Variant report

Variant	rs62523093
Chromosome Location	chr8:103327342-103327343
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103315506..103318243-chr8:103326156..103330411,3	MCF-7	breast:
2	chr8:103320694..103323615-chr8:103327057..103329412,3	K562	blood:
3	chr8:103321058..103323615-chr8:103327057..103329055,3	K562	blood:
4	chr8:103327228..103329926-chr8:103422908..103424806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505028	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16869377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16869423	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2293983	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4427141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62523061	0.84[ASN][1000 genomes]
rs62523097	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62523098	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62523142	0.84[EUR][1000 genomes]
rs62524305	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72606689	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72606690	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:103263400-103327800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:103263400-103327800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:103267400-103327800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:103267600-103327800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:103268200-103327600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:103268200-103328000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:103299800-103327600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:103299800-103329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:103299800-103329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:103300000-103328200	Strong transcription	HSMM	muscle
15	chr8:103300000-103328600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:103300000-103329400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:103300000-103329800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr8:103300000-103330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
20	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:103300400-103327400	Strong transcription	Liver	Liver
22	chr8:103300400-103327600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:103300800-103327600	Strong transcription	Placenta	Placenta
25	chr8:103300800-103328200	Strong transcription	Dnd41	blood
26	chr8:103301000-103327400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:103301800-103327400	Strong transcription	K562	blood
28	chr8:103304000-103328000	Strong transcription	Primary B cells from cord blood	blood
29	chr8:103304400-103328200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:103304600-103329400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr8:103308000-103338200	Weak transcription	Gastric	stomach
32	chr8:103313600-103329400	Strong transcription	Fetal Thymus	thymus
33	chr8:103313600-103329600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:103318200-103338200	Weak transcription	Aorta	Aorta
35	chr8:103318400-103329200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:103318800-103329800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
38	chr8:103320000-103327400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:103320200-103329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:103322400-103327400	Strong transcription	HMEC	breast
41	chr8:103323000-103327600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:103323200-103329200	Weak transcription	Fetal Intestine Small	intestine
43	chr8:103323200-103329400	Weak transcription	Esophagus	oesophagus
44	chr8:103323400-103328800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:103323600-103338200	Weak transcription	Brain Angular Gyrus	brain
46	chr8:103323800-103338400	Weak transcription	Pancreas	Pancrea
47	chr8:103324200-103339200	Weak transcription	Fetal Kidney	kidney
48	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
49	chr8:103324800-103335600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:103324800-103338200	Weak transcription	Spleen	Spleen

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