Variant report

Variant	rs11988991
Chromosome Location	chr8:19413492-19413493
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096224	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10282938	0.81[AMR][1000 genomes]
rs10282948	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10283186	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11988176	0.84[AMR][1000 genomes]
rs12334858	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13260841	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34362100	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35265506	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4507779	0.84[AMR][1000 genomes]
rs4549790	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563899	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922059	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4922062	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55808915	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586847	0.84[ASN][1000 genomes]
rs6586848	0.85[ASN][1000 genomes]
rs6986805	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996732	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998022	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	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
13	nsv982131	chr8:19410907-19416541	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
3	chr8:19402400-19415000	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:19409000-19437400	Weak transcription	Gastric	stomach
5	chr8:19409200-19414000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:19409200-19414000	Weak transcription	Right Ventricle	heart
7	chr8:19409200-19414200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:19409200-19414200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:19409200-19414600	Weak transcription	Left Ventricle	heart
10	chr8:19409200-19415800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:19409200-19418000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:19409200-19418000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:19409400-19414000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:19409400-19414800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:19409400-19415600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:19410600-19415000	Weak transcription	Aorta	Aorta
17	chr8:19411000-19415800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:19411800-19413600	Enhancers	Primary B cells from cord blood	blood
19	chr8:19411800-19413600	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:19412200-19415200	Enhancers	Fetal Thymus	thymus
21	chr8:19412200-19415400	Enhancers	Thymus	Thymus
22	chr8:19412400-19414600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:19412400-19418000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr8:19412800-19413600	Enhancers	Fetal Heart	heart
25	chr8:19412800-19415200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:19412800-19416000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr8:19412800-19417000	Enhancers	A549	lung
28	chr8:19413000-19413600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr8:19413000-19413600	Enhancers	Osteobl	bone
30	chr8:19413000-19414200	Enhancers	Fetal Brain Male	brain
31	chr8:19413000-19415200	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:19413000-19415800	Enhancers	Primary T cells from cord blood	blood
33	chr8:19413200-19413600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr8:19413200-19413600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:19413200-19413600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:19413200-19414600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:19413200-19415000	Enhancers	Brain Germinal Matrix	brain
38	chr8:19413200-19415200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:19413200-19415800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr8:19413200-19417800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:19413400-19413800	Enhancers	Brain Angular Gyrus	brain
42	chr8:19413400-19413800	Enhancers	Right Atrium	heart
43	chr8:19413400-19413800	Enhancers	Spleen	Spleen
44	chr8:19413400-19414200	Weak transcription	Brain Anterior Caudate	brain

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