Variant report

Variant	rs2002029
Chromosome Location	chr8:11276348-11276349
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2001707	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2001708	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995080	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11269400-11287400	Weak transcription	Right Atrium	heart
2	chr8:11269800-11279800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:11270000-11279200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:11271600-11291000	Weak transcription	Pancreas	Pancrea
5	chr8:11273000-11286800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:11273000-11287000	Weak transcription	NHEK	skin
7	chr8:11273200-11278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:11273200-11279200	Weak transcription	HSMM	muscle
9	chr8:11273800-11276400	Enhancers	Thymus	Thymus
10	chr8:11274000-11281600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:11274200-11276600	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:11274200-11276600	Enhancers	Gastric	stomach
13	chr8:11274400-11276800	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:11274400-11277000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:11274600-11276600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:11274600-11276600	Enhancers	Brain Substantia Nigra	brain
17	chr8:11274600-11279800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:11274600-11281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:11274800-11276400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr8:11275000-11276600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr8:11275200-11276400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:11275200-11276400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr8:11275400-11276600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:11275400-11276600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:11275400-11276600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:11275400-11276600	Bivalent Enhancer	Dnd41	blood
27	chr8:11275600-11276400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr8:11275600-11282200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:11275800-11276800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:11275800-11278200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:11275800-11280400	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:11275800-11280600	Enhancers	Primary B cells from cord blood	blood
33	chr8:11275800-11281400	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:11276000-11276600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:11276000-11276800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr8:11276000-11276800	Enhancers	Fetal Thymus	thymus
37	chr8:11276200-11276800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:11276200-11279000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:11276200-11279000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:11276200-11279000	Weak transcription	Osteobl	bone
41	chr8:11276200-11279200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:11276200-11279400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr8:11276200-11279400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:11276200-11279400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr8:11276200-11280200	Weak transcription	Spleen	Spleen
46	chr8:11276200-11280600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:11276200-11280600	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links