Variant report

Variant	rs10100523
Chromosome Location	chr8:126372097-126372098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126371278..126373915-chr8:126440851..126442526,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10088674	0.81[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094940	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099782	1.00[MEX][hapmap];0.85[MKK][hapmap]
rs10101223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106950	1.00[TSI][hapmap]
rs10107980	1.00[MEX][hapmap]
rs10111261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10481154	0.86[ASW][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16900487	1.00[TSI][hapmap]
rs28502126	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062304	1.00[EUR][1000 genomes]
rs58585963	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004396	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73704922	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704933	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704952	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	1.00[EUR][1000 genomes]
rs9297715	1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap]

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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2761467	chr8:126368375-126385095	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
2	chr8:126354000-126381200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:126354800-126379800	Weak transcription	Pancreas	Pancrea
4	chr8:126354800-126380400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr8:126354800-126381600	Weak transcription	Brain Anterior Caudate	brain
6	chr8:126354800-126383200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:126355000-126374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:126355200-126373000	Weak transcription	NH-A	brain
9	chr8:126355200-126374800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:126355200-126374800	Weak transcription	HMEC	breast
11	chr8:126355200-126378800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:126355600-126374200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:126355600-126374400	Weak transcription	NHLF	lung
14	chr8:126355600-126374600	Weak transcription	NHDF-Ad	bronchial
15	chr8:126355600-126375200	Weak transcription	Small Intestine	intestine
16	chr8:126358800-126376800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:126359400-126372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:126361800-126383200	Weak transcription	Psoas Muscle	Psoas
19	chr8:126362600-126372800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:126362600-126373200	Weak transcription	Osteobl	bone
21	chr8:126362600-126373600	Weak transcription	HSMM	muscle
22	chr8:126362800-126372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:126363400-126374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:126365000-126379000	Weak transcription	Fetal Brain Male	brain
25	chr8:126365400-126374200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:126365600-126372800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:126365600-126380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr8:126365600-126381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:126365800-126380000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:126367000-126381200	Weak transcription	Fetal Brain Female	brain
31	chr8:126367200-126374400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:126367400-126373800	Weak transcription	A549	lung
33	chr8:126367600-126374800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:126367800-126381800	Weak transcription	HepG2	liver
35	chr8:126368000-126373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:126368000-126374400	Weak transcription	Esophagus	oesophagus
37	chr8:126368000-126374400	Weak transcription	NHEK	skin
38	chr8:126368200-126374600	Weak transcription	GM12878-XiMat	blood
39	chr8:126368200-126383200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:126369000-126373600	Weak transcription	Fetal Heart	heart
41	chr8:126369000-126375200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:126369200-126373400	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:126369400-126372600	Strong transcription	Adipose Nuclei	Adipose
44	chr8:126369400-126372600	Strong transcription	Fetal Lung	lung
45	chr8:126369400-126373200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr8:126369400-126375400	Strong transcription	Primary T cells from cord blood	blood
47	chr8:126369400-126375400	Strong transcription	Fetal Stomach	stomach
48	chr8:126369600-126373200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:126369600-126374400	Strong transcription	Fetal Thymus	thymus
50	chr8:126369600-126374600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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