Variant report

Variant	rs2308961
Chromosome Location	chr8:90993817-90993818
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
2	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
3	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
4	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207359	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 41 )
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]
rs13312854	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]
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]
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:4 , 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

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	chr8:90962000-90994400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:90962000-90995000	Weak transcription	Aorta	Aorta
5	chr8:90971000-90994000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:90971200-90994400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:90971800-90995600	Weak transcription	Right Ventricle	heart
8	chr8:90975600-90994000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:90975600-90995800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:90976200-90995800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:90976400-90994400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:90976400-90995400	Weak transcription	Thymus	Thymus
13	chr8:90976400-90995600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:90976400-90995800	Weak transcription	Esophagus	oesophagus
15	chr8:90976600-90994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:90980800-90995600	Weak transcription	Ovary	ovary
17	chr8:90981600-90994800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:90982000-90994200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:90983600-90994000	Weak transcription	NH-A	brain
20	chr8:90983800-90994800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:90983800-90995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:90987000-90994200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:90987000-90996000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:90987200-90994400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:90987200-90996000	Weak transcription	Spleen	Spleen
26	chr8:90989000-90994000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:90989000-90994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:90989000-90995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:90989000-90995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:90989000-90996000	Weak transcription	Gastric	stomach
31	chr8:90989600-90995600	Weak transcription	Left Ventricle	heart
32	chr8:90990200-90995400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:90990200-90995400	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:90990200-90995600	Weak transcription	Lung	lung
35	chr8:90990200-90995800	Weak transcription	Pancreas	Pancrea
36	chr8:90990600-90994200	Weak transcription	Liver	Liver
37	chr8:90990600-90994800	Weak transcription	Fetal Intestine Large	intestine
38	chr8:90991400-90996200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
40	chr8:90991800-90994800	Weak transcription	HMEC	breast
41	chr8:90992200-90994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:90992200-90995600	Weak transcription	Placenta	Placenta
43	chr8:90992400-90994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:90992600-90994400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:90992800-90995400	Weak transcription	Fetal Thymus	thymus
46	chr8:90993000-90994000	Enhancers	Brain Anterior Caudate	brain
47	chr8:90993000-90995200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:90993000-90995400	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:90993000-90996200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:90993200-90994000	Flanking Active TSS	Primary B cells from cord blood	blood

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