Variant report

Variant	rs28481333
Chromosome Location	chr8:126269273-126269274
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	chr8:126268163..126270276-chr8:126271842..126273931,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10087220	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10088674	1.00[EUR][1000 genomes]
rs10093674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10097356	1.00[EUR][1000 genomes]
rs10099782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104564	1.00[EUR][1000 genomes]
rs10105848	1.00[EUR][1000 genomes]
rs10108634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109000	1.00[EUR][1000 genomes]
rs10111309	1.00[EUR][1000 genomes]
rs10481079	1.00[EUR][1000 genomes]
rs10481153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481154	1.00[EUR][1000 genomes]
rs11985468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995477	1.00[AMR][1000 genomes]
rs11998130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998251	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16900466	1.00[EUR][1000 genomes]
rs28374689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28421051	1.00[EUR][1000 genomes]
rs28516407	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609644	1.00[EUR][1000 genomes]
rs28702877	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58585963	1.00[EUR][1000 genomes]
rs7015483	1.00[EUR][1000 genomes]
rs73704566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704922	1.00[EUR][1000 genomes]
rs7826327	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:126245600-126269600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:126251400-126272000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:126254000-126270400	Weak transcription	Hela-S3	cervix
5	chr8:126255200-126271600	Weak transcription	Right Atrium	heart
6	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
7	chr8:126256200-126271600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:126256400-126271800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:126257400-126273600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:126260600-126269400	Weak transcription	Fetal Lung	lung
11	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:126261600-126272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:126262200-126288200	Weak transcription	Ovary	ovary
14	chr8:126263400-126279000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:126264400-126272000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
17	chr8:126265600-126270600	Weak transcription	Brain Substantia Nigra	brain
18	chr8:126265600-126274800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:126265800-126272000	Weak transcription	Adipose Nuclei	Adipose
21	chr8:126266000-126273400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:126266200-126270800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:126266200-126274000	Weak transcription	Fetal Thymus	thymus
24	chr8:126267400-126271600	Weak transcription	Gastric	stomach
25	chr8:126267400-126276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:126267600-126271400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:126267800-126270400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:126267800-126271400	Weak transcription	Psoas Muscle	Psoas
29	chr8:126267800-126273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:126267800-126274600	Weak transcription	Primary T cells from cord blood	blood
31	chr8:126267800-126276200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:126268000-126270200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:126268000-126270800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:126268000-126270800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:126268000-126273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:126268200-126271000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:126268200-126271600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:126268200-126273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:126268200-126273800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:126268600-126280800	Weak transcription	Primary monocytes fromperipheralblood	blood

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