Variant report

Variant	rs7818831
Chromosome Location	chr8:118998771-118998772
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118990513..118994843-chr8:118997898..119000699,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10087446	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10097196	0.92[CEU][hapmap];0.96[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10102745	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10105797	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10955846	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11781245	0.85[JPT][hapmap]
rs13256042	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13260665	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1462985	0.81[JPT][hapmap]
rs1466429	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1542519	0.83[CEU][hapmap]
rs1564132	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430540	0.81[JPT][hapmap]
rs17450835	0.81[JPT][hapmap]
rs2008799	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168667	0.81[JPT][hapmap]
rs2199545	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2219724	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2325820	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2325821	0.87[EUR][1000 genomes]
rs2447535	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs2447536	0.88[JPT][hapmap]
rs2447538	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2447539	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2447540	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs2447541	0.83[CEU][hapmap]
rs2514719	0.81[CEU][hapmap];0.85[JPT][hapmap]
rs2514720	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2514727	0.91[ASN][1000 genomes]
rs4602926	0.81[JPT][hapmap]
rs4876774	0.88[CEU][hapmap]
rs4876775	0.88[CEU][hapmap]
rs4876777	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4876781	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4876782	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876783	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876784	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7812722	0.87[CEU][hapmap]
rs7815972	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9643120	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118983600-119000800	Weak transcription	Pancreas	Pancrea
2	chr8:118989400-119000000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:118990000-119000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:118992800-118999000	Weak transcription	HMEC	breast
6	chr8:118992800-119001400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:118992800-119001800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:118993200-118999600	Weak transcription	Esophagus	oesophagus
10	chr8:118993200-119000600	Weak transcription	Right Ventricle	heart
11	chr8:118993200-119000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:118993200-119000800	Weak transcription	Spleen	Spleen
13	chr8:118993200-119001400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
15	chr8:118993600-119000600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:118993600-119001400	Weak transcription	HSMMtube	muscle
17	chr8:118993800-118999000	Weak transcription	Fetal Kidney	kidney
18	chr8:118993800-119000600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr8:118993800-119001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:118994000-118999400	Weak transcription	Placenta	Placenta
21	chr8:118994000-119001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:118994000-119001400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:118994000-119001400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
25	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
26	chr8:118994200-119000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:118994200-119000800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:118994200-119004200	Weak transcription	Fetal Stomach	stomach
29	chr8:118994400-118999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:118994600-118998800	Weak transcription	NHEK	skin
31	chr8:118994600-118999000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:118994600-119001400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:118994600-119001800	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:118994600-119002000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:118994800-118999600	Weak transcription	Left Ventricle	heart
36	chr8:118995600-119000800	Enhancers	Liver	Liver
37	chr8:118996400-119000200	Weak transcription	Ovary	ovary
38	chr8:118996600-119001200	Enhancers	HepG2	liver
39	chr8:118997000-119000200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:118997000-119000600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:118997200-119000800	Weak transcription	Lung	lung
42	chr8:118997800-118999000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:118997800-118999000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:118997800-118999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:118997800-118999200	Weak transcription	GM12878-XiMat	blood
46	chr8:118997800-118999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:118997800-119000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:118997800-119000600	Weak transcription	Right Atrium	heart
49	chr8:118997800-119000600	Weak transcription	Small Intestine	intestine
50	chr8:118997800-119000800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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