Variant report

Variant	rs3115904
Chromosome Location	chr8:94948595-94948596
allele	A/C
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
ENSG00000264448	Chromatin interaction
ENSG00000164951	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs28758779	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3115898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115905	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115906	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115907	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115908	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3115909	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115910	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115912	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115914	0.82[ASN][1000 genomes]
rs3133978	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133979	1.00[EUR][1000 genomes]
rs3133980	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3133983	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133984	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3133985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34468383	0.87[EUR][1000 genomes]
rs57919376	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328810	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58550934	0.96[EUR][1000 genomes]
rs58894594	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59390113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525235	0.96[EUR][1000 genomes]
rs62525237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525241	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723039	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:93 , 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	chr8:94936400-94950800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:94936400-94950800	Weak transcription	Fetal Lung	lung
5	chr8:94936600-94950800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:94936800-94950800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:94940800-94949000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:94945400-94950800	Weak transcription	Lung	lung
9	chr8:94945600-94948800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr8:94946600-94948800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:94946600-94949000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:94946600-94949000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:94946600-94949000	Enhancers	HUVEC	blood vessel
14	chr8:94946800-94949000	Enhancers	NH-A	brain
15	chr8:94947000-94948800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:94947000-94948800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:94947000-94948800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:94947000-94948800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:94947000-94948800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:94947000-94948800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:94947000-94948800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr8:94947000-94948800	Enhancers	HSMM	muscle
23	chr8:94947000-94948800	Enhancers	NHDF-Ad	bronchial
24	chr8:94947000-94948800	Enhancers	NHLF	lung
25	chr8:94947000-94949000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:94947000-94949000	Enhancers	Fetal Heart	heart
27	chr8:94947000-94949000	Enhancers	Psoas Muscle	Psoas
28	chr8:94947000-94949000	Enhancers	GM12878-XiMat	blood
29	chr8:94947000-94949000	Enhancers	Hela-S3	cervix
30	chr8:94947200-94948600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:94947200-94948800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:94947200-94948800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:94947200-94948800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:94947200-94948800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:94947200-94948800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr8:94947200-94949000	Enhancers	Fetal Intestine Large	intestine
37	chr8:94947200-94949000	Enhancers	Fetal Intestine Small	intestine
38	chr8:94947200-94949000	Enhancers	Stomach Mucosa	stomach
39	chr8:94947400-94948800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:94947400-94948800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:94947400-94948800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:94947400-94948800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:94947400-94948800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:94947400-94948800	Enhancers	Dnd41	blood
45	chr8:94947400-94948800	Enhancers	HSMMtube	muscle
46	chr8:94947600-94948600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:94947600-94948600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:94947600-94948600	Weak transcription	Pancreas	Pancrea
49	chr8:94947600-94948800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:94947600-94948800	Enhancers	Primary T helper cells fromperipheralblood	blood

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