Variant report

Variant	rs28485842
Chromosome Location	chr8:99223789-99223790
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	chr8:99223225..99225357-chr8:99305724..99307688,2	MCF-7	breast:
2	chr8:99223515..99225249-chr8:99231760..99233868,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10093356	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093623	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093678	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10093856	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10095790	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10095887	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10100633	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10108460	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1109159	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11987536	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12677283	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12680361	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12680980	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1542289	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16896763	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896768	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16896802	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2331809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2877460	0.85[ASN][1000 genomes]
rs2877495	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3779721	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734389	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734390	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735539	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735540	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55908268	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56906975	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57644890	0.82[EUR][1000 genomes]
rs60414868	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6468620	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009145	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72680644	0.94[EUR][1000 genomes]
rs896417	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99198200-99239200	Weak transcription	Lung	lung
3	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:99206600-99224400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:99206600-99239800	Weak transcription	Pancreas	Pancrea
7	chr8:99208000-99227600	Weak transcription	Esophagus	oesophagus
8	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
9	chr8:99213200-99225800	Weak transcription	Fetal Heart	heart
10	chr8:99213200-99239800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:99215000-99227800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:99215400-99225000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:99215400-99227600	Weak transcription	Ovary	ovary
14	chr8:99215800-99225000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:99216600-99245400	Weak transcription	Stomach Mucosa	stomach
16	chr8:99216800-99224800	Weak transcription	Left Ventricle	heart
17	chr8:99217000-99229800	Weak transcription	Psoas Muscle	Psoas
18	chr8:99217000-99234400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:99217000-99234600	Weak transcription	Fetal Intestine Large	intestine
20	chr8:99217200-99229200	Weak transcription	Aorta	Aorta
21	chr8:99217400-99227600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr8:99217400-99238800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr8:99217800-99235000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:99217800-99238600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:99218200-99227600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:99220600-99223800	Weak transcription	Osteobl	bone
28	chr8:99220600-99224000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:99220600-99224000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:99220600-99227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:99220600-99234600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:99220800-99224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:99222400-99226000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:99222400-99226400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:99222600-99224000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:99222800-99226200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:99223000-99224200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:99223200-99225000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:99223400-99226200	Enhancers	NHEK	skin
40	chr8:99223400-99226400	Enhancers	NHDF-Ad	bronchial
41	chr8:99223600-99223800	Enhancers	NH-A	brain
42	chr8:99223600-99224000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:99223600-99224200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:99223600-99224200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:99223600-99224200	Enhancers	Gastric	stomach
46	chr8:99223600-99225000	Enhancers	NHLF	lung
47	chr8:99223600-99226200	Enhancers	HMEC	breast
48	chr8:99223600-99226200	Enhancers	HSMM	muscle
49	chr8:99223600-99226400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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