Variant report

Variant	rs2718448
Chromosome Location	chr4:148557553-148557554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148554354..148557729-chr4:148560321..148563884,3	K562	blood:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10015717	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1005871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10519911	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11099668	0.84[ASN][1000 genomes]
rs12507247	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12510847	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12510915	0.81[ASN][1000 genomes]
rs13108782	0.91[ASN][1000 genomes]
rs17023732	0.82[CHB][hapmap]
rs17675572	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2036498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036500	0.93[ASN][1000 genomes]
rs2036501	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2357926	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2358097	0.82[CHB][hapmap]
rs2654937	0.94[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2654938	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2654940	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[ASN][1000 genomes]
rs2654941	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2654948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2654949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718447	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718452	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2718453	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2718454	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2718455	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2718457	0.97[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2718458	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2884383	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4379049	0.82[CHB][hapmap]
rs4835439	0.84[ASN][1000 genomes]
rs4835440	0.84[ASN][1000 genomes]
rs4835441	0.88[ASN][1000 genomes]
rs4835445	0.90[ASN][1000 genomes]
rs57690385	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60862021	0.89[ASN][1000 genomes]
rs6535552	0.91[ASN][1000 genomes]
rs6535553	0.90[ASN][1000 genomes]
rs6535554	0.90[ASN][1000 genomes]
rs6535555	0.86[ASN][1000 genomes]
rs6810521	0.86[ASN][1000 genomes]
rs6828566	0.85[ASN][1000 genomes]
rs6841745	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6845224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6845592	0.83[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.94[ASN][1000 genomes]
rs6846220	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs7655893	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7660361	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7664244	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7666065	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7672671	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7675850	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7678612	0.85[ASN][1000 genomes]
rs7687368	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7690974	0.89[ASN][1000 genomes]
rs884761	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs905607	0.83[ASN][1000 genomes]
rs924783	0.89[ASN][1000 genomes]
rs9998065	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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:124 , 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	chr4:148540800-148561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:148541400-148563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:148542200-148564200	Strong transcription	Fetal Thymus	thymus
5	chr4:148542400-148560400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr4:148542400-148562200	Weak transcription	Fetal Brain Male	brain
7	chr4:148542400-148575000	Weak transcription	Small Intestine	intestine
8	chr4:148542400-148576600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:148542600-148565200	Weak transcription	Fetal Heart	heart
10	chr4:148542600-148567400	Weak transcription	Stomach Mucosa	stomach
11	chr4:148543000-148560400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:148543200-148559600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:148543200-148560800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:148543600-148559000	Strong transcription	Placenta	Placenta
15	chr4:148543600-148560000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr4:148543800-148558200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr4:148543800-148558800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr4:148543800-148559000	Strong transcription	Osteobl	bone
19	chr4:148543800-148559800	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr4:148543800-148560000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:148543800-148560200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:148543800-148560200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:148543800-148560400	Strong transcription	HSMM	muscle
24	chr4:148543800-148563800	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:148543800-148564200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:148543800-148565400	Strong transcription	Liver	Liver
27	chr4:148544000-148558800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr4:148544000-148560000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:148544400-148560200	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:148544600-148560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:148545000-148559800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr4:148545600-148558400	Strong transcription	HUVEC	blood vessel
33	chr4:148548400-148599800	Weak transcription	Gastric	stomach
34	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
35	chr4:148548800-148562000	Weak transcription	Right Ventricle	heart
36	chr4:148549000-148576400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:148549400-148559800	Strong transcription	Adipose Nuclei	Adipose
39	chr4:148549400-148563400	Strong transcription	Dnd41	blood
40	chr4:148549600-148560200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr4:148550600-148558400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:148550600-148558800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:148550600-148559000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:148550600-148559000	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:148550600-148559400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
47	chr4:148551800-148558600	Strong transcription	NHDF-Ad	bronchial
48	chr4:148551800-148560200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:148552800-148559600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:148553000-148558000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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