Variant report

Variant	rs28618232
Chromosome Location	chr8:92031745-92031746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92017586..92020319-chr8:92031030..92033233,2	K562	blood:
2	chr8:92030641..92032494-chr8:92052055..92054477,2	MCF-7	breast:
3	chr8:92030839..92032914-chr8:92080520..92082573,3	K562	blood:
4	chr8:92025815..92029280-chr8:92031287..92035096,5	K562	blood:
5	chr8:92030935..92034138-chr8:92080148..92083540,3	K562	blood:
6	chr8:92029069..92031274-chr8:92031690..92034648,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253738	Chromatin interaction
ENSG00000155099	Chromatin interaction
ENSG00000155100	Chromatin interaction
ENSG00000253358	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1002583	0.87[EUR][1000 genomes]
rs10106570	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1038545	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1038546	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1055146	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10808632	0.82[EUR][1000 genomes]
rs10808633	0.82[EUR][1000 genomes]
rs10808634	0.82[EUR][1000 genomes]
rs1159962	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1160329	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11780153	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1386113	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1471847	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1486464	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1486468	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1552397	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1825691	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1973282	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1973283	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2019889	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2035595	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2054806	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2101378	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631007	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631008	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2631011	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2631013	0.80[AMR][1000 genomes]
rs2631015	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2631018	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631023	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631025	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631026	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631029	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631031	0.83[EUR][1000 genomes]
rs2631032	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2677572	0.84[ASN][1000 genomes]
rs2677574	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2677581	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2740772	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740773	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740774	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740775	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2740776	0.81[AMR][1000 genomes]
rs2740778	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2740779	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2740780	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2740781	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2740784	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2740785	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2740788	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2740791	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2740796	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2740798	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2740801	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2740802	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28404401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28675099	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34213675	0.82[AFR][1000 genomes]
rs35972814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4529427	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72664410	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7818155	0.84[AMR][1000 genomes]
rs7818187	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828122	0.84[AMR][1000 genomes]
rs7831333	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832881	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837376	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs931336	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs931337	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs997898	0.82[EUR][1000 genomes]
rs997899	0.82[EUR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:92014600-92033000	Weak transcription	Fetal Intestine Small	intestine
3	chr8:92014800-92032400	Weak transcription	Spleen	Spleen
4	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
5	chr8:92023600-92045600	Weak transcription	Right Ventricle	heart
6	chr8:92025200-92032400	Strong transcription	Placenta	Placenta
7	chr8:92025400-92032600	Strong transcription	Fetal Thymus	thymus
8	chr8:92026000-92038400	Weak transcription	Esophagus	oesophagus
9	chr8:92026200-92031800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:92026400-92032200	Strong transcription	Thymus	Thymus
11	chr8:92026400-92032400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:92026400-92032600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:92026800-92032400	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr8:92027200-92032000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:92027200-92032200	Strong transcription	Left Ventricle	heart
16	chr8:92027400-92032200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:92027800-92032200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:92027800-92033400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:92028000-92032200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:92028000-92032200	Weak transcription	Fetal Intestine Large	intestine
21	chr8:92028000-92032600	Strong transcription	Adipose Nuclei	Adipose
22	chr8:92028000-92032800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:92028000-92034400	Weak transcription	Small Intestine	intestine
24	chr8:92028000-92035200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr8:92028000-92036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:92028000-92038000	Weak transcription	Brain Germinal Matrix	brain
27	chr8:92028000-92038000	Weak transcription	Psoas Muscle	Psoas
28	chr8:92028200-92032200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr8:92028200-92032400	Strong transcription	Fetal Lung	lung
30	chr8:92028200-92032600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:92028200-92049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:92028400-92032200	Strong transcription	NH-A	brain
33	chr8:92028400-92033600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:92028600-92032000	Weak transcription	Gastric	stomach
35	chr8:92028600-92032200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr8:92028600-92032600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:92028800-92032000	Strong transcription	Brain Cingulate Gyrus	brain
38	chr8:92028800-92032600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:92029000-92032400	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr8:92029000-92032400	Strong transcription	Primary B cells from peripheral blood	blood
41	chr8:92029000-92032400	Strong transcription	Primary T cells from cord blood	blood
42	chr8:92029000-92032600	Strong transcription	HSMM	muscle
43	chr8:92029000-92033200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:92029000-92033400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:92029000-92033400	Strong transcription	NHDF-Ad	bronchial
46	chr8:92029000-92033800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:92029000-92034800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:92029200-92032200	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:92029200-92032600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:92029200-92032600	Strong transcription	GM12878-XiMat	blood

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