Variant report

Variant	rs34478316
Chromosome Location	chr8:1945778-1945779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1945649..1948332-chr8:1948376..1949994,2	MCF-7	breast:
2	chr8:1920180..1923138-chr8:1945737..1947399,2	MCF-7	breast:
3	chr8:1939104..1942044-chr8:1945221..1947708,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253764	Chromatin interaction
ENSG00000270988	Chromatin interaction
ENSG00000176595	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11776275	0.80[ASN][1000 genomes]
rs11787393	0.82[ASN][1000 genomes]
rs11986732	0.80[ASN][1000 genomes]
rs12541057	0.81[ASN][1000 genomes]
rs12543138	0.81[ASN][1000 genomes]
rs12546246	0.81[ASN][1000 genomes]
rs12547915	0.83[ASN][1000 genomes]
rs13251359	0.81[ASN][1000 genomes]
rs13278963	0.85[ASN][1000 genomes]
rs28705724	0.86[ASN][1000 genomes]
rs34643150	0.96[ASN][1000 genomes]
rs3779714	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4487820	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4492421	0.80[ASN][1000 genomes]
rs4517166	0.90[ASN][1000 genomes]
rs4532640	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545147	0.81[ASN][1000 genomes]
rs4577992	0.80[ASN][1000 genomes]
rs6558570	0.81[ASN][1000 genomes]
rs6986552	0.81[ASN][1000 genomes]
rs7820600	0.81[ASN][1000 genomes]
rs7826277	0.89[ASN][1000 genomes]
rs9657386	0.82[ASN][1000 genomes]
rs9720404	0.87[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:45 , 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	chr8:1934000-1948800	Weak transcription	Fetal Brain Male	brain
4	chr8:1934600-1948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1934600-1948800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:1938000-1945800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:1938000-1948400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:1938000-1948600	Weak transcription	Right Atrium	heart
9	chr8:1939800-1948800	Weak transcription	Right Ventricle	heart
10	chr8:1940000-1948400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:1940000-1948800	Weak transcription	Lung	lung
12	chr8:1940200-1948400	Weak transcription	Colonic Mucosa	Colon
13	chr8:1940400-1949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:1940600-1947000	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:1940600-1948200	Weak transcription	Pancreas	Pancrea
16	chr8:1940600-1948400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:1940600-1948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:1940800-1948200	Weak transcription	Primary T cells from cord blood	blood
19	chr8:1940800-1948400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:1941400-1948000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:1941400-1948400	Weak transcription	Fetal Intestine Large	intestine
22	chr8:1942200-1946200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:1942200-1946400	Weak transcription	Fetal Thymus	thymus
24	chr8:1942400-1947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:1942600-1946800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:1942600-1946800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:1942600-1947200	Weak transcription	Adipose Nuclei	Adipose
28	chr8:1942800-1946000	Strong transcription	Fetal Intestine Small	intestine
29	chr8:1942800-1946800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:1943000-1945800	Weak transcription	HSMM	muscle
31	chr8:1943000-1946400	Weak transcription	NH-A	brain
32	chr8:1943000-1946800	Weak transcription	HSMMtube	muscle
33	chr8:1943000-1947000	Weak transcription	Spleen	Spleen
34	chr8:1943000-1948200	Weak transcription	Thymus	Thymus
35	chr8:1943200-1946400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:1943400-1948600	Weak transcription	Small Intestine	intestine
37	chr8:1944000-1948800	Weak transcription	Fetal Brain Female	brain
38	chr8:1944200-1947400	Enhancers	Fetal Muscle Trunk	muscle
39	chr8:1944400-1946000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:1944400-1947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:1944800-1947400	Enhancers	Osteobl	bone
42	chr8:1945200-1948600	Enhancers	Fetal Muscle Leg	muscle
43	chr8:1945600-1945800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1945600-1947200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:1945600-1948800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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