Variant report

Variant	rs541998011
Chromosome Location	chr8:10587618-10587619
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:49122189..49122746-chr8:10587564..10588179,2	Hela-S3	cervix:
2	chr17:76355751..76356585-chr8:10587149..10587668,2	MCF-7	breast:
3	chr17:76355736..76356660-chr8:10587148..10587669,5	HCT-116	colon:
4	chr3:150320845..150321467-chr8:10587564..10588347,2	Hela-S3	cervix:
5	chr8:10587371..10588109-chrX:24072903..24073555,2	Hela-S3	cervix:
6	chr17:76355700..76356289-chr8:10587147..10587668,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000063177	Chromatin interaction
ENSG00000266970	Chromatin interaction
ENSG00000198843	Chromatin interaction
ENSG00000120742	Chromatin interaction
ENSG00000063176	Chromatin interaction
ENSG00000184557	Chromatin interaction
ENSG00000130741	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
11	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
12	esv3339284	chr8:10586967-10589515	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
2	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
3	chr8:10586000-10588600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
4	chr8:10586000-10588800	Active TSS	Right Atrium	heart
5	chr8:10586200-10588800	Active TSS	Hela-S3	cervix
6	chr8:10586400-10588000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr8:10586400-10588000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr8:10586400-10588400	Active TSS	HUVEC	blood vessel
9	chr8:10586400-10588400	Active TSS	NHEK	skin
10	chr8:10586600-10588400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr8:10586800-10587800	Active TSS	Esophagus	oesophagus
13	chr8:10586800-10587800	Bivalent/Poised TSS	Small Intestine	intestine
14	chr8:10586800-10588000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:10586800-10588000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr8:10586800-10588400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr8:10586800-10588600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:10586800-10588800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr8:10587000-10587800	Bivalent/Poised TSS	Psoas Muscle	Psoas
20	chr8:10587000-10587800	Bivalent/Poised TSS	NH-A	brain
21	chr8:10587000-10588000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
22	chr8:10587000-10588200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:10587000-10588400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:10587000-10588400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:10587000-10588600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:10587000-10588600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:10587000-10588600	Bivalent/Poised TSS	Thymus	Thymus
28	chr8:10587000-10588600	Bivalent/Poised TSS	A549	lung
29	chr8:10587000-10588800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:10587000-10589000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:10587000-10589600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:10587200-10587800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:10587200-10587800	Active TSS	Gastric	stomach
34	chr8:10587200-10587800	Bivalent/Poised TSS	NHLF	lung
35	chr8:10587200-10588000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:10587200-10588000	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:10587200-10588000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
38	chr8:10587200-10588400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr8:10587200-10588400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:10587200-10588400	Active TSS	Ovary	ovary
41	chr8:10587200-10588600	Active TSS	Aorta	Aorta
42	chr8:10587200-10588600	Bivalent/Poised TSS	HepG2	liver
43	chr8:10587200-10588600	Bivalent/Poised TSS	HSMM	muscle
44	chr8:10587200-10588800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:10587200-10588800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:10587200-10588800	Bivalent/Poised TSS	GM12878-XiMat	blood
47	chr8:10587200-10589000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr8:10587200-10589000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:10587200-10589000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:10587200-10589200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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