Variant report

Variant	rs62286003
Chromosome Location	chr4:8383215-8383216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8380856..8382490-chr4:8382492..8384875,2	MCF-7	breast:
2	chr4:8380860..8383722-chr4:8386573..8388850,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1060617	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1106591	0.91[AMR][1000 genomes]
rs13434465	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16842352	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17194220	1.00[EUR][1000 genomes]
rs17201848	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17202499	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17203215	0.82[AMR][1000 genomes]
rs17203243	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17806817	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17806883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17807929	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17807994	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28507650	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28664136	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61739067	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286002	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286005	1.00[EUR][1000 genomes]
rs62286035	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286038	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286040	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286041	1.00[EUR][1000 genomes]
rs62286042	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286043	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286044	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62286047	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286049	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286050	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286052	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286053	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286054	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286055	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286056	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62286058	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62286059	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287360	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287361	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287362	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62287382	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287383	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287384	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287385	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287387	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287390	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287392	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62287393	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287394	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287395	0.91[AMR][1000 genomes]
rs62287396	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62287397	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287399	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287401	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287402	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287405	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287406	0.80[EUR][1000 genomes]
rs62287433	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287434	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62287435	0.82[AMR][1000 genomes]
rs62287436	0.80[EUR][1000 genomes]
rs62287439	0.82[AMR][1000 genomes]
rs62287440	0.82[AMR][1000 genomes]
rs62287441	0.82[AMR][1000 genomes]
rs7686109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs940132	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv878608	chr4:8349738-8386720	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv461219	chr4:8353829-8390646	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv593637	chr4:8353829-8390646	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
12	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription 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	9 gene(s)	inside rSNPs	diseases
13	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8355800-8384800	Weak transcription	Fetal Lung	lung
2	chr4:8360400-8394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:8360400-8395600	Weak transcription	NHEK	skin
4	chr4:8362000-8395400	Weak transcription	Fetal Brain Male	brain
5	chr4:8364000-8383400	Weak transcription	Colonic Mucosa	Colon
6	chr4:8364000-8388600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:8364200-8387000	Weak transcription	Dnd41	blood
8	chr4:8364800-8387000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:8364800-8392400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:8365000-8385000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:8365200-8385000	Weak transcription	NHLF	lung
12	chr4:8365400-8383600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:8365600-8388800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:8365800-8383600	Strong transcription	Fetal Stomach	stomach
15	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:8366800-8386000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:8366800-8390000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:8367400-8384800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:8367400-8386800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:8367800-8384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:8368400-8388400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:8368800-8384200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:8368800-8386600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:8368800-8388800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:8372200-8387000	Strong transcription	Pancreas	Pancrea
26	chr4:8372600-8384000	Strong transcription	Placenta	Placenta
27	chr4:8372600-8389800	Strong transcription	Esophagus	oesophagus
28	chr4:8372800-8385000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:8373000-8385000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr4:8373000-8388200	Weak transcription	Osteobl	bone
31	chr4:8373200-8384800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
33	chr4:8374600-8383600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:8374800-8386800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:8375400-8383400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:8375400-8383600	Strong transcription	Spleen	Spleen
38	chr4:8375400-8383800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:8376200-8386400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:8376400-8386600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:8376600-8384200	Strong transcription	Aorta	Aorta
42	chr4:8376600-8386200	Weak transcription	Brain Angular Gyrus	brain
43	chr4:8377000-8388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:8377400-8385200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:8378000-8391800	Strong transcription	Fetal Brain Female	brain
46	chr4:8378400-8385600	Weak transcription	NH-A	brain
47	chr4:8378600-8383600	Strong transcription	Adipose Nuclei	Adipose
48	chr4:8378600-8384000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:8378600-8384800	Weak transcription	HSMM	muscle
50	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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