Variant report

Variant	rs13312854
Chromosome Location	chr8:90994817-90994818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr8:90994775-90994956	MCF10A-Er-Src	breast:	n/a	chr8:90994912-90994923
2	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:90993336-90997456	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr8:90994728-90994926	MCF10A-Er-Src	breast:	n/a	chr8:90994912-90994923
5	POLR2A	chr8:90994387-90995097	GM12878	blood:	n/a	n/a
6	MXI1	chr8:90993378-90997577	SK-N-SH	brain:	n/a	n/a
7	STAT3	chr8:90994784-90994941	MCF10A-Er-Src	breast:	n/a	chr8:90994912-90994923
8	POLR2A	chr8:90993266-90997261	GM18505	blood:	n/a	n/a
9	EBF1	chr8:90993028-90995036	GM12878	blood:	n/a	chr8:90994136-90994149
10	CHD1	chr8:90993030-90995111	GM12878	blood:	n/a	n/a
11	MAFK	chr8:90994504-90994817	HepG2	liver:	n/a	n/a
12	IRF1	chr8:90994815-90997167	K562	blood:	n/a	chr8:90996293-90996306 chr8:90996288-90996302 chr8:90996293-90996306 chr8:90996292-90996306 chr8:90996295-90996309 chr8:90996295-90996305 chr8:90996291-90996305 chr8:90996294-90996306 chr8:90996276-90996296 chr8:90996294-90996306 chr8:90996295-90996306 chr8:90996293-90996306 chr8:90996287-90996307 chr8:90996296-90996307 chr8:90996289-90996310

No.	Distal block	Cell Line	Cell type
1	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
2	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
3	chr8:90953083..90955250-chr8:90994003..90995794,2	K562	blood:
4	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
5	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
6	chr8:90889480..90891758-chr8:90994219..90995933,2	MCF-7	breast:
7	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
8	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
9	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
10	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13312836	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312860	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312862	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312863	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312864	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312891	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16900593	1.00[MEX][hapmap]
rs16900617	1.00[MEX][hapmap]
rs1805884	1.00[MEX][hapmap]
rs2308961	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55663774	1.00[AMR][1000 genomes]
rs55683922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55978729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56190114	1.00[AMR][1000 genomes]
rs58089706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59899647	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61365155	1.00[AMR][1000 genomes]
rs6987476	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694306	1.00[AMR][1000 genomes]
rs73694307	1.00[AMR][1000 genomes]
rs73694313	1.00[AMR][1000 genomes]
rs73694316	1.00[AMR][1000 genomes]
rs73696843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696853	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73696854	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs769417	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7813347	1.00[MEX][hapmap]
rs7823648	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823987	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9969533	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	esv2752578	chr8:90990091-90995971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3372098	chr8:90994703-90994947	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90915800-90995000	Weak transcription	Fetal Brain Male	brain
2	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:90962000-90995000	Weak transcription	Aorta	Aorta
4	chr8:90971800-90995600	Weak transcription	Right Ventricle	heart
5	chr8:90975600-90995800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:90976200-90995800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:90976400-90995400	Weak transcription	Thymus	Thymus
8	chr8:90976400-90995600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:90976400-90995800	Weak transcription	Esophagus	oesophagus
10	chr8:90980800-90995600	Weak transcription	Ovary	ovary
11	chr8:90983800-90995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:90987000-90996000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:90987200-90996000	Weak transcription	Spleen	Spleen
14	chr8:90989000-90995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:90989000-90995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:90989000-90996000	Weak transcription	Gastric	stomach
17	chr8:90989600-90995600	Weak transcription	Left Ventricle	heart
18	chr8:90990200-90995400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:90990200-90995400	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:90990200-90995600	Weak transcription	Lung	lung
21	chr8:90990200-90995800	Weak transcription	Pancreas	Pancrea
22	chr8:90991400-90996200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
24	chr8:90992200-90995600	Weak transcription	Placenta	Placenta
25	chr8:90992800-90995400	Weak transcription	Fetal Thymus	thymus
26	chr8:90993000-90995200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:90993000-90995400	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:90993000-90996200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:90993200-90995000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr8:90993200-90995600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:90993200-90995800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:90993200-90995800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:90993400-90995200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:90993400-90995400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr8:90993400-90995400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:90993400-90995400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:90993600-90995200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:90993600-90995400	Enhancers	Brain Hippocampus Middle	brain
41	chr8:90993600-90997000	Active TSS	Colon Smooth Muscle	Colon
42	chr8:90993800-90995000	Enhancers	Fetal Lung	lung
43	chr8:90993800-90995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:90993800-90995200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:90993800-90995200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:90993800-90995200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:90993800-90995200	Enhancers	Fetal Intestine Small	intestine
48	chr8:90993800-90995200	Enhancers	Fetal Kidney	kidney
49	chr8:90993800-90995200	Flanking Active TSS	Hela-S3	cervix
50	chr8:90993800-90995400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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