Variant report

Variant	rs3942966
Chromosome Location	chr8:104089644-104089645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104083655..104086028-chr8:104086972..104089914,2	MCF-7	breast:
2	chr8:104087192..104090811-chr8:104308790..104311977,3	MCF-7	breast:
3	chr8:104088225..104090589-chr8:104426993..104428742,2	MCF-7	breast:
4	chr8:104087016..104090953-chr8:104310983..104313064,3	MCF-7	breast:
5	chr8:103875020..103877566-chr8:104088443..104090711,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164930	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000164933	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1018088	0.81[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1497448	0.80[AMR][1000 genomes]
rs1566159	0.83[CHD][hapmap];0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs2047375	0.92[ASW][hapmap];0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.88[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515206	0.86[CHD][hapmap];0.85[JPT][hapmap]
rs4734069	0.85[CEU][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.88[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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104066800-104091200	Weak transcription	Stomach Mucosa	stomach
2	chr8:104069800-104090800	Weak transcription	Aorta	Aorta
3	chr8:104080400-104091200	Weak transcription	Small Intestine	intestine
4	chr8:104081200-104089800	Weak transcription	Left Ventricle	heart
5	chr8:104081200-104091000	Weak transcription	Ovary	ovary
6	chr8:104082600-104090000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:104082600-104090200	Weak transcription	HMEC	breast
8	chr8:104083200-104090200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:104083200-104090600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:104083400-104090200	Weak transcription	HSMM	muscle
11	chr8:104083600-104093000	Weak transcription	Placenta	Placenta
12	chr8:104084000-104090000	Weak transcription	Gastric	stomach
13	chr8:104084000-104090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:104084200-104090400	Weak transcription	Fetal Stomach	stomach
15	chr8:104084200-104090800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:104084200-104090800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:104084200-104091000	Weak transcription	Thymus	Thymus
18	chr8:104084400-104090200	Weak transcription	Fetal Thymus	thymus
19	chr8:104086200-104090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:104086600-104090400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:104086800-104090000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:104086800-104090200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:104086800-104090200	Weak transcription	NHEK	skin
24	chr8:104086800-104091000	Weak transcription	Fetal Brain Male	brain
25	chr8:104087600-104093200	Weak transcription	Brain Germinal Matrix	brain
26	chr8:104087800-104090000	Enhancers	GM12878-XiMat	blood
27	chr8:104088000-104090600	Enhancers	Right Atrium	heart
28	chr8:104088000-104090800	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:104088200-104090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:104088200-104090600	Enhancers	HUVEC	blood vessel
31	chr8:104088200-104091200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:104088400-104089800	Enhancers	HSMMtube	muscle
33	chr8:104088400-104090200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:104088400-104090400	Enhancers	Fetal Muscle Leg	muscle
35	chr8:104088400-104091600	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:104088600-104089800	Weak transcription	Spleen	Spleen
37	chr8:104088600-104091000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:104088600-104092000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:104088800-104089800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:104088800-104089800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:104088800-104089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:104088800-104089800	Weak transcription	Right Ventricle	heart
43	chr8:104088800-104090800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:104089000-104089800	Enhancers	NHLF	lung
45	chr8:104089000-104090400	Enhancers	Adipose Nuclei	Adipose
46	chr8:104089000-104091600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr8:104089200-104090000	Weak transcription	NHDF-Ad	bronchial
48	chr8:104089200-104090400	Bivalent Enhancer	Fetal Lung	lung
49	chr8:104089200-104090400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr8:104089200-104090400	Weak transcription	Osteobl	bone

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