	Weak transcription	Stomach Mucosa	stomach
9	chr8:96230800-96235200	Weak transcription	Fetal Heart	heart
10	chr8:96231600-96237600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:96231600-96241600	Enhancers	Fetal Thymus	thymus
12	chr8:96231800-96235200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:96231800-96235200	Weak transcription	HepG2	liver
14	chr8:96231800-96235400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:96231800-96235600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:96231800-96235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:96231800-96237600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:96232200-96235400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:96232600-96235400	Weak transcription	Psoas Muscle	Psoas
20	chr8:96232600-96236000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:96232800-96235400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:96232800-96235600	Enhancers	K562	blood
23	chr8:96233000-96237000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:96233000-96237800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:96233200-96235400	Weak transcription	Right Atrium	heart
26	chr8:96233200-96235600	Weak transcription	Right Ventricle	heart
27	chr8:96233200-96236000	Enhancers	NHEK	skin
28	chr8:96233200-96236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:96233200-96238800	Weak transcription	Spleen	Spleen
30	chr8:96233600-96235000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:96233800-96235200	Weak transcription	Left Ventricle	heart
32	chr8:96233800-96235400	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:96233800-96237800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:96234000-96235600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr8:96234000-96240000	Weak transcription	Primary T cells from cord blood	blood
36	chr8:96234200-96235200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:96234200-96235200	Weak transcription	Primary B cells from cord blood	blood
38	chr8:96234200-96235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:96234200-96235400	Weak transcription	Esophagus	oesophagus
40	chr8:96234200-96237400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:96234200-96237600	Weak transcription	Fetal Lung	lung
42	chr8:96234200-96238000	Weak transcription	GM12878-XiMat	blood
43	chr8:96234200-96239000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:96234600-96235000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:96234600-96235000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:96234600-96235000	Weak transcription	Placenta	Placenta
47	chr8:96234600-96235000	Weak transcription	HMEC	breast
48	chr8:96234800-96236600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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