Variant report

Variant	rs11990633
Chromosome Location	chr8:10421142-10421143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10088134	1.00[EUR][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]
rs10109127	1.00[EUR][1000 genomes]
rs10156246	1.00[EUR][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]
rs11992333	1.00[EUR][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[EUR][1000 genomes]
rs28545293	1.00[EUR][1000 genomes]
rs28590472	1.00[EUR][1000 genomes]
rs28607769	1.00[EUR][1000 genomes]
rs28634875	1.00[EUR][1000 genomes]
rs28668680	1.00[EUR][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	1.00[EUR][1000 genomes]
rs59657261	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	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
8	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
9	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
10	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
11	nsv610269	chr8:10416017-10461484	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv465462	chr8:10418039-10444137	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv610270	chr8:10418039-10444137	Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10404800-10422000	Weak transcription	Right Atrium	heart
2	chr8:10415200-10423200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:10419800-10422000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:10419800-10422200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:10419800-10422400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:10420000-10421800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr8:10420000-10422400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:10420200-10422200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:10420200-10422400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:10420400-10422000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:10420400-10422400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:10420400-10422400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:10420400-10423000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:10420600-10421200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:10420600-10421800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:10420800-10421200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:10420800-10422000	Enhancers	Left Ventricle	heart
18	chr8:10420800-10422200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:10420800-10422200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10420800-10422200	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr8:10420800-10422200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr8:10420800-10423200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:10420800-10424600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr8:10421000-10421200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:10421000-10421200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr8:10421000-10421200	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr8:10421000-10421800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:10421000-10421800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:10421000-10421800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr8:10421000-10422000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr8:10421000-10422000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:10421000-10422000	Enhancers	Fetal Brain Male	brain
33	chr8:10421000-10422200	Enhancers	Brain Germinal Matrix	brain
34	chr8:10421000-10422200	Enhancers	Right Ventricle	heart
35	chr8:10421000-10422400	Enhancers	Lung	lung

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