Variant report

Variant	rs11995188
Chromosome Location	chr8:10820017-10820018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10811750..10814627-chr8:10819721..10822021,2	K562	blood:
2	chr8:10787098..10789727-chr8:10819770..10822042,2	K562	blood:
3	chr8:10811750..10814627-chr8:10819721..10822751,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10086171	1.00[CHB][hapmap]
rs10086778	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10086872	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10087376	0.91[ASN][1000 genomes]
rs10087882	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10094007	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10094337	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094684	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10095039	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10095261	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10095390	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10096624	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10096634	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096872	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10097626	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10098549	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10101503	0.91[ASN][1000 genomes]
rs10102369	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10106574	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10107105	0.81[EUR][1000 genomes]
rs10107544	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10107591	0.90[ASN][1000 genomes]
rs10107658	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10111178	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112255	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10903334	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11250096	0.90[ASN][1000 genomes]
rs11250100	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11783935	0.91[ASN][1000 genomes]
rs11985330	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990141	0.82[AMR][1000 genomes]
rs11996961	0.90[ASN][1000 genomes]
rs28491220	0.96[AFR][1000 genomes]
rs28542689	0.90[ASN][1000 genomes]
rs28546463	0.90[ASN][1000 genomes]
rs4265148	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4314618	1.00[JPT][hapmap]
rs4434585	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4623374	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4626559	1.00[JPT][hapmap]
rs4645525	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4840527	0.90[ASN][1000 genomes]
rs55958006	0.90[ASN][1000 genomes]
rs56048959	0.91[ASN][1000 genomes]
rs57698321	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6601540	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6982751	0.90[ASN][1000 genomes]
rs6982927	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7006612	0.90[ASN][1000 genomes]
rs7008460	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73537380	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7816172	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv521721	chr8:10802102-10836472	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10815000-10820800	Enhancers	Fetal Muscle Leg	muscle
2	chr8:10818200-10820200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr8:10818400-10822200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:10818800-10822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:10819000-10822200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:10819000-10822200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10819000-10822800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:10819400-10822200	Weak transcription	Fetal Brain Male	brain
9	chr8:10819400-10822200	Weak transcription	Fetal Brain Female	brain
10	chr8:10819400-10822400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:10819400-10822800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:10819600-10823000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:10819800-10823000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:10820000-10822000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:10820000-10822600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:10820000-10822600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:10820000-10822600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:10820000-10822600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:10820000-10822600	Weak transcription	Brain Anterior Caudate	brain
20	chr8:10820000-10822800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr8:10820000-10822800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:10820000-10822800	Weak transcription	GM12878-XiMat	blood

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