Variant report

Variant	rs17476240
Chromosome Location	chr8:119004786-119004787
allele	C/T
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)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17476149	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118991200-119004800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:118992800-119007600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:118993200-119012600	Weak transcription	Fetal Brain Male	brain
4	chr8:118994000-119005800	Weak transcription	Psoas Muscle	Psoas
5	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:118997800-119004800	Weak transcription	Fetal Thymus	thymus
7	chr8:118998400-119006800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:118998600-119006600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:118999600-119007400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:119000000-119006400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:119000800-119005200	Enhancers	Pancreas	Pancrea
12	chr8:119000800-119006000	Enhancers	NHLF	lung
13	chr8:119001000-119005400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:119001200-119004800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:119001200-119004800	Weak transcription	Ovary	ovary
16	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:119001400-119005200	Enhancers	HMEC	breast
18	chr8:119001400-119006400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:119002000-119004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:119002000-119004800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:119002000-119010000	Weak transcription	HSMM	muscle
23	chr8:119002000-119011800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:119002200-119004800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:119002200-119004800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:119002200-119004800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:119002200-119005400	Enhancers	HepG2	liver
28	chr8:119002200-119006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:119002200-119007000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:119002200-119007400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:119002200-119007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:119002200-119010000	Weak transcription	NH-A	brain
33	chr8:119002400-119007200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:119002600-119004800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:119002800-119011800	Weak transcription	Colonic Mucosa	Colon
36	chr8:119003000-119004800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:119003000-119004800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:119003000-119004800	Weak transcription	Spleen	Spleen
39	chr8:119003000-119006600	Enhancers	NHEK	skin
40	chr8:119003200-119004800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:119003200-119007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:119003600-119005000	Enhancers	Stomach Smooth Muscle	stomach
43	chr8:119003600-119013200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:119003800-119005200	Enhancers	Lung	lung
45	chr8:119003800-119005200	Enhancers	Stomach Mucosa	stomach
46	chr8:119004000-119005000	Enhancers	Left Ventricle	heart
47	chr8:119004000-119005200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:119004000-119006200	Enhancers	Liver	Liver
49	chr8:119004000-119006200	Enhancers	Colon Smooth Muscle	Colon
50	chr8:119004000-119006200	Enhancers	Osteobl	bone

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