Variant report

Variant	rs549073143
Chromosome Location	chr8:1948527-1948528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1906659..1908488-chr8:1948019..1949630,2	MCF-7	breast:
2	chr8:1945649..1948332-chr8:1948376..1949994,2	MCF-7	breast:
3	chr8:1947283..1948870-chr8:1955148..1956732,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv3339413	chr8:1947645-1953143	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	esv1820032	chr8:1947938-1954464	Bivalent Enhancer Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	esv1817590	chr8:1947938-1958001	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1931800-1948800	Weak transcription	Brain Germinal Matrix	brain
2	chr8:1934000-1948800	Weak transcription	Fetal Brain Male	brain
3	chr8:1934600-1948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:1934600-1948800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:1938000-1948600	Weak transcription	Right Atrium	heart
6	chr8:1939800-1948800	Weak transcription	Right Ventricle	heart
7	chr8:1940000-1948800	Weak transcription	Lung	lung
8	chr8:1940400-1949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:1940600-1948800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:1943400-1948600	Weak transcription	Small Intestine	intestine
11	chr8:1944000-1948800	Weak transcription	Fetal Brain Female	brain
12	chr8:1945200-1948600	Enhancers	Fetal Muscle Leg	muscle
13	chr8:1945600-1948800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:1946000-1949000	Weak transcription	Psoas Muscle	Psoas
15	chr8:1946200-1948800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:1946400-1948800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:1946400-1949000	Enhancers	Fetal Lung	lung
18	chr8:1946600-1948800	Enhancers	A549	lung
19	chr8:1946800-1948800	Enhancers	Brain Anterior Caudate	brain
20	chr8:1946800-1948800	Enhancers	Fetal Kidney	kidney
21	chr8:1947000-1948800	Enhancers	Brain Substantia Nigra	brain
22	chr8:1947200-1948800	Enhancers	Adipose Nuclei	Adipose
23	chr8:1947400-1948800	Weak transcription	Osteobl	bone
24	chr8:1947600-1948600	Weak transcription	HSMM	muscle
25	chr8:1947600-1949200	Enhancers	Spleen	Spleen
26	chr8:1947800-1948800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:1947800-1948800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr8:1947800-1948800	Weak transcription	HSMMtube	muscle
29	chr8:1948200-1948600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:1948200-1948600	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:1948200-1948800	Enhancers	Primary T cells from cord blood	blood
32	chr8:1948200-1948800	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:1948200-1948800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:1948200-1948800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
35	chr8:1948200-1949000	Enhancers	Pancreas	Pancrea
36	chr8:1948200-1949000	Bivalent Enhancer	Thymus	Thymus
37	chr8:1948400-1948600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
38	chr8:1948400-1948600	Genic enhancers	Fetal Intestine Small	intestine
39	chr8:1948400-1948600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr8:1948400-1948800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr8:1948400-1948800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:1948400-1948800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr8:1948400-1948800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:1948400-1948800	Enhancers	Brain Angular Gyrus	brain
45	chr8:1948400-1948800	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:1948400-1948800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr8:1948400-1948800	Enhancers	Colonic Mucosa	Colon
48	chr8:1948400-1948800	Genic enhancers	Fetal Intestine Large	intestine
49	chr8:1948400-1948800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr8:1948400-1948800	Bivalent Enhancer	Fetal Thymus	thymus

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