Variant report

Variant	rs13260665
Chromosome Location	chr8:119004292-119004293
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	chr8:119004216..119005864-chr8:119006227..119009143,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10087446	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097196	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10102745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10105797	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10955846	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1125103	0.84[CEU][hapmap]
rs11780699	0.84[CEU][hapmap]
rs11781153	0.83[CEU][hapmap]
rs11781245	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs13256042	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1462985	0.81[JPT][hapmap]
rs1466429	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1542519	0.83[CEU][hapmap]
rs1564132	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17430540	0.81[JPT][hapmap]
rs17450835	0.81[JPT][hapmap]
rs2008799	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2168667	0.81[JPT][hapmap]
rs2199545	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2219724	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2325820	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2325821	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2447535	0.88[CEU][hapmap]
rs2447536	0.87[CEU][hapmap];0.88[JPT][hapmap]
rs2447537	0.84[CEU][hapmap]
rs2447538	0.81[JPT][hapmap]
rs2447539	0.81[JPT][hapmap]
rs2447540	0.83[CEU][hapmap];0.85[JPT][hapmap]
rs2447541	0.83[CEU][hapmap]
rs2514719	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs2514720	0.84[CEU][hapmap];0.85[JPT][hapmap]
rs2514727	0.91[ASN][1000 genomes]
rs3101574	0.84[CEU][hapmap]
rs4298514	0.87[CEU][hapmap]
rs4541958	0.87[CEU][hapmap]
rs4602926	0.81[JPT][hapmap]
rs4876774	0.80[CEU][hapmap]
rs4876775	0.80[CEU][hapmap]
rs4876777	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4876781	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876782	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876783	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876784	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6469718	0.84[CEU][hapmap]
rs7815972	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7818831	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]
rs958381	0.87[CEU][hapmap]
rs9643120	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	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	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
5	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
6	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
7	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
4	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
5	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:118997800-119004800	Weak transcription	Fetal Thymus	thymus
7	chr8:118998400-119006800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:118998600-119006600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:118999000-119004600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:118999600-119007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:119000000-119006400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:119000800-119005200	Enhancers	Pancreas	Pancrea
13	chr8:119000800-119006000	Enhancers	NHLF	lung
14	chr8:119001000-119005400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:119001200-119004800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:119001200-119004800	Weak transcription	Ovary	ovary
17	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:119001400-119005200	Enhancers	HMEC	breast
19	chr8:119001400-119006400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:119002000-119004600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:119002000-119004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:119002000-119004800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:119002000-119010000	Weak transcription	HSMM	muscle
25	chr8:119002000-119011800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:119002200-119004400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:119002200-119004400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:119002200-119004400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:119002200-119004800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:119002200-119004800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:119002200-119004800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:119002200-119005400	Enhancers	HepG2	liver
33	chr8:119002200-119006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:119002200-119007000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:119002200-119007400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:119002200-119007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:119002200-119010000	Weak transcription	NH-A	brain
38	chr8:119002400-119007200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:119002600-119004800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:119002800-119004400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:119002800-119011800	Weak transcription	Colonic Mucosa	Colon
42	chr8:119003000-119004800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:119003000-119004800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:119003000-119004800	Weak transcription	Spleen	Spleen
45	chr8:119003000-119006600	Enhancers	NHEK	skin
46	chr8:119003200-119004400	Weak transcription	Adipose Nuclei	Adipose
47	chr8:119003200-119004800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:119003200-119007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:119003400-119004600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:119003600-119005000	Enhancers	Stomach Smooth Muscle	stomach

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