Variant report

Variant	rs548135661
Chromosome Location	chr8:11323981-11323982
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
2	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
3	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154319	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv522860	chr8:11253879-11330364	Bivalent/Poised TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv890357	chr8:11286146-11330364	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1030756	chr8:11292073-11332782	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv3481110	chr8:11323919-11323998	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3481111	chr8:11323933-11323995	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11321600-11324000	Enhancers	Left Ventricle	heart
2	chr8:11321600-11325200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr8:11322000-11324000	Enhancers	Fetal Heart	heart
4	chr8:11322000-11324400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr8:11322000-11324600	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:11322400-11325400	Active TSS	Brain Anterior Caudate	brain
7	chr8:11322800-11324000	Flanking Active TSS	GM12878-XiMat	blood
8	chr8:11322800-11324200	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr8:11323000-11324000	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr8:11323000-11324600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:11323000-11324800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
12	chr8:11323000-11324800	Active TSS	Brain Substantia Nigra	brain
13	chr8:11323000-11325200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:11323000-11325200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr8:11323000-11325400	Active TSS	Brain Angular Gyrus	brain
16	chr8:11323000-11325400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr8:11323200-11324000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:11323200-11324000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:11323200-11324000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
20	chr8:11323200-11324000	Flanking Bivalent TSS/Enh	Placenta	Placenta
21	chr8:11323200-11324000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
22	chr8:11323200-11324000	Bivalent/Poised TSS	NHLF	lung
23	chr8:11323200-11324200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:11323200-11324800	Flanking Active TSS	Lung	lung
25	chr8:11323200-11325200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:11323200-11325200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:11323200-11325200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr8:11323400-11324000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:11323400-11324000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:11323400-11324000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:11323400-11324000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr8:11323400-11324000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
33	chr8:11323400-11324000	Flanking Active TSS	Pancreas	Pancrea
34	chr8:11323400-11324000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:11323400-11324000	Enhancers	Spleen	Spleen
36	chr8:11323400-11324000	Bivalent/Poised TSS	Hela-S3	cervix
37	chr8:11323400-11324200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr8:11323400-11324600	Active TSS	HSMM	muscle
39	chr8:11323400-11324800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr8:11323400-11325200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:11323400-11325400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
42	chr8:11323400-11325400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr8:11323600-11324000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr8:11323600-11324000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:11323600-11324000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:11323600-11324000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:11323600-11324000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
48	chr8:11323600-11324000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr8:11323600-11324000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:11323600-11324000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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