Variant report

Variant	rs11562721
Chromosome Location	chr8:119081993-119081994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119081594..119083586-chr8:119085175..119088517,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17431728	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431748	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17431757	0.87[ASN][1000 genomes]
rs17454120	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1870100	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6992023	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73327853	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838643	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7843725	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv526044	chr8:119079196-119082204	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
3	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:119073400-119083400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:119074000-119086200	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:119074800-119086400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
11	chr8:119075600-119086000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:119075800-119083600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:119075800-119085800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:119075800-119086200	Weak transcription	Right Atrium	heart
15	chr8:119075800-119086400	Weak transcription	Brain Anterior Caudate	brain
16	chr8:119076000-119086200	Weak transcription	Right Ventricle	heart
17	chr8:119076400-119086200	Weak transcription	Left Ventricle	heart
18	chr8:119076400-119086200	Weak transcription	Lung	lung
19	chr8:119077400-119082000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:119078000-119099000	Weak transcription	Dnd41	blood
21	chr8:119078200-119083600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:119078200-119085200	Weak transcription	Fetal Brain Male	brain
23	chr8:119078400-119085800	Weak transcription	Fetal Heart	heart
24	chr8:119078400-119086600	Weak transcription	Pancreas	Pancrea
25	chr8:119078400-119088400	Weak transcription	Hela-S3	cervix
26	chr8:119078400-119091600	Weak transcription	Gastric	stomach
27	chr8:119079200-119086200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:119079200-119086400	Weak transcription	Brain Substantia Nigra	brain
29	chr8:119079400-119082200	Strong transcription	NHEK	skin
30	chr8:119079600-119082200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:119079600-119082200	Enhancers	Stomach Mucosa	stomach
32	chr8:119079800-119082000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:119079800-119082200	Enhancers	A549	lung
34	chr8:119080000-119082400	Strong transcription	HSMM	muscle
35	chr8:119080000-119084800	Genic enhancers	Osteobl	bone
36	chr8:119080200-119082000	Enhancers	NH-A	brain
37	chr8:119080200-119082400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:119080200-119083400	Weak transcription	HSMMtube	muscle
39	chr8:119080200-119086000	Weak transcription	HMEC	breast
40	chr8:119080200-119086200	Weak transcription	Fetal Brain Female	brain
41	chr8:119080400-119082200	Enhancers	NHLF	lung
42	chr8:119080400-119083400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:119080400-119083600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:119080600-119083000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:119080600-119086200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:119080800-119082200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:119080800-119085600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:119081000-119082400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:119081000-119082600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:119081200-119082000	Enhancers	H1 Cell Line	embryonic stem cell

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