Variant report

Variant	rs28707621
Chromosome Location	chr8:131416260-131416261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:131416251-131416543	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131415572..131417392-chr8:131454478..131456515,2	MCF-7	breast:

Variant related genes	Relation type
ASAP1	TF binding region
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10086454	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10086773	0.98[ASN][1000 genomes]
rs10087626	0.82[ASN][1000 genomes]
rs10090106	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090231	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090767	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099549	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10099586	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103132	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107054	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111650	0.86[ASN][1000 genomes]
rs10956520	0.88[ASN][1000 genomes]
rs10956522	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956523	1.00[ASN][1000 genomes]
rs11784638	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11984909	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11992217	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11992885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678030	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678062	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12678808	0.88[ASN][1000 genomes]
rs12680178	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680697	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681664	0.94[ASN][1000 genomes]
rs13249894	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255178	0.92[ASN][1000 genomes]
rs13260346	0.84[ASN][1000 genomes]
rs13275147	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13276168	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1340020	0.80[EUR][1000 genomes]
rs16904260	0.84[ASN][1000 genomes]
rs16904267	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs16904268	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17215817	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17287702	0.84[ASN][1000 genomes]
rs2791349	0.85[EUR][1000 genomes]
rs28545757	0.82[ASN][1000 genomes]
rs28559741	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28562521	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28716119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34003529	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34019017	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34188408	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34542318	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34676374	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34737610	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987314	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35123370	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35229803	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35592532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4504679	0.94[ASN][1000 genomes]
rs4574884	0.86[EUR][1000 genomes]
rs4609234	0.92[ASN][1000 genomes]
rs5027392	0.98[ASN][1000 genomes]
rs56677646	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470819	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986119	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986163	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990443	0.84[ASN][1000 genomes]
rs7011509	0.88[EUR][1000 genomes]
rs7014098	0.84[ASN][1000 genomes]
rs7016144	0.88[EUR][1000 genomes]
rs7812299	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812469	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822259	0.94[ASN][1000 genomes]
rs7822957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828824	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838650	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297807	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
3	chr8:131398800-131417000	Weak transcription	Esophagus	oesophagus
4	chr8:131399400-131419600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131402600-131418000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:131406800-131417000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:131407400-131419600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:131407800-131416800	Weak transcription	HepG2	liver
12	chr8:131407800-131417000	Weak transcription	Lung	lung
13	chr8:131407800-131419400	Weak transcription	Spleen	Spleen
14	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:131409000-131416800	Weak transcription	Fetal Kidney	kidney
16	chr8:131409200-131416800	Weak transcription	NH-A	brain
17	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
19	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:131409400-131416600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:131409800-131417000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:131410000-131416600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
27	chr8:131410000-131423200	Weak transcription	Ovary	ovary
28	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:131411400-131416600	Weak transcription	HMEC	breast
30	chr8:131411400-131418400	Weak transcription	Fetal Lung	lung
31	chr8:131411400-131419400	Weak transcription	Left Ventricle	heart
32	chr8:131411600-131416600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr8:131411800-131416400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:131412600-131417600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:131414000-131416400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:131414000-131417000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:131414000-131417600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:131414200-131416400	Weak transcription	Fetal Stomach	stomach
39	chr8:131414200-131416400	Weak transcription	Osteobl	bone
40	chr8:131414400-131416600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:131414400-131416800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:131414400-131416800	Weak transcription	NHEK	skin
43	chr8:131414400-131417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:131414600-131416600	Weak transcription	HUVEC	blood vessel
46	chr8:131414600-131416600	Weak transcription	NHDF-Ad	bronchial
47	chr8:131414600-131416800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131414600-131419400	Weak transcription	Brain Anterior Caudate	brain
49	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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