Variant report

Variant	rs541428994
Chromosome Location	chr8:119007308-119007309
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	chr8:119004216..119005864-chr8:119006227..119009143,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv512063	chr8:119007302-119012733	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
3	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
4	chr8:118999600-119007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:119002000-119010000	Weak transcription	HSMM	muscle
8	chr8:119002000-119011800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:119002200-119007400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:119002200-119007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:119002200-119010000	Weak transcription	NH-A	brain
12	chr8:119002800-119011800	Weak transcription	Colonic Mucosa	Colon
13	chr8:119003200-119007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:119003600-119013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:119004200-119008200	Enhancers	Aorta	Aorta
16	chr8:119005000-119011800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:119005000-119016400	Weak transcription	Left Ventricle	heart
18	chr8:119005000-119016400	Weak transcription	Right Atrium	heart
19	chr8:119005000-119017200	Weak transcription	Right Ventricle	heart
20	chr8:119005000-119021200	Weak transcription	Gastric	stomach
21	chr8:119005200-119007400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:119005200-119007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:119005200-119008600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:119005200-119010000	Weak transcription	HMEC	breast
25	chr8:119005200-119010600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:119005200-119010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:119005200-119012600	Weak transcription	Lung	lung
28	chr8:119005200-119012600	Weak transcription	Ovary	ovary
29	chr8:119005200-119012600	Weak transcription	Pancreas	Pancrea
30	chr8:119005400-119007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:119005400-119012400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:119005600-119007600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:119005600-119010000	Weak transcription	A549	lung
34	chr8:119005600-119010600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:119005800-119010800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:119005800-119010800	Weak transcription	Fetal Intestine Large	intestine
37	chr8:119005800-119011000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:119005800-119012800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:119006000-119010000	Weak transcription	NHLF	lung
40	chr8:119006000-119010600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:119006200-119007400	Weak transcription	Fetal Heart	heart
42	chr8:119006200-119007800	Weak transcription	Liver	Liver
43	chr8:119006200-119009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:119006200-119010600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:119006400-119010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:119006400-119010600	Weak transcription	Small Intestine	intestine
47	chr8:119006400-119010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:119006400-119010800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:119006600-119007800	Enhancers	Psoas Muscle	Psoas
50	chr8:119006600-119009800	Weak transcription	NHDF-Ad	bronchial

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