Variant report

Variant	rs16892525
Chromosome Location	chr8:120429744-120429745
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	chr8:120276101..120276967-chr8:120428773..120429772,7	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10505358	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11985985	1.00[MEX][hapmap]
rs1461694	0.92[EUR][1000 genomes]
rs16892512	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892524	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892527	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16892528	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16892553	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16892556	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16892597	0.92[EUR][1000 genomes]
rs16892741	1.00[MEX][hapmap]
rs16892742	1.00[MEX][hapmap]
rs16892849	1.00[MEX][hapmap]
rs16892862	1.00[MEX][hapmap]
rs2326245	0.92[EUR][1000 genomes]
rs72684301	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7341607	1.00[MEX][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1026655	chr8:120282929-120522329	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120428000-120429800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:120428000-120429800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:120428000-120430200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:120428000-120431200	Active TSS	Aorta	Aorta
5	chr8:120428200-120429800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:120428200-120429800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:120428200-120429800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:120428200-120429800	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr8:120428200-120431000	Active TSS	NHDF-Ad	bronchial
10	chr8:120428400-120429800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:120428600-120429800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:120429000-120429800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr8:120429200-120429800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr8:120429200-120429800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr8:120429200-120429800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:120429200-120429800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr8:120429200-120429800	Enhancers	Fetal Heart	heart
18	chr8:120429200-120429800	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr8:120429200-120430400	Flanking Active TSS	Hela-S3	cervix
20	chr8:120429400-120429800	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:120429400-120429800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:120429400-120429800	Active TSS	Fetal Brain Female	brain
23	chr8:120429400-120430800	Weak transcription	Psoas Muscle	Psoas
24	chr8:120429400-120431600	Weak transcription	Lung	lung
25	chr8:120429400-120435200	Weak transcription	Pancreas	Pancrea
26	chr8:120429600-120429800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:120429600-120429800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
28	chr8:120429600-120429800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr8:120429600-120429800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:120429600-120429800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:120429600-120429800	Enhancers	Adipose Nuclei	Adipose
32	chr8:120429600-120429800	Enhancers	Fetal Kidney	kidney
33	chr8:120429600-120429800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:120429600-120429800	Enhancers	Fetal Stomach	stomach
35	chr8:120429600-120429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:120429600-120430000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr8:120429600-120430000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:120429600-120430200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr8:120429600-120430200	Active TSS	Fetal Muscle Trunk	muscle
40	chr8:120429600-120432000	Weak transcription	Fetal Lung	lung
41	chr8:120429600-120432200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:120429600-120435200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:120429600-120436800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:120429600-120437200	Weak transcription	NHLF	lung

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