Variant report

Variant	rs2978420
Chromosome Location	chr8:103340476-103340477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103339200..103341368-chr8:103346324..103348716,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10090707	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10156286	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10283189	0.95[ASN][1000 genomes]
rs2978421	0.95[ASN][1000 genomes]
rs3018537	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
2	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
4	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
5	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:103326000-103354000	Weak transcription	Lung	lung
7	chr8:103330000-103346400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:103330000-103375200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:103335000-103345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:103335200-103345400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:103335400-103340600	Strong transcription	HepG2	liver
12	chr8:103335400-103341200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:103335400-103341200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:103335400-103341400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:103335400-103341400	Strong transcription	Left Ventricle	heart
16	chr8:103335400-103341600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:103335400-103341600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:103335400-103341600	Strong transcription	NH-A	brain
19	chr8:103335400-103342000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:103335400-103342200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:103335400-103342400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:103335400-103342600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:103335400-103342800	Strong transcription	Liver	Liver
24	chr8:103335400-103343200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:103335400-103343200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:103335400-103343200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:103335400-103343400	Strong transcription	HSMM	muscle
28	chr8:103335400-103343600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:103335400-103343600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:103335400-103343800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:103335400-103343800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:103335400-103343800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:103335400-103344400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:103335400-103344600	Strong transcription	Fetal Intestine Large	intestine
35	chr8:103335400-103344800	Strong transcription	Placenta	Placenta
36	chr8:103335400-103345000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:103335400-103345000	Strong transcription	Fetal Muscle Leg	muscle
38	chr8:103335400-103345200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:103335400-103345200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:103335400-103345200	Strong transcription	Adipose Nuclei	Adipose
41	chr8:103335400-103345200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr8:103335400-103345400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr8:103335400-103345400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:103335400-103346400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr8:103335400-103346600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:103335400-103346600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:103335400-103347000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:103335400-103351200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr8:103335400-103355000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:103335400-103360000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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