Variant report

Variant	rs62303691
Chromosome Location	chr4:56308252-56308253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56302150..56304103-chr4:56306909..56309634,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10012559	0.86[EUR][1000 genomes]
rs10034170	0.85[EUR][1000 genomes]
rs1021306	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1021307	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10462028	0.96[ASN][1000 genomes]
rs10462033	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1048004	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10866424	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11240	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11732481	0.84[EUR][1000 genomes]
rs11932595	0.93[ASN][1000 genomes]
rs12505265	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12509047	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13133077	0.85[EUR][1000 genomes]
rs13134079	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1488941	0.86[ASN][1000 genomes]
rs1522109	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1546004	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17721215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17721497	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17722870	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17722979	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17776975	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17779627	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1801260	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967078	0.86[EUR][1000 genomes]
rs1979604	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1979605	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2070062	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2101476	0.83[EUR][1000 genomes]
rs2130038	0.85[EUR][1000 genomes]
rs2130040	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2412658	0.84[EUR][1000 genomes]
rs2412659	0.85[EUR][1000 genomes]
rs2412661	0.85[EUR][1000 genomes]
rs3087606	0.87[AMR][1000 genomes]
rs3792603	1.00[ASN][1000 genomes]
rs3805156	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41324951	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4336288	0.85[EUR][1000 genomes]
rs4865006	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4865012	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4865014	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs550144	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55729020	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55869433	0.86[ASN][1000 genomes]
rs55885973	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56056791	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56139168	0.86[ASN][1000 genomes]
rs56152424	0.85[EUR][1000 genomes]
rs56196624	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57338268	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57826934	0.93[ASN][1000 genomes]
rs58476959	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60097207	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303681	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303685	0.93[ASN][1000 genomes]
rs62303686	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62303690	1.00[ASN][1000 genomes]
rs62303692	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62303708	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62303709	1.00[ASN][1000 genomes]
rs62303711	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62303712	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62303713	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62303715	0.89[ASN][1000 genomes]
rs62303716	0.89[ASN][1000 genomes]
rs62303718	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303722	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62303724	0.89[ASN][1000 genomes]
rs62303726	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303728	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303730	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303731	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62303732	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62305264	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62305265	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62305266	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62305267	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62305268	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62305269	0.86[ASN][1000 genomes]
rs62305270	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62305271	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309728	0.86[ASN][1000 genomes]
rs62309729	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62309730	0.86[ASN][1000 genomes]
rs62309758	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62309759	0.81[ASN][1000 genomes]
rs62310862	0.85[EUR][1000 genomes]
rs62310866	0.85[EUR][1000 genomes]
rs6554282	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554283	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554284	0.84[EUR][1000 genomes]
rs6554285	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554287	0.87[EUR][1000 genomes]
rs6554290	0.86[EUR][1000 genomes]
rs6554291	0.86[EUR][1000 genomes]
rs67963898	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6802	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6822553	0.83[EUR][1000 genomes]
rs6828474	0.89[ASN][1000 genomes]
rs6830728	0.85[EUR][1000 genomes]
rs6846764	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6848755	0.85[EUR][1000 genomes]
rs6851971	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6853506	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6856004	0.84[EUR][1000 genomes]
rs73236140	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73236142	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73236149	0.86[ASN][1000 genomes]
rs73236153	0.85[EUR][1000 genomes]
rs7659095	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7660668	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7665286	0.85[EUR][1000 genomes]
rs7665846	0.84[EUR][1000 genomes]
rs7676245	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7681414	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7683997	0.85[EUR][1000 genomes]
rs7697067	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7698022	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs880358	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs972446	0.86[EUR][1000 genomes]
rs9993599	0.85[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	chr4:56276000-56320000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:56276200-56310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:56279000-56321800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:56280800-56311000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:56288400-56318400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:56290800-56340400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:56290800-56340600	Weak transcription	Thymus	Thymus
12	chr4:56291400-56308600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:56293000-56324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:56293000-56354800	Weak transcription	Aorta	Aorta
15	chr4:56294000-56311400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:56294000-56341200	Weak transcription	Small Intestine	intestine
17	chr4:56296200-56314600	Weak transcription	Psoas Muscle	Psoas
18	chr4:56296200-56314600	Weak transcription	Hela-S3	cervix
19	chr4:56299600-56311400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:56301600-56310800	Weak transcription	Ovary	ovary
21	chr4:56301600-56334800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:56301800-56313200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:56301800-56314000	Weak transcription	A549	lung
24	chr4:56301800-56314200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:56301800-56316200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:56301800-56316200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:56301800-56318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:56301800-56318000	Weak transcription	Right Ventricle	heart
29	chr4:56301800-56332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:56301800-56339200	Weak transcription	Fetal Brain Male	brain
31	chr4:56302000-56314000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:56302200-56308600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:56302200-56312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:56302200-56313200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:56302200-56313400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr4:56302200-56313600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:56302200-56314000	Weak transcription	Fetal Heart	heart
38	chr4:56302200-56314400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:56302200-56314800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:56302200-56315600	Weak transcription	Fetal Stomach	stomach
41	chr4:56302400-56309600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:56302600-56311600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:56303000-56310000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:56303000-56311400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:56303000-56340200	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:56303200-56309400	Strong transcription	Fetal Lung	lung
48	chr4:56303200-56310000	Strong transcription	Dnd41	blood
49	chr4:56303200-56311200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:56303600-56314200	Weak transcription	Brain Cingulate Gyrus	brain

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