Variant report

Variant	rs2004869
Chromosome Location	chr8:1943167-1943168
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1043221	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1043225	1.00[ASN][1000 genomes]
rs1043226	1.00[ASN][1000 genomes]
rs11136448	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	1.00[ASN][1000 genomes]
rs13279574	1.00[ASN][1000 genomes]
rs14375	1.00[ASN][1000 genomes]
rs2004868	0.94[EUR][1000 genomes]
rs28414137	1.00[ASN][1000 genomes]
rs34295832	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36144043	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546706	1.00[ASN][1000 genomes]
rs4598291	1.00[ASN][1000 genomes]
rs5025039	1.00[ASN][1000 genomes]
rs6558566	1.00[ASN][1000 genomes]
rs6981540	1.00[ASN][1000 genomes]
rs6984792	1.00[ASN][1000 genomes]
rs6984824	1.00[ASN][1000 genomes]
rs7015556	1.00[ASN][1000 genomes]
rs73184743	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184745	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184755	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184756	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184758	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7386016	1.00[ASN][1000 genomes]
rs7386034	1.00[ASN][1000 genomes]
rs7386548	1.00[ASN][1000 genomes]
rs7386994	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387198	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9314443	1.00[ASN][1000 genomes]
rs9644316	1.00[ASN][1000 genomes]
rs9650490	1.00[ASN][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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv1015930	chr8:1919596-1952936	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv1839364	chr8:1920461-1951163	Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1019578	chr8:1926059-1965389	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1929400-1947800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:1931800-1948800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:1933800-1945200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:1934000-1948800	Weak transcription	Fetal Brain Male	brain
5	chr8:1934600-1948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:1934600-1948800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:1938000-1945800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:1938000-1948400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:1938000-1948600	Weak transcription	Right Atrium	heart
10	chr8:1939800-1948800	Weak transcription	Right Ventricle	heart
11	chr8:1940000-1948400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:1940000-1948800	Weak transcription	Lung	lung
13	chr8:1940200-1948400	Weak transcription	Colonic Mucosa	Colon
14	chr8:1940400-1949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:1940600-1947000	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:1940600-1948200	Weak transcription	Pancreas	Pancrea
17	chr8:1940600-1948400	Weak transcription	Brain Angular Gyrus	brain
18	chr8:1940600-1948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:1940800-1948200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:1940800-1948400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:1941000-1943200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:1941400-1948000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:1941400-1948400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:1941600-1945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:1941800-1944000	Strong transcription	Fetal Brain Female	brain
26	chr8:1941800-1944400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr8:1942200-1946200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr8:1942200-1946400	Weak transcription	Fetal Thymus	thymus
29	chr8:1942400-1947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:1942600-1943400	Enhancers	Osteobl	bone
31	chr8:1942600-1946800	Weak transcription	Brain Anterior Caudate	brain
32	chr8:1942600-1946800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:1942600-1947200	Weak transcription	Adipose Nuclei	Adipose
34	chr8:1942800-1946000	Strong transcription	Fetal Intestine Small	intestine
35	chr8:1942800-1946800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:1943000-1944400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:1943000-1944600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:1943000-1945600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:1943000-1945800	Weak transcription	HSMM	muscle
40	chr8:1943000-1946400	Weak transcription	NH-A	brain
41	chr8:1943000-1946800	Weak transcription	HSMMtube	muscle
42	chr8:1943000-1947000	Weak transcription	Spleen	Spleen
43	chr8:1943000-1948200	Weak transcription	Thymus	Thymus

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