Variant report

Variant	rs13276168
Chromosome Location	chr8:131419733-131419734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131419011..131421819-chr8:131431981..131433568,2	K562	blood:

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

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

rs_ID	r²[population]
rs10086454	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[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];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090231	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10090767	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10099549	0.97[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10099586	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103132	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111650	0.86[ASN][1000 genomes]
rs10956520	0.88[ASN][1000 genomes]
rs10956522	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10956523	1.00[ASN][1000 genomes]
rs11784638	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11984909	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11992217	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11992885	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992932	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992957	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993714	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993741	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997462	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678030	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678062	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12678808	0.88[ASN][1000 genomes]
rs12680178	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12680697	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12681664	0.94[ASN][1000 genomes]
rs13249894	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13255178	0.92[ASN][1000 genomes]
rs13260346	0.84[ASN][1000 genomes]
rs13275147	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1340020	0.82[EUR][1000 genomes]
rs16904260	0.84[ASN][1000 genomes]
rs16904267	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904268	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17215817	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17287702	0.84[ASN][1000 genomes]
rs2791349	0.87[EUR][1000 genomes]
rs28545757	0.82[ASN][1000 genomes]
rs28559741	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28562521	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28707621	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716119	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34003529	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34019017	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34188408	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34542318	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34676374	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34737610	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987314	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35123370	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35229803	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35592532	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4504679	0.94[ASN][1000 genomes]
rs4574884	0.88[EUR][1000 genomes]
rs4609234	0.92[ASN][1000 genomes]
rs5027392	0.98[ASN][1000 genomes]
rs56677646	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470819	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6986119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990443	0.84[ASN][1000 genomes]
rs7011509	0.90[EUR][1000 genomes]
rs7014098	0.84[ASN][1000 genomes]
rs7016144	0.90[EUR][1000 genomes]
rs7812299	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812469	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822259	0.94[ASN][1000 genomes]
rs7822957	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823146	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828824	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838650	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297807	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[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:56 , 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	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
9	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
14	chr8:131410000-131423200	Weak transcription	Ovary	ovary
15	chr8:131411200-131420400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
20	chr8:131415200-131420400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:131416600-131420600	Enhancers	NHLF	lung
22	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
23	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:131417400-131422800	Weak transcription	NH-A	brain
25	chr8:131417600-131420400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
27	chr8:131417800-131420400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:131418000-131419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:131418000-131419800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:131418000-131420400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:131418000-131420800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:131418000-131421600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:131418000-131423600	Weak transcription	HepG2	liver
37	chr8:131418600-131428200	Weak transcription	HMEC	breast
38	chr8:131418800-131419800	Enhancers	Right Atrium	heart
39	chr8:131419000-131420000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:131419000-131420800	Enhancers	Osteobl	bone
41	chr8:131419200-131420000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:131419200-131420200	Enhancers	NHDF-Ad	bronchial
43	chr8:131419200-131420400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:131419400-131419800	Enhancers	Left Ventricle	heart
45	chr8:131419400-131419800	Enhancers	Spleen	Spleen
46	chr8:131419400-131420000	Enhancers	Lung	lung
47	chr8:131419400-131420600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:131419400-131420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:131419400-131420800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:131419400-131421600	Weak transcription	A549	lung

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