Variant report

Variant	rs554021393
Chromosome Location	chr8:1955677-1955678
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	chr8:1953398..1956111-chr8:1957370..1959528,2	MCF-7	breast:
2	chr8:1947283..1948870-chr8:1955148..1956732,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
15	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
16	nsv518960	chr8:1955283-1959068	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv520178	chr8:1955283-1959336	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1949800-1956800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:1950600-1957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:1950600-1958200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:1951000-1955800	Weak transcription	Colonic Mucosa	Colon
5	chr8:1951600-1958800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:1952200-1956000	Enhancers	Brain Substantia Nigra	brain
7	chr8:1952600-1955800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr8:1953600-1956000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:1953800-1955800	Weak transcription	Lung	lung
10	chr8:1954200-1955800	Enhancers	Adipose Nuclei	Adipose
11	chr8:1954200-1957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:1954200-1957400	Strong transcription	Fetal Intestine Small	intestine
13	chr8:1954400-1956000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:1954400-1956400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:1954400-1957400	Weak transcription	Primary T cells from cord blood	blood
16	chr8:1954400-1958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:1954400-1960200	Weak transcription	Fetal Thymus	thymus
18	chr8:1954600-1956400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:1954600-1956600	Strong transcription	Brain Germinal Matrix	brain
20	chr8:1954600-1958600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:1954800-1955800	Enhancers	Liver	Liver
22	chr8:1954800-1955800	Flanking Active TSS	HSMM	muscle
23	chr8:1954800-1956000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:1954800-1956400	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr8:1955000-1956200	Strong transcription	Fetal Brain Female	brain
26	chr8:1955000-1956600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:1955000-1956800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr8:1955000-1957000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:1955200-1955800	Genic enhancers	Brain Cingulate Gyrus	brain
30	chr8:1955200-1955800	Genic enhancers	Spleen	Spleen
31	chr8:1955200-1956000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:1955200-1956000	Genic enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:1955200-1956000	Enhancers	Psoas Muscle	Psoas
34	chr8:1955200-1956000	Strong transcription	Thymus	Thymus
35	chr8:1955200-1956200	Enhancers	Brain Hippocampus Middle	brain
36	chr8:1955200-1956200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:1955200-1956200	Genic enhancers	Monocytes-CD14+_RO01746	blood
38	chr8:1955200-1959200	Weak transcription	Fetal Kidney	kidney
39	chr8:1955400-1955800	Genic enhancers	Duodenum Mucosa	Duodenum
40	chr8:1955400-1956000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:1955400-1956000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr8:1955400-1956200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:1955400-1956400	Weak transcription	Primary B cells from cord blood	blood
44	chr8:1955600-1955800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:1955600-1955800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:1955600-1955800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr8:1955600-1955800	Flanking Active TSS	HSMMtube	muscle
48	chr8:1955600-1956000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:1955600-1956000	Genic enhancers	Brain Angular Gyrus	brain
50	chr8:1955600-1956000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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