Variant report

Variant	rs2975428
Chromosome Location	chr8:19501904-19501905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35446114	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4535751	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs4922075	1.00[CEU][hapmap]
rs7843357	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19495800-19508600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:19496000-19502400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:19496000-19503000	Weak transcription	Pancreas	Pancrea
5	chr8:19496000-19503000	Weak transcription	Right Atrium	heart
6	chr8:19496000-19503000	Weak transcription	Spleen	Spleen
7	chr8:19496000-19504200	Weak transcription	Right Ventricle	heart
8	chr8:19496200-19502600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:19497600-19502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:19498200-19508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:19499600-19508200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:19500000-19502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:19500200-19502400	Weak transcription	Brain Anterior Caudate	brain
14	chr8:19500200-19502600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:19500200-19502600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:19500200-19502800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:19500200-19502800	Weak transcription	Lung	lung
18	chr8:19500200-19503000	Weak transcription	Esophagus	oesophagus
19	chr8:19500200-19503000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:19500200-19504000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:19500400-19502400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:19500400-19502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:19500400-19502600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:19500400-19502600	Weak transcription	Fetal Lung	lung
25	chr8:19500400-19502600	Weak transcription	HMEC	breast
26	chr8:19500400-19502800	Weak transcription	Left Ventricle	heart
27	chr8:19500400-19502800	Enhancers	A549	lung
28	chr8:19500400-19502800	Weak transcription	NH-A	brain
29	chr8:19500400-19504600	Weak transcription	NHDF-Ad	bronchial
30	chr8:19500400-19510600	Weak transcription	NHLF	lung
31	chr8:19500400-19519600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:19500600-19502600	Weak transcription	Osteobl	bone
33	chr8:19501000-19510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:19501200-19503000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:19501400-19504400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr8:19501600-19502600	Weak transcription	Hela-S3	cervix
37	chr8:19501600-19502800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:19501600-19503200	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:19501600-19503400	Enhancers	Primary B cells from cord blood	blood
40	chr8:19501800-19502000	Enhancers	Primary hematopoietic stem cells	blood
41	chr8:19501800-19502200	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:19501800-19502200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:19501800-19502800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:19501800-19503000	Enhancers	Primary monocytes fromperipheralblood	blood

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