Variant report

Variant	rs3133980
Chromosome Location	chr8:94948378-94948379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94927949..94930456-chr8:94947123..94950330,3	MCF-7	breast:
2	chr8:94742250..94744234-chr8:94947941..94950092,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164951	Chromatin interaction
ENSG00000264448	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28758779	0.87[EUR][1000 genomes]
rs3115898	1.00[EUR][1000 genomes]
rs3115904	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3115905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3115906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3115907	1.00[EUR][1000 genomes]
rs3115908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115909	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3115910	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3115912	1.00[EUR][1000 genomes]
rs3133978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3133979	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3133984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs34468383	0.87[EUR][1000 genomes]
rs57919376	0.96[EUR][1000 genomes]
rs58328810	0.96[EUR][1000 genomes]
rs58550934	0.96[EUR][1000 genomes]
rs58894594	0.83[EUR][1000 genomes]
rs59390113	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62525235	0.96[EUR][1000 genomes]
rs62525237	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62525238	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62525240	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62525241	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs723039	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94935800-94950800	Weak transcription	Placenta	Placenta
2	chr8:94936200-94950800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:94936400-94948400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:94936400-94950800	Weak transcription	Brain Angular Gyrus	brain
5	chr8:94936400-94950800	Weak transcription	Fetal Lung	lung
6	chr8:94936600-94950800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:94936800-94950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:94940800-94949000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:94945400-94950800	Weak transcription	Lung	lung
10	chr8:94945600-94948800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:94946600-94948800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:94946600-94949000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:94946600-94949000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:94946600-94949000	Enhancers	HUVEC	blood vessel
15	chr8:94946800-94949000	Enhancers	NH-A	brain
16	chr8:94947000-94948400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:94947000-94948800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:94947000-94948800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:94947000-94948800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:94947000-94948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:94947000-94948800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:94947000-94948800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:94947000-94948800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr8:94947000-94948800	Enhancers	HSMM	muscle
25	chr8:94947000-94948800	Enhancers	NHDF-Ad	bronchial
26	chr8:94947000-94948800	Enhancers	NHLF	lung
27	chr8:94947000-94949000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr8:94947000-94949000	Enhancers	Fetal Heart	heart
29	chr8:94947000-94949000	Enhancers	Psoas Muscle	Psoas
30	chr8:94947000-94949000	Enhancers	GM12878-XiMat	blood
31	chr8:94947000-94949000	Enhancers	Hela-S3	cervix
32	chr8:94947200-94948400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:94947200-94948600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:94947200-94948800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:94947200-94948800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:94947200-94948800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:94947200-94948800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:94947200-94948800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr8:94947200-94949000	Enhancers	Fetal Intestine Large	intestine
40	chr8:94947200-94949000	Enhancers	Fetal Intestine Small	intestine
41	chr8:94947200-94949000	Enhancers	Stomach Mucosa	stomach
42	chr8:94947400-94948400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:94947400-94948800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:94947400-94948800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:94947400-94948800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:94947400-94948800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:94947400-94948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:94947400-94948800	Enhancers	Dnd41	blood
49	chr8:94947400-94948800	Enhancers	HSMMtube	muscle
50	chr8:94947600-94948400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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