Variant report

Variant	rs16904267
Chromosome Location	chr8:131422116-131422117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10086454	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10086773	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10087626	0.84[ASN][1000 genomes]
rs10090106	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10090231	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10090767	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10099549	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10099586	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10103132	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10107054	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10111650	0.88[ASN][1000 genomes]
rs10956520	0.86[ASN][1000 genomes]
rs10956522	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10956523	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984909	0.85[AFR][1000 genomes]
rs11992217	0.84[ASN][1000 genomes]
rs11992885	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11992932	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11992957	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11993714	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11993741	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11997462	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12678030	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12678062	0.93[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12678808	0.90[ASN][1000 genomes]
rs12680178	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12680697	0.98[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12681664	0.92[ASN][1000 genomes]
rs13249894	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13255178	0.90[ASN][1000 genomes]
rs13260346	0.86[ASN][1000 genomes]
rs13275147	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13276168	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904260	0.86[ASN][1000 genomes]
rs16904268	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17215817	0.98[ASN][1000 genomes]
rs17287702	0.86[ASN][1000 genomes]
rs28545757	0.84[ASN][1000 genomes]
rs28559741	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28562521	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28707621	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28716119	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs34003529	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34019017	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34188408	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs34542318	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34676374	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737610	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34987314	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123370	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35229803	0.95[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs35592532	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4504679	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4609234	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5027392	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56677646	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6470819	0.88[ASN][1000 genomes]
rs6986119	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986163	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990443	0.86[ASN][1000 genomes]
rs7014098	0.86[ASN][1000 genomes]
rs7812299	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7812469	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7822259	0.96[ASN][1000 genomes]
rs7822957	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7823146	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7828824	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7838650	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7844582	0.82[ASN][1000 genomes]
rs9297807	0.88[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
7	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
11	chr8:131410000-131423200	Weak transcription	Ovary	ovary
12	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
15	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:131417400-131422800	Weak transcription	NH-A	brain
17	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
18	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr8:131418000-131423600	Weak transcription	HepG2	liver
22	chr8:131418600-131428200	Weak transcription	HMEC	breast
23	chr8:131419600-131423400	Weak transcription	NHEK	skin
24	chr8:131419800-131423200	Weak transcription	Spleen	Spleen
25	chr8:131420000-131423400	Weak transcription	Lung	lung
26	chr8:131420200-131428200	Weak transcription	NHDF-Ad	bronchial
27	chr8:131420600-131422800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:131420600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:131420600-131428000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:131420600-131428200	Weak transcription	NHLF	lung
31	chr8:131420800-131423600	Weak transcription	Osteobl	bone
32	chr8:131420800-131424000	Weak transcription	Brain Germinal Matrix	brain
33	chr8:131421000-131422200	Enhancers	GM12878-XiMat	blood
34	chr8:131421000-131422600	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:131421000-131428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:131421200-131423400	Weak transcription	HUVEC	blood vessel
38	chr8:131421200-131424000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:131421600-131422200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:131421600-131422200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:131421600-131424000	Strong transcription	A549	lung
42	chr8:131421600-131424600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:131421600-131424800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:131421800-131422200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:131421800-131424200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:131421800-131424400	Enhancers	Left Ventricle	heart
47	chr8:131421800-131424400	Enhancers	Right Atrium	heart
48	chr8:131422000-131422200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:131422000-131422200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:131422000-131422200	Enhancers	Psoas Muscle	Psoas

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