Variant report

Variant	rs566997509
Chromosome Location	chr1:220251420-220251421
allele	G/T
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	chr1:220251384-220251461	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220250499..220254001-chr1:220255278..220257878,3	K562	blood:

Variant related genes	Relation type
BPNT1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases
4	esv3420090	chr1:220250879-220252927	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3404238	chr1:220251379-220252477	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220220400-220257600	Weak transcription	Stomach Mucosa	stomach
2	chr1:220220600-220262400	Weak transcription	Pancreas	Pancrea
3	chr1:220220600-220262400	Weak transcription	NHLF	lung
4	chr1:220220800-220261600	Weak transcription	Fetal Brain Male	brain
5	chr1:220234400-220253600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:220236400-220262800	Weak transcription	Esophagus	oesophagus
7	chr1:220238000-220262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:220238000-220267400	Weak transcription	Spleen	Spleen
9	chr1:220238200-220262800	Weak transcription	Gastric	stomach
10	chr1:220239400-220262000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:220239600-220255200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:220239600-220261600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:220239600-220262400	Weak transcription	Right Ventricle	heart
14	chr1:220241200-220256800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:220241200-220258200	Weak transcription	Hela-S3	cervix
16	chr1:220241200-220261800	Weak transcription	A549	lung
17	chr1:220241200-220262000	Weak transcription	HMEC	breast
18	chr1:220241200-220262400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:220241200-220262400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:220241400-220262400	Weak transcription	NHEK	skin
21	chr1:220241600-220253000	Strong transcription	Fetal Intestine Small	intestine
22	chr1:220242600-220262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:220243800-220262400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:220245800-220251800	Strong transcription	Fetal Lung	lung
25	chr1:220246200-220262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:220246400-220255000	Weak transcription	Brain Angular Gyrus	brain
27	chr1:220246400-220255000	Weak transcription	HSMMtube	muscle
28	chr1:220246400-220256000	Weak transcription	Fetal Kidney	kidney
29	chr1:220246400-220261600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:220246400-220261800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:220246400-220262000	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:220246400-220262400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:220246400-220262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:220246400-220262400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:220246400-220262400	Weak transcription	Brain Anterior Caudate	brain
36	chr1:220246400-220262400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:220246400-220262400	Weak transcription	Brain Substantia Nigra	brain
38	chr1:220246400-220262400	Weak transcription	Fetal Brain Female	brain
39	chr1:220246600-220253600	Weak transcription	Primary B cells from cord blood	blood
40	chr1:220246600-220262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:220246600-220262400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:220246600-220262400	Weak transcription	Colonic Mucosa	Colon
43	chr1:220246800-220262400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:220246800-220262400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:220246800-220262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr1:220246800-220262400	Weak transcription	Fetal Heart	heart
47	chr1:220246800-220262400	Weak transcription	Thymus	Thymus
48	chr1:220247000-220256800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:220247000-220257600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:220247000-220258600	Weak transcription	Ovary	ovary

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