Variant report

Variant	rs2718457
Chromosome Location	chr4:148568769-148568770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148567324..148568879-chr4:148605345..148606894,2	K562	blood:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10015717	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1005871	0.88[ASN][1000 genomes]
rs10519911	0.89[ASN][1000 genomes]
rs11099668	0.82[ASN][1000 genomes]
rs12507247	0.90[ASN][1000 genomes]
rs12510847	0.82[ASN][1000 genomes]
rs12510915	0.83[ASN][1000 genomes]
rs13108782	0.89[ASN][1000 genomes]
rs17675572	0.94[ASN][1000 genomes]
rs2036498	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2036500	0.87[ASN][1000 genomes]
rs2036501	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2357926	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2654937	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2654938	0.90[ASN][1000 genomes]
rs2654940	0.90[ASN][1000 genomes]
rs2654941	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2654948	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2654949	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2718447	0.97[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2718448	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2718449	0.98[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2718452	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2718453	0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2718454	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2718455	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2718458	0.98[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2884383	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4835439	0.80[ASN][1000 genomes]
rs4835440	0.80[ASN][1000 genomes]
rs4835441	0.86[ASN][1000 genomes]
rs4835445	0.88[ASN][1000 genomes]
rs57690385	0.92[ASN][1000 genomes]
rs60862021	0.83[ASN][1000 genomes]
rs6535552	0.89[ASN][1000 genomes]
rs6535553	0.88[ASN][1000 genomes]
rs6535554	0.88[ASN][1000 genomes]
rs6535555	0.84[ASN][1000 genomes]
rs6810521	0.84[ASN][1000 genomes]
rs6828566	0.83[ASN][1000 genomes]
rs6841745	0.92[ASN][1000 genomes]
rs6845224	0.88[ASN][1000 genomes]
rs6845592	0.88[ASN][1000 genomes]
rs6846220	0.88[ASN][1000 genomes]
rs7655893	0.90[ASN][1000 genomes]
rs7660361	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7664244	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7666065	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7672671	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7675850	0.90[ASN][1000 genomes]
rs7678612	0.83[ASN][1000 genomes]
rs7687368	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7690974	0.87[ASN][1000 genomes]
rs884761	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs905607	0.82[ASN][1000 genomes]
rs924783	0.87[ASN][1000 genomes]
rs9998065	0.87[AFR][1000 genomes];0.92[ASN][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	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
3	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:148548400-148599800	Weak transcription	Gastric	stomach
5	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
6	chr4:148549000-148576400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
9	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:148555600-148569200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:148556000-148574800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:148556000-148581000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:148556200-148569200	Weak transcription	Left Ventricle	heart
15	chr4:148556200-148575000	Weak transcription	Ovary	ovary
16	chr4:148556200-148576200	Weak transcription	Aorta	Aorta
17	chr4:148556400-148599600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:148556600-148595200	Weak transcription	NHLF	lung
19	chr4:148557200-148569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:148557600-148594000	Weak transcription	NHEK	skin
22	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:148558000-148578800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:148558200-148569200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:148558200-148569400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:148558200-148579000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:148558200-148603800	Weak transcription	A549	lung
28	chr4:148558400-148569000	Weak transcription	Brain Hippocampus Middle	brain
29	chr4:148558400-148569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:148558400-148576800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
32	chr4:148559400-148575000	Weak transcription	NH-A	brain
33	chr4:148559400-148599200	Weak transcription	HMEC	breast
34	chr4:148559800-148569000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:148559800-148569200	Weak transcription	HepG2	liver
36	chr4:148559800-148574200	Weak transcription	Adipose Nuclei	Adipose
37	chr4:148559800-148575400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:148559800-148575400	Weak transcription	Fetal Brain Female	brain
39	chr4:148560600-148576400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:148561000-148575000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:148561000-148575000	Weak transcription	HSMMtube	muscle
42	chr4:148561000-148577000	Weak transcription	HSMM	muscle
43	chr4:148561200-148596200	Weak transcription	NHDF-Ad	bronchial
44	chr4:148562400-148581000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:148562800-148569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:148562800-148575000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr4:148562800-148575600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:148562800-148585000	Weak transcription	Fetal Brain Male	brain
49	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart

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