Variant report

Variant	rs550316463
Chromosome Location	chr8:11169805-11169806
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	chr8:11167128..11169807-chr8:11169999..11171845,2	K562	blood:

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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11154200-11181400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:11154200-11183800	Strong transcription	Liver	Liver
3	chr8:11154600-11183000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr8:11155000-11184000	Strong transcription	Dnd41	blood
5	chr8:11155600-11183200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11157200-11180800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:11157400-11182600	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:11157600-11183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:11160000-11176200	Strong transcription	Fetal Thymus	thymus
10	chr8:11160600-11176200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:11160600-11176200	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr8:11160600-11178800	Strong transcription	Fetal Intestine Large	intestine
13	chr8:11161600-11183200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr8:11161800-11182600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr8:11162000-11170200	Strong transcription	Rectal Smooth Muscle	rectum
16	chr8:11162000-11180200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:11162000-11181200	Strong transcription	HSMM	muscle
18	chr8:11162000-11182600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:11162000-11183400	Strong transcription	Primary T cells from cord blood	blood
20	chr8:11162200-11176200	Strong transcription	Primary B cells from cord blood	blood
21	chr8:11162200-11180600	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:11162200-11181000	Strong transcription	Placenta	Placenta
23	chr8:11162200-11181600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr8:11162200-11183200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:11162400-11171000	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr8:11162400-11171200	Strong transcription	Fetal Lung	lung
27	chr8:11162400-11172800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:11162400-11173800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:11162400-11176000	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr8:11162400-11176000	Strong transcription	Brain Anterior Caudate	brain
31	chr8:11162400-11176200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr8:11162400-11179200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:11162400-11179600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:11162400-11180600	Strong transcription	Left Ventricle	heart
35	chr8:11162400-11180800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:11162400-11182600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:11162400-11183000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:11162400-11183000	Strong transcription	Adipose Nuclei	Adipose
39	chr8:11162400-11183200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:11162400-11183600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:11162400-11183800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:11162400-11184000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:11162400-11184000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr8:11162400-11184200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:11162600-11182800	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:11162600-11184000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:11162800-11176000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:11163000-11171000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:11163000-11171400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:11163000-11176000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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