Variant report

Variant	rs11781272
Chromosome Location	chr8:131066848-131066849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131057701..131060248-chr8:131066752..131069472,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10106205	1.00[EUR][1000 genomes]
rs11774067	1.00[AFR][1000 genomes]
rs11774131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11774686	1.00[AFR][1000 genomes]
rs11774834	1.00[AFR][1000 genomes]
rs11774917	1.00[AFR][1000 genomes]
rs11775609	1.00[AFR][1000 genomes]
rs11775966	1.00[AFR][1000 genomes]
rs11776863	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11778252	1.00[AFR][1000 genomes]
rs11778454	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11778460	1.00[AFR][1000 genomes]
rs11779191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11781294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11781851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11781912	1.00[AFR][1000 genomes]
rs11782152	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11782883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11783071	1.00[AFR][1000 genomes]
rs11783860	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11783940	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11785286	1.00[AFR][1000 genomes]
rs11787251	1.00[AFR][1000 genomes]
rs11787505	1.00[AFR][1000 genomes]
rs28380096	0.89[EUR][1000 genomes]
rs28759724	1.00[EUR][1000 genomes]
rs4319146	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4639572	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6989965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6991549	1.00[AFR][1000 genomes]
rs7003568	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7006802	1.00[AFR][1000 genomes]
rs7008180	0.90[EUR][1000 genomes]
rs72720387	1.00[AFR][1000 genomes]
rs72720390	1.00[AFR][1000 genomes]
rs72722303	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72722316	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722323	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72722325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72722339	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72722344	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722347	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722349	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72722355	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72722360	1.00[AFR][1000 genomes]
rs72722361	1.00[AFR][1000 genomes]
rs72722368	1.00[AFR][1000 genomes]
rs72722370	1.00[AFR][1000 genomes]
rs72722372	1.00[AFR][1000 genomes]
rs72722374	1.00[AFR][1000 genomes]
rs72722375	1.00[AFR][1000 genomes]
rs72722379	1.00[AFR][1000 genomes]
rs72722380	1.00[AFR][1000 genomes]
rs72722381	1.00[AFR][1000 genomes]
rs72722384	1.00[AFR][1000 genomes]
rs72722386	1.00[AFR][1000 genomes]
rs72722388	1.00[AFR][1000 genomes]
rs72722392	1.00[AFR][1000 genomes]
rs72722394	1.00[AFR][1000 genomes]
rs72722396	1.00[AFR][1000 genomes]
rs72722397	1.00[AFR][1000 genomes]
rs72722399	1.00[AFR][1000 genomes]
rs72724403	1.00[AFR][1000 genomes]
rs72724407	1.00[AFR][1000 genomes]
rs752716	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	esv1799633	chr8:131039142-131078918	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
12	esv1851852	chr8:131039142-131078918	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
13	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
14	nsv612259	chr8:131061371-131066848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	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	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131058400-131073800	Weak transcription	Stomach Mucosa	stomach
3	chr8:131058600-131068000	Weak transcription	Colonic Mucosa	Colon
4	chr8:131058800-131068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:131058800-131068600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:131058800-131068800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:131058800-131074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:131059200-131067200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:131059200-131068600	Weak transcription	GM12878-XiMat	blood
10	chr8:131061200-131074600	Weak transcription	Psoas Muscle	Psoas
11	chr8:131062400-131070200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:131062600-131070800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:131062600-131070800	Strong transcription	Spleen	Spleen
15	chr8:131062600-131072800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:131062600-131073200	Strong transcription	HUVEC	blood vessel
17	chr8:131062600-131073200	Strong transcription	NHLF	lung
18	chr8:131062600-131073400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:131062600-131073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr8:131062600-131074800	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:131062800-131070000	Strong transcription	Placenta	Placenta
23	chr8:131062800-131073400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:131062800-131073600	Strong transcription	Osteobl	bone
25	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr8:131063000-131073400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:131063000-131073600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:131063000-131073600	Strong transcription	A549	lung
29	chr8:131063000-131074000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:131063200-131073400	Strong transcription	NH-A	brain
31	chr8:131063400-131070600	Strong transcription	Thymus	Thymus
32	chr8:131063400-131072800	Strong transcription	NHDF-Ad	bronchial
33	chr8:131063400-131073000	Strong transcription	Primary B cells from cord blood	blood
34	chr8:131063400-131073000	Strong transcription	Primary T cells from cord blood	blood
35	chr8:131063600-131071400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:131063600-131073000	Strong transcription	Liver	Liver
37	chr8:131063600-131073400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:131063600-131073400	Strong transcription	Left Ventricle	heart
39	chr8:131063600-131073400	Strong transcription	Lung	lung
40	chr8:131063600-131074000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131063800-131073000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:131063800-131073400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr8:131063800-131073400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:131063800-131074200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:131064000-131068000	Weak transcription	Fetal Heart	heart
47	chr8:131064200-131068200	Weak transcription	Fetal Brain Male	brain
48	chr8:131064200-131073200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:131064200-131074600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:131064200-131075000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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