Variant report

Variant	rs4375045
Chromosome Location	chr8:1886429-1886430
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	chr8:1876812..1880065-chr8:1886346..1889205,3	K562	blood:
2	chr8:1815516..1817789-chr8:1884960..1887477,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11782584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	14 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv470167	chr8:1746949-1886640	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv465277	chr8:1746950-1888447	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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	9 gene(s)	inside rSNPs	diseases
11	nsv609533	chr8:1746950-1888447	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	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
13	nsv889723	chr8:1756800-1904157	Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv831207	chr8:1803355-1888324	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv889733	chr8:1870992-1904157	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
3	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:1868800-1890400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:1869000-1889400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:1869000-1891800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:1869200-1890200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:1869800-1890400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:1871600-1889000	Strong transcription	H9 Cell Line	embryonic stem cell
10	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:1871800-1887200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:1871800-1889000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr8:1871800-1889400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:1873800-1894800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:1876600-1886600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:1876600-1888200	Strong transcription	Adipose Nuclei	Adipose
17	chr8:1876600-1889000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:1878200-1888400	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:1879200-1890200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:1879400-1888600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr8:1879400-1889000	Strong transcription	Fetal Muscle Leg	muscle
22	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
23	chr8:1881000-1890400	Weak transcription	Fetal Heart	heart
24	chr8:1881000-1890600	Weak transcription	Fetal Kidney	kidney
25	chr8:1881600-1888600	Strong transcription	Fetal Stomach	stomach
26	chr8:1881800-1886600	Strong transcription	Brain Hippocampus Middle	brain
27	chr8:1881800-1887000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:1881800-1888000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:1881800-1888000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:1882000-1887800	Strong transcription	Left Ventricle	heart
31	chr8:1882800-1888800	Weak transcription	Fetal Lung	lung
32	chr8:1883000-1887400	Strong transcription	Lung	lung
33	chr8:1883000-1896200	Weak transcription	NH-A	brain
34	chr8:1883200-1888200	Strong transcription	Right Ventricle	heart
35	chr8:1883400-1886600	Strong transcription	Gastric	stomach
36	chr8:1883400-1886600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:1883600-1888000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr8:1883600-1888200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:1884000-1887000	Weak transcription	Fetal Intestine Large	intestine
40	chr8:1884000-1890600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:1884200-1886600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:1884200-1887200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:1884200-1887400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:1884200-1890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:1884200-1890400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:1884200-1894200	Weak transcription	NHDF-Ad	bronchial
47	chr8:1884200-1897000	Weak transcription	Placenta	Placenta
48	chr8:1884400-1890400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:1884400-1892600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:1884400-1895000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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