Variant report

Variant	rs4130964
Chromosome Location	chr8:1902490-1902491
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1869392..1872141-chr8:1901807..1903545,2	K562	blood:

Variant related genes	Relation type
ENSG00000104728	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13260541	0.96[EUR][1000 genomes]
rs14375	0.94[EUR][1000 genomes]
rs4546706	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5025039	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6558566	0.89[EUR][1000 genomes]
rs6984792	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7386548	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7832438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9644316	0.98[EUR][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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	esv1807734	chr8:1900680-1904241	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 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	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:1884600-1906200	Weak transcription	A549	lung
6	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:1888000-1904800	Weak transcription	HMEC	breast
8	chr8:1889400-1905000	Weak transcription	HSMM	muscle
9	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
10	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:1891200-1906000	Weak transcription	Fetal Heart	heart
12	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:1892200-1906000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:1894000-1903800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:1894000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:1894200-1904800	Weak transcription	Ovary	ovary
18	chr8:1894200-1905000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:1895200-1904600	Weak transcription	Fetal Lung	lung
20	chr8:1895600-1904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:1895600-1905600	Weak transcription	NHLF	lung
22	chr8:1895600-1906200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:1895600-1907000	Weak transcription	Fetal Intestine Large	intestine
24	chr8:1896600-1904800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:1896800-1905200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:1897400-1906000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:1897600-1906200	Weak transcription	NH-A	brain
28	chr8:1898200-1902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:1898200-1905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:1898400-1904800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:1898400-1906000	Weak transcription	HSMMtube	muscle
32	chr8:1898400-1908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:1898600-1903400	Weak transcription	Lung	lung
34	chr8:1898600-1903600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:1898600-1903600	Weak transcription	Spleen	Spleen
36	chr8:1898600-1904600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:1898600-1904600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:1898600-1905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:1898600-1905000	Weak transcription	Left Ventricle	heart
40	chr8:1898600-1905800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:1898800-1906000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr8:1900200-1905600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:1900200-1909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:1900400-1904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:1900600-1902600	Flanking Active TSS	Fetal Thymus	thymus
46	chr8:1901000-1902600	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:1901000-1902800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:1901000-1902800	Enhancers	Fetal Muscle Leg	muscle
49	chr8:1901000-1903600	Weak transcription	Aorta	Aorta
50	chr8:1901000-1903800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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