Variant report

Variant	rs60260705
Chromosome Location	chr8:1906054-1906055
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1904438..1906943-chr8:1908364..1910920,2	K562	blood:
2	chr8:1887349..1889723-chr8:1904508..1906219,2	K562	blood:
3	chr8:1900404..1902135-chr8:1904270..1906707,2	K562	blood:
4	chr8:1905928..1907788-chr8:1909949..1911807,2	MCF-7	breast:
5	chr8:1876158..1879042-chr8:1903928..1907345,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11986753	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv889732	chr8:1870956-1906630	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv889734	chr8:1870992-1906630	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv889735	chr8:1892069-1907855	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv889739	chr8:1898547-1918352	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv609555	chr8:1904157-1913134	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
4	chr8:1884600-1906200	Weak transcription	A549	lung
5	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
7	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:1895600-1906200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:1895600-1907000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:1897600-1906200	Weak transcription	NH-A	brain
13	chr8:1898400-1908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:1900200-1909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:1901000-1906200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:1901000-1906200	Weak transcription	Right Ventricle	heart
17	chr8:1901000-1906600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:1901600-1906600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:1901600-1907000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:1902200-1906200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:1902200-1907600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:1902200-1907600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:1902400-1906600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr8:1902400-1907200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:1902800-1906400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:1903600-1906800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr8:1903600-1906800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:1903600-1908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:1903600-1908400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:1903600-1909400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:1904000-1908000	Weak transcription	NHEK	skin
32	chr8:1904400-1907600	Weak transcription	Fetal Thymus	thymus
33	chr8:1904400-1908000	Strong transcription	Dnd41	blood
34	chr8:1904600-1906200	Enhancers	Fetal Lung	lung
35	chr8:1904600-1906600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:1904600-1906600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:1904800-1906400	Strong transcription	Thymus	Thymus
38	chr8:1904800-1906600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:1904800-1906600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:1904800-1906600	Enhancers	Fetal Brain Female	brain
41	chr8:1904800-1906800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr8:1904800-1907000	Enhancers	Fetal Brain Male	brain
43	chr8:1905000-1909600	Enhancers	Liver	Liver
44	chr8:1905200-1906200	Weak transcription	Pancreas	Pancrea
45	chr8:1905200-1906200	Enhancers	NHDF-Ad	bronchial
46	chr8:1905200-1906400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr8:1905200-1908800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:1905400-1906200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:1905400-1906200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:1905400-1906200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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