Variant report

Variant	rs143249221
Chromosome Location	chr8:42773824-42773825
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	chr8:42750689..42754402-chr8:42769878..42774484,6	K562	blood:

Variant related genes	Relation type
ENSG00000168172	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000266044	Chromatin interaction

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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
2	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
3	chr8:42754200-42775200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
6	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
8	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:42756200-42775000	Weak transcription	Right Ventricle	heart
10	chr8:42756200-42775200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:42757600-42775000	Weak transcription	Fetal Heart	heart
12	chr8:42758200-42775400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:42760800-42775400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:42762800-42775400	Weak transcription	HMEC	breast
16	chr8:42764800-42781800	Weak transcription	Placenta	Placenta
17	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
18	chr8:42765400-42781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:42766200-42775400	Weak transcription	NHEK	skin
20	chr8:42766400-42775400	Weak transcription	NH-A	brain
21	chr8:42766800-42775600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr8:42767200-42781400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:42767400-42775400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:42767400-42780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:42767400-42781000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:42768200-42780800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:42768800-42781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:42769200-42775000	Weak transcription	Fetal Brain Female	brain
31	chr8:42769200-42782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr8:42769200-42785600	Weak transcription	Fetal Kidney	kidney
33	chr8:42769400-42778200	Weak transcription	Fetal Lung	lung
34	chr8:42769400-42781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:42769400-42785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:42769800-42775000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:42769800-42781000	Weak transcription	Primary T cells from cord blood	blood
39	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:42770400-42781000	Weak transcription	Primary B cells from cord blood	blood
42	chr8:42770600-42781400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:42771000-42774200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:42771400-42774400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:42771400-42775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:42771400-42780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:42771400-42781200	Weak transcription	Fetal Stomach	stomach
48	chr8:42771400-42788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:42771800-42787200	Weak transcription	GM12878-XiMat	blood
50	chr8:42772000-42775400	Weak transcription	Stomach Mucosa	stomach

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