Variant report

Variant	rs28714207
Chromosome Location	chr4:151004550-151004551
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10000923	0.96[EUR][1000 genomes]
rs10002404	0.96[EUR][1000 genomes]
rs10003178	1.00[ASN][1000 genomes]
rs10004347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10004630	0.87[ASN][1000 genomes]
rs10005992	0.97[ASN][1000 genomes]
rs10011368	0.94[ASN][1000 genomes]
rs10014161	0.96[EUR][1000 genomes]
rs10014266	0.94[ASN][1000 genomes]
rs10016602	0.92[EUR][1000 genomes]
rs10018922	1.00[ASN][1000 genomes]
rs10022936	0.94[ASN][1000 genomes]
rs10024397	0.96[EUR][1000 genomes]
rs10024701	0.94[EUR][1000 genomes]
rs10026506	0.94[ASN][1000 genomes]
rs10027662	0.94[ASN][1000 genomes]
rs10031412	1.00[ASN][1000 genomes]
rs10031447	0.96[EUR][1000 genomes]
rs10440445	0.96[EUR][1000 genomes]
rs11721351	0.96[EUR][1000 genomes]
rs11726792	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11728756	0.96[EUR][1000 genomes]
rs12502816	0.96[EUR][1000 genomes]
rs12503886	0.96[EUR][1000 genomes]
rs12503967	0.96[EUR][1000 genomes]
rs28360726	0.94[ASN][1000 genomes]
rs28374205	1.00[ASN][1000 genomes]
rs28392881	0.94[ASN][1000 genomes]
rs28397206	0.94[ASN][1000 genomes]
rs28413051	1.00[ASN][1000 genomes]
rs28416593	0.92[ASN][1000 genomes]
rs28423983	0.94[ASN][1000 genomes]
rs28439804	0.94[ASN][1000 genomes]
rs28470198	0.96[EUR][1000 genomes]
rs28489242	0.96[EUR][1000 genomes]
rs28504590	0.96[EUR][1000 genomes]
rs28513621	1.00[ASN][1000 genomes]
rs28555093	0.96[EUR][1000 genomes]
rs28559901	0.92[ASN][1000 genomes]
rs28581399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28644462	0.97[EUR][1000 genomes]
rs28654919	0.94[ASN][1000 genomes]
rs28733182	0.97[EUR][1000 genomes]
rs28735454	0.94[ASN][1000 genomes]
rs28781622	0.96[EUR][1000 genomes]
rs28806288	0.81[ASN][1000 genomes]
rs28840424	0.96[EUR][1000 genomes]
rs28887006	0.94[ASN][1000 genomes]
rs28896206	0.94[ASN][1000 genomes]
rs34368156	0.92[EUR][1000 genomes]
rs34450486	0.95[EUR][1000 genomes]
rs35939331	0.96[EUR][1000 genomes]
rs4259040	1.00[ASN][1000 genomes]
rs4339189	0.94[ASN][1000 genomes]
rs4356899	1.00[ASN][1000 genomes]
rs4358376	0.96[EUR][1000 genomes]
rs4405992	0.96[EUR][1000 genomes]
rs4414936	0.96[EUR][1000 genomes]
rs4422402	0.93[EUR][1000 genomes]
rs4423856	0.94[ASN][1000 genomes]
rs4429716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4429717	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4459971	0.94[ASN][1000 genomes]
rs4481220	0.96[EUR][1000 genomes]
rs4530613	0.96[EUR][1000 genomes]
rs4546227	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4583735	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4616733	0.93[EUR][1000 genomes]
rs4619871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4631016	0.94[ASN][1000 genomes]
rs4635802	0.97[EUR][1000 genomes]
rs56227408	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60160057	1.00[ASN][1000 genomes]
rs60356991	0.96[EUR][1000 genomes]
rs61361070	1.00[ASN][1000 genomes]
rs62338171	0.95[EUR][1000 genomes]
rs62339860	0.94[ASN][1000 genomes]
rs62339861	0.94[ASN][1000 genomes]
rs62339874	0.94[ASN][1000 genomes]
rs62339875	0.94[ASN][1000 genomes]
rs62339876	0.94[ASN][1000 genomes]
rs62339877	0.94[ASN][1000 genomes]
rs62339878	0.94[ASN][1000 genomes]
rs62339880	0.94[ASN][1000 genomes]
rs62339909	0.94[ASN][1000 genomes]
rs62339911	0.96[EUR][1000 genomes]
rs62341684	0.86[AMR][1000 genomes]
rs62341686	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6818273	0.94[EUR][1000 genomes]
rs6848344	0.81[ASN][1000 genomes]
rs7436161	0.96[EUR][1000 genomes]
rs7659009	0.94[ASN][1000 genomes]
rs7665011	0.93[EUR][1000 genomes]
rs7668293	0.94[EUR][1000 genomes]
rs7689735	0.93[EUR][1000 genomes]
rs7692823	0.95[EUR][1000 genomes]
rs9307863	1.00[ASN][1000 genomes]
rs9307864	0.97[EUR][1000 genomes]
rs9307865	0.97[EUR][1000 genomes]
rs9307866	0.96[EUR][1000 genomes]
rs9307867	0.96[EUR][1000 genomes]
rs9784426	0.94[ASN][1000 genomes]
rs9968348	0.89[ASN][1000 genomes]
rs9968350	0.96[EUR][1000 genomes]
rs9968351	0.94[ASN][1000 genomes]
rs9968416	0.96[EUR][1000 genomes]
rs9968430	0.96[EUR][1000 genomes]
rs9968497	0.96[EUR][1000 genomes]
rs9985766	0.94[ASN][1000 genomes]
rs9986068	0.95[EUR][1000 genomes]
rs9992090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9992748	0.94[ASN][1000 genomes]
rs9996035	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv830111	chr4:150867357-151035556	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv530158	chr4:150877557-151040992	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151001000-151005200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:151001000-151020000	Weak transcription	Aorta	Aorta
3	chr4:151001200-151004800	Active TSS	Brain Germinal Matrix	brain
4	chr4:151002000-151011800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:151002000-151012000	Weak transcription	Fetal Lung	lung
6	chr4:151002000-151026200	Weak transcription	Left Ventricle	heart
7	chr4:151002400-151006000	Weak transcription	HSMM	muscle
8	chr4:151002400-151006000	Weak transcription	HSMMtube	muscle
9	chr4:151002400-151008200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:151002400-151016600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:151002600-151010600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:151002600-151012000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:151003000-151024200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:151003600-151004600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:151003600-151004600	Weak transcription	Fetal Brain Male	brain
16	chr4:151003800-151004600	Enhancers	A549	lung
17	chr4:151004000-151005000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:151004000-151005600	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:151004200-151004800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:151004400-151004600	Enhancers	Fetal Brain Female	brain
21	chr4:151004400-151004800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:151004400-151019000	Weak transcription	Osteobl	bone
23	chr4:151004400-151019200	Weak transcription	Fetal Heart	heart

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