Variant report

Variant	rs979672
Chromosome Location	chr8:104117511-104117512
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:104116308..104117555-chr8:104219520..104220293,3	MCF-7	breast:
2	chr8:104110536..104112989-chr8:104114800..104117513,2	MCF-7	breast:
3	chr8:104117433..104118172-chr9:117001760..117002366,2	MCF-7	breast:
4	chr8:104116094..104117635-chr8:104276900..104277894,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2388492	0.87[ASN][1000 genomes]
rs2454015	0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2454018	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454020	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2454021	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2454023	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454025	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454026	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515172	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2515212	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3019170	0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs979670	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv891247	chr8:104090979-104121862	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104092400-104121600	Weak transcription	Right Atrium	heart
2	chr8:104116000-104118600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:104116000-104119200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:104116400-104118200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:104116600-104118000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:104116600-104118000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:104116600-104118000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:104116600-104118200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:104116600-104118200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:104116600-104118600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:104116600-104118800	Enhancers	NHDF-Ad	bronchial
12	chr8:104116600-104119000	Enhancers	Brain Substantia Nigra	brain
13	chr8:104116800-104117600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:104116800-104117600	Flanking Active TSS	NH-A	brain
15	chr8:104116800-104117800	Enhancers	HSMM	muscle
16	chr8:104116800-104118000	Enhancers	HMEC	breast
17	chr8:104116800-104118600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:104116800-104118600	Enhancers	Brain Germinal Matrix	brain
19	chr8:104116800-104118600	Enhancers	Left Ventricle	heart
20	chr8:104116800-104119000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:104116800-104119000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:104116800-104119000	Enhancers	NHLF	lung
23	chr8:104116800-104119200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:104116800-104119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:104116800-104119800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:104116800-104123400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:104116800-104124200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr8:104117000-104117600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:104117000-104117600	Enhancers	Fetal Stomach	stomach
30	chr8:104117000-104117800	Enhancers	Adipose Nuclei	Adipose
31	chr8:104117000-104118000	Weak transcription	Fetal Brain Female	brain
32	chr8:104117000-104118200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:104117000-104118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr8:104117000-104119000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:104117000-104119000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:104117000-104124200	Enhancers	Brain Angular Gyrus	brain
37	chr8:104117200-104117600	Enhancers	Fetal Muscle Leg	muscle
38	chr8:104117200-104117600	Enhancers	HSMMtube	muscle
39	chr8:104117200-104117600	Flanking Active TSS	Osteobl	bone
40	chr8:104117200-104117800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:104117200-104117800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:104117200-104117800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr8:104117200-104117800	Enhancers	NHEK	skin
44	chr8:104117200-104119400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:104117200-104121000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:104117400-104117600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr8:104117400-104117600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr8:104117400-104117600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr8:104117400-104117800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr8:104117400-104117800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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