Variant report

Variant	rs200797889
Chromosome Location	chr4:110223019-110223020
allele	C/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	chr4:110222652-110224622	Hela-S3	cervix:	n/a	n/a
2	SMARCC1	chr4:110222938-110224752	Hela-S3	cervix:	n/a	n/a
3	MAX	chr4:110222673-110223240	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
4	MAX	chr4:110222744-110223166	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
5	MAX	chr4:110222638-110223069	Hela-S3	cervix:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
6	SMARCB1	chr4:110222744-110224609	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr4:110222693-110224729	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
8	RAD21	chr4:110222906-110223080	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr4:110222639-110224837	H1-hESC	embryonic stem cell:	n/a	chr4:110223966-110223975 chr4:110223712-110223719 chr4:110223709-110223724 chr4:110223712-110223719 chr4:110224063-110224075 chr4:110223712-110223719
10	POLR2A	chr4:110222620-110224651	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr4:110222717-110223099	Hela-S3	cervix:	n/a	n/a
12	MAX	chr4:110222734-110224724	H1-hESC	embryonic stem cell:	n/a	chr4:110222849-110222856 chr4:110223549-110223558 chr4:110222847-110222857
13	CTBP2	chr4:110222906-110224632	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3A	chr4:110222780-110223173	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr4:110222627-110223042	Hela-S3	cervix:	n/a	chr4:110222849-110222856 chr4:110222847-110222857
16	MXI1	chr4:110222638-110223129	Hela-S3	cervix:	n/a	chr4:110222847-110222856

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:82782990..82783526-chr4:110222986..110223918,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC24B-1	chr4:110222877-110223861	NONHSAT097774

Variant related genes	Relation type
ENSG00000246774	TF binding region
ENSG00000246067	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv515893	chr4:110222845-110254841	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr4:110221600-110224200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
2	chr4:110221800-110224600	Active TSS	Hela-S3	cervix
3	chr4:110222200-110224600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:110222600-110223200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:110222600-110223200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr4:110222600-110223200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:110222600-110223200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:110222600-110223200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:110222600-110223400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr4:110222600-110223400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
12	chr4:110222600-110223400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr4:110222600-110223800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
15	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
16	chr4:110222600-110223800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
17	chr4:110222600-110224400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr4:110222600-110224800	Active TSS	HSMMtube	muscle
19	chr4:110222800-110223200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr4:110222800-110223200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:110222800-110223200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
22	chr4:110222800-110223200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
23	chr4:110222800-110223200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:110222800-110223200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:110222800-110223200	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
26	chr4:110222800-110223200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
27	chr4:110222800-110223200	Bivalent Enhancer	Esophagus	oesophagus
28	chr4:110222800-110223200	Bivalent Enhancer	Left Ventricle	heart
29	chr4:110222800-110223200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr4:110222800-110223200	Flanking Active TSS	Right Ventricle	heart
31	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
33	chr4:110222800-110223400	Bivalent Enhancer	Liver	Liver
34	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
35	chr4:110222800-110223400	Enhancers	Fetal Heart	heart
36	chr4:110222800-110223400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr4:110222800-110223400	Enhancers	Gastric	stomach
38	chr4:110222800-110223400	Enhancers	Lung	lung
39	chr4:110222800-110223400	Flanking Active TSS	Ovary	ovary
40	chr4:110222800-110223400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
41	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
43	chr4:110222800-110223600	Bivalent Enhancer	Placenta	Placenta
44	chr4:110222800-110223600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
45	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
47	chr4:110222800-110223800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
48	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr4:110222800-110223800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr4:110222800-110224200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood

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