Variant report

Variant	rs62522576
Chromosome Location	chr8:103823993-103823994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103597181..103599862-chr8:103823976..103826204,2	K562	blood:
2	chr8:103681131..103683313-chr8:103821848..103824380,2	MCF-7	breast:
3	chr8:103602171..103604876-chr8:103822543..103824319,2	K562	blood:
4	chr8:103596405..103599934-chr8:103821942..103825203,3	MCF-7	breast:
5	chr8:103612475..103613967-chr8:103822902..103824162,4	MCF-7	breast:
6	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
7	chr8:103823248..103825038-chr8:103870591..103872347,2	K562	blood:
8	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
9	chr8:103742324..103745222-chr8:103822758..103824576,2	K562	blood:
10	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
11	chr8:103693070..103695216-chr8:103822636..103825245,2	K562	blood:
12	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
13	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
14	chr8:102504262..102506500-chr8:103822604..103825982,3	MCF-7	breast:
15	chr8:103732314..103735050-chr8:103822307..103824951,2	MCF-7	breast:
16	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
17	chr8:103507170..103509944-chr8:103823131..103824784,2	MCF-7	breast:
18	chr8:103604696..103605200-chr8:103823598..103824163,2	MCF-7	breast:
19	chr8:103249572..103251193-chr8:103822778..103825686,2	K562	blood:
20	chr8:103248364..103250740-chr8:103821721..103824052,2	MCF-7	breast:
21	chr8:103793774..103795372-chr8:103823540..103825118,2	MCF-7	breast:
22	chr8:103822430..103824657-chr8:104048690..104050803,2	MCF-7	breast:
23	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
24	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
25	chr8:103823562..103825489-chr8:103874490..103876820,2	K562	blood:
26	chr8:103601837..103604958-chr8:103822153..103824319,4	K562	blood:
27	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
28	chr8:103823092..103825494-chr8:103875474..103877752,2	K562	blood:
29	chr8:103739412..103741779-chr8:103821663..103824081,2	MCF-7	breast:
30	chr8:103623532..103635312-chr8:103817499..103824242,24	MCF-7	breast:
31	chr8:103769141..103772135-chr8:103823545..103826009,2	K562	blood:
32	chr8:103422161..103424073-chr8:103822681..103825599,2	MCF-7	breast:
33	chr8:103249693..103252813-chr8:103822764..103825686,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000048392	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000253382	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1019975	0.89[AMR][1000 genomes]
rs12546193	0.89[AMR][1000 genomes]
rs12546479	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546634	0.88[AMR][1000 genomes]
rs12546636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546960	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547200	0.89[AMR][1000 genomes]
rs12547652	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12548786	0.89[AMR][1000 genomes]
rs12549011	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549073	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550185	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123	0.89[AMR][1000 genomes]
rs17197736	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198079	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775450	0.89[AMR][1000 genomes]
rs17775510	0.89[AMR][1000 genomes]
rs2137339	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304348	0.89[AMR][1000 genomes]
rs2304349	0.89[AMR][1000 genomes]
rs2388369	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388370	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734670	0.89[AMR][1000 genomes]
rs4734672	0.89[AMR][1000 genomes]
rs4734673	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734674	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522573	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62522574	0.89[AMR][1000 genomes]
rs62522599	0.89[AMR][1000 genomes]
rs62522602	0.89[AMR][1000 genomes]
rs62522603	0.89[AMR][1000 genomes]
rs62522615	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522616	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522617	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522618	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522619	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522620	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522621	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522622	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522623	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522624	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522626	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526529	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999267	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	esv3402705	chr8:103821801-103824349	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103821600-103826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103822400-103824200	Flanking Active TSS	Dnd41	blood
3	chr8:103822800-103824000	Enhancers	HSMMtube	muscle
4	chr8:103822800-103824600	Weak transcription	Spleen	Spleen
5	chr8:103822800-103825200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:103822800-103825400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:103822800-103826400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:103822800-103837400	Weak transcription	Gastric	stomach
9	chr8:103823000-103824000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr8:103823000-103824000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:103823000-103824000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:103823000-103825000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:103823000-103825200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:103823000-103825200	Weak transcription	Colonic Mucosa	Colon
15	chr8:103823000-103825200	Weak transcription	Lung	lung
16	chr8:103823000-103826200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:103823000-103826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:103823000-103826400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr8:103823000-103826600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:103823000-103826600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:103823000-103826600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:103823000-103826800	Weak transcription	Left Ventricle	heart
23	chr8:103823000-103831600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:103823000-103835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:103823000-103835600	Weak transcription	Adipose Nuclei	Adipose
26	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
29	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
30	chr8:103823200-103824000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:103823200-103824000	Flanking Active TSS	HepG2	liver
32	chr8:103823200-103824000	Enhancers	HSMM	muscle
33	chr8:103823200-103825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:103823200-103825400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
36	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
37	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
38	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
39	chr8:103823600-103824000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr8:103823600-103824000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr8:103823600-103824000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:103823600-103824000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:103823600-103824000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:103823600-103824000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr8:103823600-103824000	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr8:103823600-103824000	Enhancers	Fetal Lung	lung
47	chr8:103823600-103824000	Enhancers	Rectal Smooth Muscle	rectum
48	chr8:103823600-103824000	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr8:103823600-103824000	Enhancers	A549	lung
50	chr8:103823600-103824000	Enhancers	HMEC	breast

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