Variant report

Variant	rs62303686
Chromosome Location	chr4:56293659-56293660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56292224..56294468-chr4:56294725..56296389,2	K562	blood:
2	chr4:56252794..56254836-chr4:56291101..56293839,2	MCF-7	breast:
3	chr4:56293289..56296469-chr4:56304349..56307875,3	K562	blood:
4	chr4:56293088..56294716-chr4:56298284..56300169,2	MCF-7	breast:
5	chr4:56291300..56293587-chr4:56293603..56296458,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273257	Chromatin interaction
ENSG00000249700	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs10012559	0.85[EUR][1000 genomes]
rs10034170	0.84[EUR][1000 genomes]
rs1021306	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1021307	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10462028	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10462033	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1048004	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866424	0.87[EUR][1000 genomes]
rs11240	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732481	0.83[EUR][1000 genomes]
rs11932595	0.89[ASN][1000 genomes]
rs12505265	0.89[EUR][1000 genomes]
rs12509047	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13133077	0.83[EUR][1000 genomes]
rs13134079	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1488941	0.82[ASN][1000 genomes]
rs1522109	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1546004	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17721215	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17721497	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17722870	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17722979	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17776975	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17779627	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1801260	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1967078	0.85[EUR][1000 genomes]
rs1979604	0.87[EUR][1000 genomes]
rs1979605	0.87[EUR][1000 genomes]
rs2070062	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2101476	0.82[EUR][1000 genomes]
rs2130038	0.83[EUR][1000 genomes]
rs2130040	0.86[EUR][1000 genomes]
rs2412658	0.83[EUR][1000 genomes]
rs2412659	0.83[EUR][1000 genomes]
rs2412661	0.83[EUR][1000 genomes]
rs3792603	0.96[ASN][1000 genomes]
rs3805156	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41324951	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4336288	0.83[EUR][1000 genomes]
rs4865006	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4865012	0.87[EUR][1000 genomes]
rs4865014	0.86[EUR][1000 genomes]
rs550144	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55729020	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55869433	0.82[ASN][1000 genomes]
rs55885973	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56056791	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56139168	0.89[ASN][1000 genomes]
rs56152424	0.83[EUR][1000 genomes]
rs56196624	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57338268	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57826934	0.89[ASN][1000 genomes]
rs58476959	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59648459	0.82[ASN][1000 genomes]
rs60097207	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303681	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303685	0.96[ASN][1000 genomes]
rs62303690	0.96[ASN][1000 genomes]
rs62303691	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62303692	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62303708	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62303709	0.96[ASN][1000 genomes]
rs62303711	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303712	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303713	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303715	0.86[ASN][1000 genomes]
rs62303716	0.86[ASN][1000 genomes]
rs62303718	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303722	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303724	0.86[ASN][1000 genomes]
rs62303726	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62303728	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62303730	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62303731	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62303732	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62305264	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62305265	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62305266	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62305267	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62305268	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62305269	0.82[ASN][1000 genomes]
rs62305270	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62305271	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62309728	0.82[ASN][1000 genomes]
rs62309729	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62309730	0.82[ASN][1000 genomes]
rs62309758	0.81[EUR][1000 genomes]
rs62310862	0.83[EUR][1000 genomes]
rs62310866	0.83[EUR][1000 genomes]
rs6554282	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6554283	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6554284	0.83[EUR][1000 genomes]
rs6554285	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6554287	0.86[EUR][1000 genomes]
rs6554290	0.85[EUR][1000 genomes]
rs6554291	0.85[EUR][1000 genomes]
rs67963898	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6802	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6822553	0.82[EUR][1000 genomes]
rs6828474	0.86[ASN][1000 genomes]
rs6830728	0.83[EUR][1000 genomes]
rs6846764	0.86[EUR][1000 genomes]
rs6848755	0.83[EUR][1000 genomes]
rs6851971	0.86[EUR][1000 genomes]
rs6853506	0.86[EUR][1000 genomes]
rs6856004	0.83[EUR][1000 genomes]
rs73236140	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73236142	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73236149	0.82[ASN][1000 genomes]
rs73236153	0.83[EUR][1000 genomes]
rs7659095	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7660668	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7665286	0.83[EUR][1000 genomes]
rs7665846	0.83[EUR][1000 genomes]
rs7676245	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681414	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7683997	0.83[EUR][1000 genomes]
rs7697067	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7698022	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs880358	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972446	0.85[EUR][1000 genomes]
rs9993599	0.83[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	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1011722	chr4:56261349-56325600	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56265600-56319800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56268800-56326000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56269000-56311400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:56274600-56332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:56275800-56300000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:56275800-56302200	Strong transcription	Fetal Thymus	thymus
7	chr4:56276000-56302400	Strong transcription	Dnd41	blood
8	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:56276200-56296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:56276200-56304400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:56276200-56310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:56276400-56297800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:56276600-56296400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:56276600-56303400	Strong transcription	Osteobl	bone
15	chr4:56276600-56305000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:56277000-56296800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:56277400-56302400	Strong transcription	HSMM	muscle
18	chr4:56277400-56306000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:56277600-56301800	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:56277600-56305000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:56277800-56302200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:56278200-56301000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:56279000-56294800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:56279000-56300200	Strong transcription	HUVEC	blood vessel
25	chr4:56279000-56321800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:56279200-56296200	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr4:56280000-56304800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:56280200-56296400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:56280400-56301000	Strong transcription	GM12878-XiMat	blood
30	chr4:56280600-56294800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:56280600-56296200	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:56280600-56300000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr4:56280600-56301400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:56280600-56302000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:56280600-56302200	Strong transcription	Primary B cells from cord blood	blood
36	chr4:56280600-56303400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr4:56280600-56305000	Strong transcription	Placenta	Placenta
38	chr4:56280600-56305200	Strong transcription	Adipose Nuclei	Adipose
39	chr4:56280800-56304800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr4:56280800-56311000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:56281000-56302200	Strong transcription	NH-A	brain
42	chr4:56281000-56303200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr4:56281200-56296200	Strong transcription	HSMMtube	muscle
44	chr4:56281600-56303600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr4:56281600-56304600	Strong transcription	Liver	Liver
46	chr4:56285800-56296000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr4:56285800-56304600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:56286800-56295800	Weak transcription	Psoas Muscle	Psoas
49	chr4:56287000-56295600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:56287000-56304600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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