Variant report

Variant	rs55979731
Chromosome Location	chr8:131188196-131188197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131187972..131189783-chr8:131206468..131207978,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55637017	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55686856	0.91[EUR][1000 genomes]
rs55692599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55724400	0.83[AMR][1000 genomes]
rs55758693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759431	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55821463	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823176	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55867508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55891945	0.91[EUR][1000 genomes]
rs55961633	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55968438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194038	0.85[AMR][1000 genomes]
rs56241132	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56285703	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56297697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56347021	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56349599	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6984045	0.91[EUR][1000 genomes]
rs6994242	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998031	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7014892	1.00[AFR][1000 genomes]
rs7815532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
5	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
8	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
9	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
10	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
13	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
14	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
16	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:131169600-131194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
20	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
23	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
25	chr8:131173600-131206600	Weak transcription	Dnd41	blood
26	chr8:131174600-131192800	Weak transcription	HepG2	liver
27	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:131177600-131191600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:131177800-131191200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:131177800-131192000	Strong transcription	Osteobl	bone
32	chr8:131179000-131194600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:131179000-131198800	Weak transcription	Fetal Lung	lung
34	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:131179200-131194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
37	chr8:131179400-131191400	Weak transcription	Brain Anterior Caudate	brain
38	chr8:131179400-131193800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr8:131179400-131197200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:131179400-131199800	Weak transcription	Lung	lung
41	chr8:131179600-131192600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:131179600-131194800	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:131179600-131198800	Weak transcription	Fetal Intestine Small	intestine
44	chr8:131179600-131199800	Weak transcription	Spleen	Spleen
45	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
46	chr8:131179800-131189600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:131179800-131190800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr8:131179800-131191200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:131179800-131194400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr8:131179800-131194600	Weak transcription	Primary B cells from cord blood	blood

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