Variant report

Variant	rs13255875
Chromosome Location	chr8:1864452-1864453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13257120	0.81[EUR][1000 genomes]
rs13257421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35177181	0.84[AMR][1000 genomes]
rs36033774	0.84[AMR][1000 genomes]
rs60529472	0.84[AMR][1000 genomes]
rs61188033	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv1025444	chr8:1743663-1864809	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription 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	7 gene(s)	inside rSNPs	diseases
10	nsv539299	chr8:1743663-1864809	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	nsv1017597	chr8:1748941-1865887	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	nsv889730	chr8:1821516-1883352	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv1017511	chr8:1840497-1865887	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1824400-1864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:1840800-1865400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:1841000-1877600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:1843400-1866400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:1844800-1865400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:1845400-1879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
8	chr8:1845600-1866400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:1845600-1867000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:1845600-1867200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:1846000-1864800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:1846200-1866400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:1847600-1867000	Weak transcription	Hela-S3	cervix
14	chr8:1851600-1866400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:1854200-1872000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:1856200-1866800	Weak transcription	NH-A	brain
17	chr8:1857000-1866400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:1857000-1890600	Weak transcription	Psoas Muscle	Psoas
19	chr8:1858000-1864800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:1858200-1865400	Weak transcription	Brain Germinal Matrix	brain
21	chr8:1858200-1865400	Weak transcription	Fetal Brain Female	brain
22	chr8:1858200-1872000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:1858400-1870200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:1858400-1872800	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:1858400-1873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:1858600-1866800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:1859400-1865000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:1859600-1865800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:1859600-1866800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:1859600-1867800	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr8:1859800-1865200	Strong transcription	A549	lung
32	chr8:1859800-1871800	Weak transcription	Osteobl	bone
33	chr8:1860200-1867000	Weak transcription	NHDF-Ad	bronchial
34	chr8:1860400-1864600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:1860400-1876400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:1860600-1878000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:1860800-1866800	Weak transcription	HMEC	breast
38	chr8:1860800-1871800	Weak transcription	Aorta	Aorta
39	chr8:1860800-1872400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:1861400-1864600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:1861600-1866600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:1861800-1866400	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr8:1862000-1865800	Enhancers	Brain Cingulate Gyrus	brain
44	chr8:1862200-1864600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:1862200-1865800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:1862200-1880400	Weak transcription	Fetal Heart	heart
47	chr8:1862400-1864800	Strong transcription	NHEK	skin
48	chr8:1862600-1872200	Weak transcription	Left Ventricle	heart
49	chr8:1862600-1873400	Weak transcription	Ovary	ovary
50	chr8:1862800-1864800	Strong transcription	HUVEC	blood vessel

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