Variant report

Variant	rs540475067
Chromosome Location	chr8:11186131-11186132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11185820-11186596	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11140705..11143665-chr8:11184811..11187065,2	K562	blood:

Variant related genes	Relation type
ENSG00000246477	TF binding region
SLC35G5	TF binding region
ENSG00000104643	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	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	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
11	nsv981910	chr8:11185560-11189634	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11171600-11191400	Weak transcription	Psoas Muscle	Psoas
2	chr8:11176000-11187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:11176000-11189000	Weak transcription	Gastric	stomach
4	chr8:11176600-11187000	Weak transcription	Colonic Mucosa	Colon
5	chr8:11178200-11186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:11178600-11186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:11178800-11186200	Weak transcription	Fetal Heart	heart
8	chr8:11179400-11187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:11179600-11186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:11179800-11186400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:11179800-11188000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:11180600-11187000	Weak transcription	Lung	lung
13	chr8:11180600-11190200	Weak transcription	A549	lung
14	chr8:11181600-11186600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:11182200-11186600	Weak transcription	Fetal Brain Female	brain
16	chr8:11182400-11188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:11182400-11193600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:11182600-11186800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:11182600-11188800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:11182800-11186600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:11182800-11187600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:11183000-11186200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr8:11183000-11186400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:11183000-11186400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:11183000-11186400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:11183000-11186600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:11183000-11186600	Weak transcription	Fetal Intestine Large	intestine
28	chr8:11183000-11186800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:11183000-11187000	Weak transcription	Thymus	Thymus
30	chr8:11183000-11187400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:11183000-11187400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:11183000-11188400	Weak transcription	Aorta	Aorta
33	chr8:11183000-11188600	Weak transcription	Ovary	ovary
34	chr8:11183000-11189000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:11183000-11189800	Weak transcription	Primary B cells from cord blood	blood
36	chr8:11183400-11186400	Weak transcription	Primary T cells from cord blood	blood
37	chr8:11183800-11186400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:11183800-11190200	Weak transcription	Liver	Liver
39	chr8:11184000-11186200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr8:11184000-11186400	Weak transcription	HSMM	muscle
41	chr8:11184200-11186400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:11184200-11190200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:11185400-11186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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