Variant report

Variant	rs11992333
Chromosome Location	chr8:10367809-10367810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10088134	1.00[EUR][1000 genomes]
rs10090747	1.00[AMR][1000 genomes]
rs10092761	1.00[EUR][1000 genomes]
rs10093620	1.00[EUR][1000 genomes]
rs10098744	1.00[EUR][1000 genomes]
rs10098752	1.00[EUR][1000 genomes]
rs10099764	1.00[AMR][1000 genomes]
rs10104007	1.00[AMR][1000 genomes]
rs10104413	1.00[AMR][1000 genomes]
rs10109127	1.00[EUR][1000 genomes]
rs10109945	1.00[AMR][1000 genomes]
rs10156246	1.00[EUR][1000 genomes]
rs10216532	1.00[AMR][1000 genomes]
rs10216827	1.00[AMR][1000 genomes]
rs10903329	1.00[EUR][1000 genomes]
rs11250032	1.00[EUR][1000 genomes]
rs11250041	1.00[EUR][1000 genomes]
rs11250042	1.00[EUR][1000 genomes]
rs11250043	1.00[EUR][1000 genomes]
rs11250044	1.00[EUR][1000 genomes]
rs11250046	1.00[EUR][1000 genomes]
rs11250047	1.00[EUR][1000 genomes]
rs11990633	1.00[EUR][1000 genomes]
rs11995973	1.00[AMR][1000 genomes]
rs12114682	1.00[EUR][1000 genomes]
rs12334572	1.00[EUR][1000 genomes]
rs12549970	1.00[EUR][1000 genomes]
rs12550485	1.00[EUR][1000 genomes]
rs13270972	1.00[EUR][1000 genomes]
rs17384171	1.00[EUR][1000 genomes]
rs28412714	1.00[EUR][1000 genomes]
rs28465197	1.00[EUR][1000 genomes]
rs28534846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28545293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28556735	1.00[AMR][1000 genomes]
rs28564130	1.00[AMR][1000 genomes]
rs28590472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28607769	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28634875	1.00[EUR][1000 genomes]
rs28668680	1.00[EUR][1000 genomes]
rs28716710	1.00[AMR][1000 genomes]
rs4255099	1.00[EUR][1000 genomes]
rs4259384	1.00[EUR][1000 genomes]
rs4330653	1.00[EUR][1000 genomes]
rs4342553	1.00[EUR][1000 genomes]
rs4419779	1.00[EUR][1000 genomes]
rs4590401	1.00[EUR][1000 genomes]
rs4637782	1.00[EUR][1000 genomes]
rs4841388	1.00[EUR][1000 genomes]
rs4841393	1.00[EUR][1000 genomes]
rs55731228	1.00[EUR][1000 genomes]
rs55919609	1.00[EUR][1000 genomes]
rs56074164	1.00[EUR][1000 genomes]
rs56406662	1.00[EUR][1000 genomes]
rs56913988	1.00[EUR][1000 genomes]
rs57438570	1.00[EUR][1000 genomes]
rs57492791	1.00[EUR][1000 genomes]
rs58346791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59657261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73662848	1.00[EUR][1000 genomes]
rs73662856	1.00[EUR][1000 genomes]
rs73662859	1.00[EUR][1000 genomes]
rs73662861	1.00[EUR][1000 genomes]
rs73662862	1.00[EUR][1000 genomes]
rs73662863	1.00[EUR][1000 genomes]
rs73662864	1.00[EUR][1000 genomes]
rs73662865	1.00[EUR][1000 genomes]
rs73662866	1.00[EUR][1000 genomes]
rs73662867	1.00[EUR][1000 genomes]
rs73662870	1.00[EUR][1000 genomes]
rs73662871	1.00[EUR][1000 genomes]
rs73662872	1.00[EUR][1000 genomes]
rs7462362	1.00[EUR][1000 genomes]
rs7462370	1.00[EUR][1000 genomes]
rs7462794	1.00[EUR][1000 genomes]
rs7837411	1.00[EUR][1000 genomes]
rs7840077	1.00[EUR][1000 genomes]
rs9987400	1.00[EUR][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	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1019090	chr8:10303099-10369061	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv1026918	chr8:10359634-10390452	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10356400-10368800	Weak transcription	Brain Germinal Matrix	brain
2	chr8:10361000-10368400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:10367600-10368000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:10367600-10368200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:10367600-10368200	Active TSS	Duodenum Mucosa	Duodenum
6	chr8:10367600-10368200	Active TSS	Osteobl	bone
7	chr8:10367600-10368400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:10367600-10368400	Active TSS	NHDF-Ad	bronchial
9	chr8:10367600-10368400	Active TSS	NHLF	lung
10	chr8:10367600-10368600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:10367600-10368600	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:10367600-10370200	Flanking Active TSS	GM12878-XiMat	blood
13	chr8:10367800-10368000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:10367800-10368000	Enhancers	Brain Hippocampus Middle	brain
15	chr8:10367800-10368000	Bivalent Enhancer	HMEC	breast
16	chr8:10367800-10368200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:10367800-10368200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:10367800-10368200	Active TSS	Primary T cells fromperipheralblood	blood
19	chr8:10367800-10368200	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:10367800-10368200	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:10367800-10368200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:10367800-10368200	Active TSS	Colon Smooth Muscle	Colon
23	chr8:10367800-10368200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:10367800-10368200	Flanking Active TSS	Fetal Lung	lung
25	chr8:10367800-10368400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:10367800-10368400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:10367800-10368400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr8:10367800-10370000	Enhancers	Fetal Kidney	kidney

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