Variant report

Variant	rs28495072
Chromosome Location	chr8:131192905-131192906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085959	0.86[AFR][1000 genomes]
rs10088575	0.82[AFR][1000 genomes]
rs10089819	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10091450	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10097893	0.83[AFR][1000 genomes]
rs10100892	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1031474	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1031475	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956512	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986237	0.82[AFR][1000 genomes]
rs12679149	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1426101	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16904211	0.80[AFR][1000 genomes]
rs2554369	0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2670885	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2670888	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2670890	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2670891	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791338	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2791342	0.84[ASN][1000 genomes]
rs2791343	0.83[ASN][1000 genomes]
rs2791350	0.81[EUR][1000 genomes]
rs28491737	0.83[AFR][1000 genomes]
rs2943086	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55756220	0.80[AFR][1000 genomes]
rs6415510	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470801	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6470804	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003309	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7004884	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7008507	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7846376	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9297805	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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:111 , 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	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
12	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
15	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:131169600-131194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
19	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
22	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
24	chr8:131173600-131206600	Weak transcription	Dnd41	blood
25	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:131179000-131194600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:131179000-131198800	Weak transcription	Fetal Lung	lung
29	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:131179200-131194600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
32	chr8:131179400-131193800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:131179400-131197200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:131179400-131199800	Weak transcription	Lung	lung
35	chr8:131179600-131194800	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:131179600-131198800	Weak transcription	Fetal Intestine Small	intestine
37	chr8:131179600-131199800	Weak transcription	Spleen	Spleen
38	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
39	chr8:131179800-131194400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:131179800-131194600	Weak transcription	Primary B cells from cord blood	blood
41	chr8:131179800-131194600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr8:131179800-131198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:131179800-131198600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:131179800-131198800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:131179800-131199200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:131179800-131205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:131179800-131206800	Weak transcription	Fetal Thymus	thymus
48	chr8:131179800-131207800	Weak transcription	Brain Germinal Matrix	brain
49	chr8:131180000-131206000	Weak transcription	K562	blood
50	chr8:131180200-131207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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