Variant report

Variant	rs11988116
Chromosome Location	chr8:9945126-9945127
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	FOSL1	chr8:9944391-9945302	HCT-116	colon:	n/a	chr8:9944761-9944769 chr8:9944760-9944769 chr8:9944759-9944771 chr8:9944761-9944768 chr8:9944760-9944770
2	CBX3	chr8:9944287-9945283	HCT-116	colon:	n/a	n/a
3	FOS	chr8:9944532-9945350	MCF10A-Er-Src	breast:	n/a	chr8:9944761-9944769 chr8:9944760-9944769 chr8:9944759-9944771 chr8:9944761-9944768 chr8:9944760-9944770
4	SP1	chr8:9944369-9945196	HCT-116	colon:	n/a	n/a
5	JUND	chr8:9944345-9945189	HCT-116	colon:	n/a	chr8:9944759-9944770 chr8:9944761-9944769 chr8:9944760-9944769 chr8:9944759-9944771 chr8:9944761-9944768 chr8:9944760-9944770
6	MYC	chr8:9944617-9945229	MCF10A-Er-Src	breast:	n/a	chr8:9944760-9944769 chr8:9944761-9944770
7	MXI1	chr8:9944442-9945275	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000221320	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10092905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10097035	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10101206	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11985767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11988049	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11989502	1.00[AMR][1000 genomes]
rs11994045	1.00[AMR][1000 genomes]
rs11996848	1.00[AMR][1000 genomes]
rs11998467	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs1385255	1.00[ASN][1000 genomes]
rs17689007	1.00[JPT][hapmap]
rs17689037	1.00[JPT][hapmap]
rs17689289	1.00[JPT][hapmap]
rs28514398	0.87[ASN][1000 genomes]
rs28608061	1.00[ASN][1000 genomes]
rs28631074	1.00[ASN][1000 genomes]
rs28695225	1.00[ASN][1000 genomes]
rs3885723	1.00[JPT][hapmap]
rs3989134	1.00[AMR][1000 genomes]
rs487816	1.00[AMR][1000 genomes]
rs541362	1.00[AMR][1000 genomes]
rs57611211	1.00[ASN][1000 genomes]
rs59732058	0.87[ASN][1000 genomes]
rs59899904	0.87[ASN][1000 genomes]
rs59910149	1.00[ASN][1000 genomes]
rs60066541	0.87[ASN][1000 genomes]
rs61055969	1.00[AMR][1000 genomes]
rs61591817	0.87[ASN][1000 genomes]
rs658620	1.00[AMR][1000 genomes]
rs6995352	1.00[AMR][1000 genomes]
rs73526802	1.00[AMR][1000 genomes]
rs73528908	1.00[ASN][1000 genomes]
rs73528929	1.00[ASN][1000 genomes]
rs73528930	1.00[ASN][1000 genomes]
rs73528933	1.00[ASN][1000 genomes]
rs73528936	1.00[ASN][1000 genomes]
rs73528940	1.00[ASN][1000 genomes]
rs73528945	1.00[ASN][1000 genomes]
rs73528959	0.87[ASN][1000 genomes]
rs73528960	0.87[ASN][1000 genomes]
rs73528963	0.87[ASN][1000 genomes]
rs73528974	0.87[ASN][1000 genomes]
rs73530926	1.00[ASN][1000 genomes]
rs73530934	1.00[ASN][1000 genomes]
rs73530948	0.87[ASN][1000 genomes]
rs7821075	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs814416	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861497	1.00[ASN][1000 genomes]
rs9693546	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
2	chr8:9929600-9947200	Weak transcription	Aorta	Aorta
3	chr8:9940000-9949400	Weak transcription	Spleen	Spleen
4	chr8:9940200-9948600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:9941600-9947200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:9942000-9947200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:9943800-9945800	Enhancers	HMEC	breast
8	chr8:9944200-9945200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:9944200-9945200	Enhancers	NH-A	brain
10	chr8:9944200-9945800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:9944200-9947800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:9944400-9945200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:9944400-9945200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:9944400-9945200	Enhancers	HUVEC	blood vessel
15	chr8:9944400-9945800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:9944400-9945800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr8:9944400-9945800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:9944600-9945200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:9944600-9945200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:9944600-9945200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:9944600-9945400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:9944600-9945800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:9944800-9945200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:9944800-9945200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:9944800-9945200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:9944800-9945200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr8:9944800-9945200	Enhancers	Hela-S3	cervix
28	chr8:9944800-9945200	Flanking Active TSS	NHEK	skin
29	chr8:9944800-9945600	Enhancers	Primary B cells from cord blood	blood
30	chr8:9944800-9945800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:9944800-9946200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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