Variant report

Variant	rs28465569
Chromosome Location	chr8:95376528-95376529
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	chr8:95369732..95371787-chr8:95374692..95376567,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10089098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10094296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097080	1.00[AMR][1000 genomes]
rs10098298	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10099076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10104756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10107320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10110995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10111789	0.81[AMR][1000 genomes]
rs10111845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10111959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12334675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13439301	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28397775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28425652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28435991	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28605692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28608052	1.00[AFR][1000 genomes]
rs28651529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28897138	0.81[AMR][1000 genomes]
rs3136421	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7823715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 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	chr8:95363000-95385200	Weak transcription	Primary T cells from cord blood	blood
2	chr8:95365800-95378800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:95365800-95385000	Weak transcription	NHEK	skin
4	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:95369400-95383600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:95370000-95379000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:95370000-95380600	Weak transcription	A549	lung
8	chr8:95370000-95382200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:95370000-95385000	Weak transcription	NHLF	lung
10	chr8:95370000-95385200	Weak transcription	HSMM	muscle
11	chr8:95370000-95385200	Weak transcription	HUVEC	blood vessel
12	chr8:95370200-95378800	Weak transcription	NH-A	brain
13	chr8:95370200-95379000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:95370200-95384800	Weak transcription	HMEC	breast
15	chr8:95370400-95378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95370600-95381800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:95370600-95385400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:95370800-95383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:95372400-95384400	Weak transcription	NHDF-Ad	bronchial
21	chr8:95372400-95385000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:95372800-95384400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:95372800-95384800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:95372800-95385200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:95372800-95391200	Weak transcription	HepG2	liver
26	chr8:95373800-95378800	Weak transcription	Fetal Brain Male	brain
27	chr8:95373800-95381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:95373800-95385600	Weak transcription	Fetal Kidney	kidney
29	chr8:95373800-95391600	Weak transcription	Fetal Lung	lung
30	chr8:95374000-95390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:95374000-95391000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:95374400-95379000	Weak transcription	Brain Germinal Matrix	brain
33	chr8:95374400-95390400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:95374600-95385000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:95374600-95392200	Weak transcription	Fetal Intestine Large	intestine
36	chr8:95374800-95391400	Weak transcription	Fetal Intestine Small	intestine
37	chr8:95375000-95389400	Weak transcription	Fetal Thymus	thymus
38	chr8:95375600-95377000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:95376000-95376600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:95376400-95387400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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