Variant report

Variant	rs11136448
Chromosome Location	chr8:1894758-1894759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1888469..1891151-chr8:1893688..1896485,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1043221	1.00[ASN][1000 genomes]
rs1043225	1.00[ASN][1000 genomes]
rs1043226	1.00[ASN][1000 genomes]
rs11136454	1.00[ASN][1000 genomes]
rs13260541	1.00[ASN][1000 genomes]
rs13267164	1.00[ASN][1000 genomes]
rs13271878	1.00[ASN][1000 genomes]
rs13272508	1.00[ASN][1000 genomes]
rs13276575	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279574	1.00[ASN][1000 genomes]
rs14375	1.00[ASN][1000 genomes]
rs2004869	1.00[ASN][1000 genomes]
rs28414137	1.00[ASN][1000 genomes]
rs34295832	1.00[ASN][1000 genomes]
rs36144043	1.00[ASN][1000 genomes]
rs4546706	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4598291	1.00[ASN][1000 genomes]
rs5025039	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6558566	1.00[ASN][1000 genomes]
rs6981540	1.00[ASN][1000 genomes]
rs6984792	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6984824	1.00[ASN][1000 genomes]
rs7015556	1.00[ASN][1000 genomes]
rs73184743	1.00[ASN][1000 genomes]
rs73184745	1.00[ASN][1000 genomes]
rs73184750	1.00[ASN][1000 genomes]
rs73184755	1.00[ASN][1000 genomes]
rs73184756	1.00[ASN][1000 genomes]
rs73184758	1.00[ASN][1000 genomes]
rs7386016	1.00[ASN][1000 genomes]
rs7386034	1.00[ASN][1000 genomes]
rs7386548	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7386994	1.00[ASN][1000 genomes]
rs7387198	1.00[ASN][1000 genomes]
rs7832438	0.86[AMR][1000 genomes]
rs9314443	1.00[ASN][1000 genomes]
rs9644316	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9650490	1.00[ASN][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	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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:1873800-1894800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
6	chr8:1883000-1896200	Weak transcription	NH-A	brain
7	chr8:1884200-1897000	Weak transcription	Placenta	Placenta
8	chr8:1884400-1895000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
10	chr8:1884600-1898400	Weak transcription	Hela-S3	cervix
11	chr8:1884600-1906200	Weak transcription	A549	lung
12	chr8:1885400-1900000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:1886000-1896400	Weak transcription	HSMMtube	muscle
14	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:1887800-1898000	Weak transcription	Left Ventricle	heart
16	chr8:1887800-1900400	Weak transcription	Gastric	stomach
17	chr8:1888000-1895400	Weak transcription	Esophagus	oesophagus
18	chr8:1888000-1896000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:1888000-1904800	Weak transcription	HMEC	breast
20	chr8:1888400-1896600	Weak transcription	NHEK	skin
21	chr8:1889000-1896600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:1889400-1894800	Weak transcription	Fetal Lung	lung
23	chr8:1889400-1896000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:1889400-1905000	Weak transcription	HSMM	muscle
25	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
26	chr8:1890000-1896600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:1890200-1897600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:1890600-1896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:1891000-1897200	Enhancers	Fetal Brain Male	brain
31	chr8:1891200-1906000	Weak transcription	Fetal Heart	heart
32	chr8:1891400-1897800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:1891600-1894800	Weak transcription	Brain Anterior Caudate	brain
34	chr8:1891600-1898400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:1891800-1896800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:1892000-1894800	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr8:1892000-1899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:1892000-1901200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:1892200-1896800	Genic enhancers	Fetal Stomach	stomach
42	chr8:1892200-1906000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:1892400-1899400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:1892400-1900000	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr8:1892400-1901000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr8:1892800-1900000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:1893000-1895000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:1893000-1895400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:1893000-1898600	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr8:1893200-1896000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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