Variant report

Variant	rs10957266
Chromosome Location	chr8:63923764-63923765
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	chr8:63896894..63899189-chr8:63921841..63923926,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1031552	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10464903	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464904	1.00[CEU][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10464905	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10957265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10957268	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957269	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957270	1.00[CEU][hapmap];0.80[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12056582	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12541047	0.88[AMR][1000 genomes]
rs12541370	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12541993	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12543020	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543961	0.86[AMR][1000 genomes]
rs12545230	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12545245	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12546361	1.00[CEU][hapmap];0.92[GIH][hapmap];0.80[JPT][hapmap];0.94[MEX][hapmap]
rs12547772	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12547848	0.83[AMR][1000 genomes]
rs12548172	1.00[CEU][hapmap]
rs12548729	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548933	0.82[CHD][hapmap]
rs12549172	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12675369	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676348	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12677953	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12677972	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12678042	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12678214	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12680223	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12681795	0.81[EUR][1000 genomes]
rs12682112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12682385	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16929963	0.88[AMR][1000 genomes]
rs16929988	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1963949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2305558	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3758147	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780128	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3824333	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4310197	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4317561	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4404907	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4521747	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4534128	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4737616	1.00[CEU][hapmap]
rs4737621	0.86[AMR][1000 genomes]
rs4737625	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4737626	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4737627	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4739028	0.85[AMR][1000 genomes]
rs4739031	0.87[AMR][1000 genomes]
rs4739032	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739037	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4739046	1.00[CEU][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739047	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72658339	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72658340	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72658349	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658350	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658353	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658359	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658362	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658367	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658371	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72658375	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73684520	0.83[EUR][1000 genomes]
rs7818582	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs930840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643545	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018879	chr8:63281724-63937632	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033527	chr8:63673915-64073735	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
3	nsv6227	chr8:63892087-63936952	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63906800-63926200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:63919600-63924800	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:63919800-63924800	Enhancers	Fetal Intestine Small	intestine
4	chr8:63920800-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:63921200-63923800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:63922000-63932000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:63922200-63935600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:63922400-63941800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:63922600-63936600	Weak transcription	HSMM	muscle
10	chr8:63922600-63949200	Weak transcription	Fetal Brain Female	brain
11	chr8:63922800-63923800	Enhancers	Fetal Kidney	kidney
12	chr8:63922800-63924000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:63922800-63924600	Weak transcription	Placenta	Placenta
14	chr8:63922800-63925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:63922800-63928600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:63922800-63931000	Weak transcription	Thymus	Thymus
17	chr8:63922800-63937600	Weak transcription	Fetal Thymus	thymus
18	chr8:63922800-63938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:63922800-63938000	Weak transcription	Esophagus	oesophagus
20	chr8:63922800-63939200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:63922800-63941000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:63922800-63950000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:63922800-63950000	Weak transcription	HMEC	breast
24	chr8:63922800-63950800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:63923000-63924000	Enhancers	HepG2	liver
26	chr8:63923000-63924200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:63923000-63924200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:63923000-63924800	Enhancers	Fetal Intestine Large	intestine
29	chr8:63923000-63926600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:63923200-63930400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:63923400-63923800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr8:63923400-63924200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr8:63923400-63925800	Weak transcription	Brain Germinal Matrix	brain
34	chr8:63923400-63940800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:63923600-63923800	Flanking Active TSS	Liver	Liver
36	chr8:63923600-63924200	Enhancers	Duodenum Mucosa	Duodenum
37	chr8:63923600-63924200	Enhancers	GM12878-XiMat	blood
38	chr8:63923600-63924400	Enhancers	Primary B cells from cord blood	blood
39	chr8:63923600-63941800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:63923600-63944600	Weak transcription	Primary monocytes fromperipheralblood	blood

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