Variant report

Variant	rs72947870
Chromosome Location	chr4:148591114-148591115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10011891	0.83[AMR][1000 genomes]
rs10023419	0.83[AMR][1000 genomes]
rs10029636	0.83[AMR][1000 genomes]
rs10034181	0.83[AMR][1000 genomes]
rs11931510	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11932755	1.00[AMR][1000 genomes]
rs11932883	1.00[AMR][1000 genomes]
rs17023581	0.85[AMR][1000 genomes]
rs28416885	0.83[AMR][1000 genomes]
rs28579791	0.83[AMR][1000 genomes]
rs28676674	0.85[AMR][1000 genomes]
rs34001293	1.00[AMR][1000 genomes]
rs57632432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58012022	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58285779	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965352	0.83[AMR][1000 genomes]
rs59938265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61312957	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61355480	1.00[AMR][1000 genomes]
rs61363583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945871	1.00[AMR][1000 genomes]
rs72945873	1.00[AMR][1000 genomes]
rs72945877	1.00[AMR][1000 genomes]
rs72945879	1.00[AMR][1000 genomes]
rs72945896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949789	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949795	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949796	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949798	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951406	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951412	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951422	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72951423	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72953473	0.83[AMR][1000 genomes]
rs72953477	0.83[AMR][1000 genomes]
rs72953481	0.83[AMR][1000 genomes]
rs72953502	0.83[AMR][1000 genomes]
rs72955506	0.83[AMR][1000 genomes]
rs9993312	0.85[AMR][1000 genomes]
rs9996365	0.83[AMR][1000 genomes]
rs9997304	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	esv3329646	chr4:148590774-148611959	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148548400-148599800	Weak transcription	Gastric	stomach
2	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
3	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
5	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:148556400-148599600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:148556600-148595200	Weak transcription	NHLF	lung
9	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:148557600-148594000	Weak transcription	NHEK	skin
11	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:148558200-148603800	Weak transcription	A549	lung
13	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
14	chr4:148559400-148599200	Weak transcription	HMEC	breast
15	chr4:148561200-148596200	Weak transcription	NHDF-Ad	bronchial
16	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
18	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
19	chr4:148563800-148599800	Weak transcription	Spleen	Spleen
20	chr4:148565000-148602200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:148568400-148603800	Weak transcription	Fetal Kidney	kidney
22	chr4:148568800-148600400	Weak transcription	Psoas Muscle	Psoas
23	chr4:148569400-148604000	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:148570200-148599400	Weak transcription	K562	blood
25	chr4:148570400-148595800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:148570400-148604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:148571600-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:148574600-148596800	Strong transcription	Primary T cells from cord blood	blood
29	chr4:148575600-148599800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:148575600-148604000	Weak transcription	Brain Substantia Nigra	brain
31	chr4:148575800-148599600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:148576400-148603800	Weak transcription	Small Intestine	intestine
33	chr4:148577000-148604400	Weak transcription	Aorta	Aorta
34	chr4:148577200-148595800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:148577200-148604000	Weak transcription	Colonic Mucosa	Colon
36	chr4:148577400-148604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:148577600-148599200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:148577600-148599800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:148577600-148600200	Weak transcription	Lung	lung
40	chr4:148577600-148603800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:148577600-148603800	Weak transcription	Brain Anterior Caudate	brain
42	chr4:148577600-148604200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:148579400-148599600	Weak transcription	HSMMtube	muscle
44	chr4:148579600-148603800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:148579600-148603800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr4:148580000-148603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:148580000-148603800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:148580800-148593600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:148581200-148599600	Weak transcription	HepG2	liver
50	chr4:148581800-148595200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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