Variant report

Variant	rs879997
Chromosome Location	chr8:96239186-96239187
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96204194..96207440-chr8:96236906..96239736,3	MCF-7	breast:
2	chr8:96145188..96147902-chr8:96236051..96240393,4	K562	blood:
3	chr8:96222260..96224188-chr8:96237998..96239656,2	MCF-7	breast:
4	chr8:96039470..96042211-chr8:96236701..96239677,2	K562	blood:
5	chr8:96192843..96194703-chr8:96238022..96240558,2	K562	blood:
6	chr8:96163530..96165842-chr8:96237237..96239389,2	MCF-7	breast:
7	chr8:96239016..96241801-chr8:96243185..96245921,2	MCF-7	breast:
8	chr8:96145749..96147825-chr8:96236619..96239498,2	MCF-7	breast:
9	chr8:96234462..96239842-chr8:96279058..96283088,6	K562	blood:
10	chr8:96228952..96231247-chr8:96237951..96240683,3	MCF-7	breast:
11	chr8:96143360..96148175-chr8:96235522..96240876,10	MCF-7	breast:
12	chr8:96233041..96235359-chr8:96238288..96241007,3	K562	blood:
13	chr8:96232323..96234888-chr8:96235835..96240054,4	MCF-7	breast:
14	chr8:96236807..96240008-chr8:96246119..96247780,3	MCF-7	breast:
15	chr8:96238086..96240049-chr8:96241356..96243074,2	K562	blood:
16	chr8:96145188..96147654-chr8:96237767..96240393,2	K562	blood:
17	chr8:96087772..96089911-chr8:96238508..96240959,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156172	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10956943	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13258855	0.96[ASN][1000 genomes]
rs13259182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263562	0.81[ASN][1000 genomes]
rs13263858	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13270711	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13279671	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1441394	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1441396	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1530257	0.80[ASN][1000 genomes]
rs2083616	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2439629	0.86[ASN][1000 genomes]
rs2439630	0.86[ASN][1000 genomes]
rs2514551	0.86[ASN][1000 genomes]
rs2514552	0.86[ASN][1000 genomes]
rs2514553	0.86[ASN][1000 genomes]
rs2514574	0.86[ASN][1000 genomes]
rs4492337	0.80[ASN][1000 genomes]
rs4560758	0.80[ASN][1000 genomes]
rs7815255	0.84[ASN][1000 genomes]
rs7820512	0.80[ASN][1000 genomes]
rs7835921	0.80[ASN][1000 genomes]
rs876260	0.86[ASN][1000 genomes]
rs876261	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs879998	0.98[ASN][1000 genomes]
rs894151	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9297955	0.80[ASN][1000 genomes]
rs9297956	0.80[ASN][1000 genomes]
rs9649978	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96231600-96241600	Enhancers	Fetal Thymus	thymus
3	chr8:96234000-96240000	Weak transcription	Primary T cells from cord blood	blood
4	chr8:96235000-96239600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:96235000-96239600	Enhancers	Placenta	Placenta
6	chr8:96235000-96242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:96235200-96239600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:96235200-96249200	Enhancers	Primary B cells from cord blood	blood
9	chr8:96235400-96239400	Enhancers	Esophagus	oesophagus
10	chr8:96235400-96239400	Enhancers	Fetal Muscle Leg	muscle
11	chr8:96235400-96240000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:96235600-96239200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:96235600-96239600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:96235800-96239400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:96235800-96240000	Enhancers	Brain Hippocampus Middle	brain
16	chr8:96236600-96239800	Enhancers	Fetal Intestine Large	intestine
17	chr8:96237200-96239800	Enhancers	Fetal Intestine Small	intestine
18	chr8:96237400-96239200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:96237400-96239600	Flanking Active TSS	K562	blood
20	chr8:96237600-96239600	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:96237600-96239800	Enhancers	Fetal Stomach	stomach
22	chr8:96238000-96240800	Enhancers	GM12878-XiMat	blood
23	chr8:96238200-96239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:96238200-96239600	Weak transcription	Brain Germinal Matrix	brain
25	chr8:96238200-96239600	Enhancers	Brain Substantia Nigra	brain
26	chr8:96238400-96239400	Enhancers	Fetal Brain Male	brain
27	chr8:96238400-96239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:96238600-96239800	Weak transcription	Fetal Kidney	kidney
29	chr8:96238600-96241000	Enhancers	HepG2	liver
30	chr8:96238600-96242000	Weak transcription	HSMMtube	muscle
31	chr8:96238600-96244800	Weak transcription	Left Ventricle	heart
32	chr8:96238600-96246600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:96238800-96239200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:96238800-96239400	Enhancers	Spleen	Spleen
35	chr8:96238800-96239800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:96238800-96241000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:96238800-96241000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:96238800-96241000	Weak transcription	HMEC	breast
39	chr8:96238800-96243800	Weak transcription	Fetal Heart	heart
40	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:96239000-96239600	Weak transcription	Thymus	Thymus
42	chr8:96239000-96240400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:96239000-96240400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:96239000-96240800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:96239000-96241000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:96239000-96241000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:96239000-96241000	Weak transcription	NHEK	skin
48	chr8:96239000-96241200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:96239000-96243000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:96239000-96244000	Weak transcription	Right Atrium	heart

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