Variant report

Variant	rs11992987
Chromosome Location	chr8:42823774-42823775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10453137	0.86[AFR][1000 genomes]
rs11984550	0.87[MKK][hapmap]
rs11987452	0.82[AFR][1000 genomes]
rs11988197	1.00[MKK][hapmap]
rs11988227	0.90[AFR][1000 genomes]
rs11989623	1.00[AMR][1000 genomes]
rs11990369	0.82[LWK][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes]
rs11991133	0.82[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11992397	0.82[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11992660	0.86[AFR][1000 genomes]
rs11992682	0.82[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11993667	0.82[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11993799	1.00[AMR][1000 genomes]
rs11994115	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994318	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11995172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995473	0.86[AFR][1000 genomes]
rs11997992	0.82[LWK][hapmap];0.88[MKK][hapmap];0.88[YRI][hapmap]
rs11998092	1.00[AMR][1000 genomes]
rs2194902	0.88[YRI][hapmap]
rs28718980	1.00[AMR][1000 genomes]
rs28799623	0.86[AFR][1000 genomes]
rs28840077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34489103	0.82[LWK][hapmap];0.83[MKK][hapmap];0.81[AFR][1000 genomes]
rs35327613	1.00[AMR][1000 genomes]
rs35506493	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57071761	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58081556	0.86[AFR][1000 genomes]
rs59213790	0.82[AFR][1000 genomes]
rs59592639	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60133450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60443202	0.84[AFR][1000 genomes]
rs60782941	0.88[AFR][1000 genomes]
rs61093151	1.00[AMR][1000 genomes]
rs61224035	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6651368	1.00[MKK][hapmap]
rs7016659	0.82[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs73627229	0.86[AFR][1000 genomes]
rs73627242	0.86[AFR][1000 genomes]
rs73627249	0.90[AFR][1000 genomes]
rs73627250	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627252	0.86[AFR][1000 genomes]
rs73627273	0.86[AFR][1000 genomes]
rs73627274	0.86[AFR][1000 genomes]
rs73627276	0.86[AFR][1000 genomes]
rs73627278	0.86[AFR][1000 genomes]
rs73627280	0.86[AFR][1000 genomes]
rs73627282	0.86[AFR][1000 genomes]
rs73627294	0.84[AFR][1000 genomes]
rs73629108	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629110	0.82[AFR][1000 genomes]
rs73629198	1.00[AMR][1000 genomes]
rs73631561	1.00[AMR][1000 genomes]
rs73631573	1.00[AMR][1000 genomes]
rs73633750	1.00[AMR][1000 genomes]
rs73633762	1.00[AMR][1000 genomes]
rs73633763	1.00[AMR][1000 genomes]
rs73634623	1.00[AMR][1000 genomes]
rs73634627	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634670	0.89[AFR][1000 genomes]
rs73634673	0.89[AFR][1000 genomes]
rs73634677	0.81[AFR][1000 genomes]
rs73634682	0.89[AFR][1000 genomes]
rs73634696	0.92[AFR][1000 genomes]
rs73635313	0.90[AFR][1000 genomes]
rs73635316	0.83[AFR][1000 genomes]
rs73635325	0.90[AFR][1000 genomes]
rs73635345	0.86[AFR][1000 genomes]
rs73635352	0.86[AFR][1000 genomes]
rs73635357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635362	0.86[AFR][1000 genomes]
rs73635364	0.86[AFR][1000 genomes]
rs73635366	0.86[AFR][1000 genomes]
rs73635368	0.86[AFR][1000 genomes]
rs73635370	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:42795800-42829800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:42802200-42826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:42803800-42824200	Strong transcription	HSMM	muscle
7	chr8:42805400-42829200	Weak transcription	Small Intestine	intestine
8	chr8:42809200-42836800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:42809600-42826400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:42809800-42842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:42810000-42832000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:42810600-42845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:42812200-42825800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:42812600-42825600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:42813200-42834600	Strong transcription	Dnd41	blood
16	chr8:42813200-42845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:42813200-42846000	Weak transcription	Stomach Mucosa	stomach
18	chr8:42813400-42826400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:42813600-42825400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:42813600-42826600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:42813800-42824600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:42813800-42825000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:42813800-42825400	Strong transcription	Fetal Lung	lung
24	chr8:42813800-42828200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr8:42813800-42842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:42813800-42846600	Strong transcription	Placenta	Placenta
27	chr8:42814000-42824800	Strong transcription	Liver	Liver
28	chr8:42814000-42836800	Strong transcription	Fetal Intestine Large	intestine
29	chr8:42814200-42823800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:42814200-42824000	Strong transcription	Brain Germinal Matrix	brain
31	chr8:42814200-42824600	Strong transcription	Fetal Thymus	thymus
32	chr8:42814200-42824800	Strong transcription	Primary T cells from cord blood	blood
33	chr8:42814200-42824800	Strong transcription	HSMMtube	muscle
34	chr8:42814200-42825000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:42814200-42826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:42814200-42835800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:42814200-42840400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:42814400-42825800	Strong transcription	Adipose Nuclei	Adipose
39	chr8:42814400-42845800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:42814400-42846600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:42815200-42845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:42815400-42824800	Strong transcription	Fetal Muscle Leg	muscle
43	chr8:42815600-42835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:42816000-42829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:42816000-42829600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr8:42816000-42837600	Weak transcription	K562	blood
47	chr8:42816200-42846000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr8:42816400-42829400	Weak transcription	Gastric	stomach
49	chr8:42816400-42830400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:42817400-42824800	Strong transcription	GM12878-XiMat	blood

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