Variant report

Variant	rs2718451
Chromosome Location	chr4:148576970-148576971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10003944	1.00[EUR][1000 genomes]
rs10012917	1.00[EUR][1000 genomes]
rs10017079	1.00[EUR][1000 genomes]
rs10020557	1.00[EUR][1000 genomes]
rs10024734	1.00[EUR][1000 genomes]
rs10031628	1.00[EUR][1000 genomes]
rs10032638	1.00[EUR][1000 genomes]
rs10305926	1.00[EUR][1000 genomes]
rs1105266	1.00[EUR][1000 genomes]
rs11933787	1.00[EUR][1000 genomes]
rs11934646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11935436	1.00[EUR][1000 genomes]
rs11939191	1.00[EUR][1000 genomes]
rs11940536	1.00[EUR][1000 genomes]
rs1503863	1.00[EUR][1000 genomes]
rs1517135	1.00[EUR][1000 genomes]
rs17023736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023827	1.00[AMR][1000 genomes]
rs2036499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2358096	1.00[EUR][1000 genomes]
rs2654947	0.82[AFR][1000 genomes]
rs28551143	1.00[EUR][1000 genomes]
rs6535551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6824884	1.00[EUR][1000 genomes]
rs6848211	1.00[AMR][1000 genomes]
rs6854158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7663257	1.00[AMR][1000 genomes]
rs7673515	1.00[EUR][1000 genomes]
rs7681275	1.00[EUR][1000 genomes]
rs7699281	1.00[AMR][1000 genomes]
rs9308219	1.00[EUR][1000 genomes]
rs9308220	1.00[EUR][1000 genomes]
rs9308221	1.00[EUR][1000 genomes]
rs931779	1.00[EUR][1000 genomes]
rs9884319	1.00[EUR][1000 genomes]
rs9884495	1.00[EUR][1000 genomes]
rs9997823	1.00[EUR][1000 genomes]
rs9999853	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:124 , 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	chr4:148556000-148581000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:148556400-148599600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:148556600-148595200	Weak transcription	NHLF	lung
10	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:148557600-148594000	Weak transcription	NHEK	skin
12	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:148558000-148578800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:148558200-148579000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:148558200-148603800	Weak transcription	A549	lung
16	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
17	chr4:148559400-148599200	Weak transcription	HMEC	breast
18	chr4:148561000-148577000	Weak transcription	HSMM	muscle
19	chr4:148561200-148596200	Weak transcription	NHDF-Ad	bronchial
20	chr4:148562400-148581000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr4:148562800-148585000	Weak transcription	Fetal Brain Male	brain
22	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
24	chr4:148563200-148578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:148563600-148577400	Weak transcription	Lung	lung
26	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
27	chr4:148563800-148599800	Weak transcription	Spleen	Spleen
28	chr4:148565000-148602200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:148566000-148577000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:148568400-148582400	Weak transcription	Stomach Mucosa	stomach
31	chr4:148568400-148603800	Weak transcription	Fetal Kidney	kidney
32	chr4:148568600-148578600	Weak transcription	Osteobl	bone
33	chr4:148568800-148584000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:148568800-148600400	Weak transcription	Psoas Muscle	Psoas
35	chr4:148569000-148580000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:148569400-148604000	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:148570000-148577400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:148570000-148578800	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:148570200-148577200	Weak transcription	Placenta	Placenta
40	chr4:148570200-148599400	Weak transcription	K562	blood
41	chr4:148570400-148578000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:148570400-148595800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:148570400-148604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:148570600-148578800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:148570800-148583200	Weak transcription	Fetal Heart	heart
46	chr4:148571600-148579000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:148571600-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:148572800-148578800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:148572800-148585600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr4:148573200-148579000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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