Variant report

Variant	rs185067733
Chromosome Location	chr21:40554716-40554717
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	TAF1	chr21:40554575-40556243	MCF-7	breast:	n/a	n/a
2	MAX	chr21:40554449-40556159	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
3	ELF1	chr21:40554679-40556142	GM12878	blood:	n/a	n/a
4	MAFK	chr21:40554678-40554731	K562	blood:	n/a	n/a
5	MAX	chr21:40554534-40556257	MCF-7	breast:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
6	MAX	chr21:40554104-40556218	NB4	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
7	HDAC2	chr21:40554592-40556281	MCF-7	breast:	n/a	chr21:40555466-40555475
8	JUND	chr21:40554629-40556282	MCF-7	breast:	n/a	chr21:40555407-40555416 chr21:40555482-40555491
9	MAX	chr21:40554608-40556254	ECC-1	luminal epithelium:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
10	ZNF143	chr21:40554627-40554790	K562	blood:	n/a	n/a
11	E2F6	chr21:40554707-40555610	K562	blood:	n/a	n/a
12	TBP	chr21:40554331-40556457	K562	blood:	n/a	n/a
13	MAX	chr21:40554338-40556187	Hela-S3	cervix:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
14	BACH1	chr21:40554695-40555957	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr21:40554697-40556135	K562	blood:	n/a	chr21:40555795-40555806 chr21:40556007-40556016
16	MYC	chr21:40554007-40556427	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
17	POLR2A	chr21:40554254-40556348	Hela-S3	cervix:	n/a	n/a
18	RUNX3	chr21:40554698-40556180	GM12878	blood:	n/a	n/a
19	POLR2A	chr21:40553981-40556152	IMR90	lung:	n/a	n/a
20	SIN3AK20	chr21:40554464-40556404	MCF-7	breast:	n/a	n/a
21	TEAD4	chr21:40553883-40556682	K562	blood:	n/a	n/a
22	HCFC1	chr21:40554609-40556120	K562	blood:	n/a	n/a
23	MYC	chr21:40554497-40556106	NB4	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
24	MAX	chr21:40554683-40556243	HepG2	liver:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
25	HDAC2	chr21:40554613-40555500	MCF-7	breast:	n/a	chr21:40555466-40555475
26	POLR2A	chr21:40554693-40556163	ECC-1	luminal epithelium:	n/a	n/a
27	MXI1	chr21:40553519-40556556	IMR90	lung:	n/a	chr21:40554025-40554034
28	UBTF	chr21:40554650-40556475	K562	blood:	n/a	n/a
29	HEY1	chr21:40553995-40556159	K562	blood:	n/a	chr21:40555851-40555866 chr21:40555410-40555425 chr21:40554795-40554810
30	POLR2A	chr21:40554048-40556465	MCF10A-Er-Src	breast:	n/a	n/a
31	HDAC2	chr21:40554712-40555129	K562	blood:	n/a	n/a
32	CUX1	chr21:40554596-40554871	K562	blood:	n/a	n/a
33	MAX	chr21:40554352-40556176	HepG2	liver:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
34	POLR2A	chr21:40554678-40556861	GM12878	blood:	n/a	n/a
35	E2F6	chr21:40554096-40556091	K562	blood:	n/a	chr21:40556039-40556053 chr21:40556007-40556016 chr21:40554560-40554572
36	MXI1	chr21:40554495-40556223	GM12878	blood:	n/a	n/a
37	POLR2A	chr21:40554073-40556379	K562	blood:	n/a	n/a
38	POLR2A	chr21:40554680-40556171	GM12892	blood:	n/a	n/a
39	POLR2A	chr21:40554548-40556993	GM12891	blood:	n/a	n/a
40	POLR2A	chr21:40554673-40556231	K562	blood:	n/a	n/a
41	MYC	chr21:40554057-40556055	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
42	SIN3A	chr21:40554598-40556195	H1-hESC	embryonic stem cell:	n/a	chr21:40554923-40554936 chr21:40555888-40555897 chr21:40555871-40555884
43	MAX	chr21:40554650-40556120	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
44	POLR2A	chr21:40554498-40556130	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr21:40554701-40554838	HepG2	liver:	n/a	n/a
46	MAX	chr21:40554645-40555978	K562	blood:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
47	EP300	chr21:40554343-40556045	K562	blood:	n/a	n/a
48	MAX	chr21:40554689-40556267	ECC-1	luminal epithelium:	n/a	chr21:40555812-40555822 chr21:40555316-40555325
49	MXI1	chr21:40553968-40556305	K562	blood:	n/a	chr21:40554025-40554034
50	POLR2A	chr21:40553945-40556144	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
2	chr21:40554206..40555769-chr21:40571633..40573834,2	K562	blood:
3	chr21:40552516..40555515-chr21:40758943..40760790,2	MCF-7	breast:
4	chr21:40552682..40557546-chr21:40815502..40820280,12	K562	blood:
5	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
6	chr21:40554325..40556073-chr21:40808791..40811765,2	K562	blood:
7	chr21:40552682..40557091-chr21:40814575..40819975,14	K562	blood:
8	chr21:40554651..40557222-chr21:40599686..40602201,3	K562	blood:
9	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
10	chr21:40554460..40556456-chr21:40823248..40825971,3	K562	blood:
11	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
12	chr21:40553901..40555576-chr21:40760955..40763916,2	K562	blood:
13	chr21:40552621..40555799-chr21:40758034..40760615,3	K562	blood:
14	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
15	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
16	chr21:40552640..40555791-chr21:40749339..40752310,3	K562	blood:
17	chr21:40554637..40556936-chr21:40588612..40590641,2	K562	blood:
18	chr21:40553976..40556398-chr21:40816228..40819085,2	MCF-7	breast:
19	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:
20	chr21:40032723..40034705-chr21:40552796..40555245,2	MCF-7	breast:
21	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:

Variant related genes	Relation type
ENSG00000272991	TF binding region
PSMG1	TF binding region
ENSG00000185658	Chromatin interaction
ENSG00000157557	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000157554	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	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3422692	chr21:40554107-40556955	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40553000-40556600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:40553600-40554800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:40553600-40554800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr21:40553600-40554800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:40553600-40555000	Flanking Active TSS	Dnd41	blood
6	chr21:40553600-40557200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr21:40553800-40555000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:40553800-40555200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:40553800-40556200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:40553800-40557000	Active TSS	GM12878-XiMat	blood
11	chr21:40554000-40554800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr21:40554000-40554800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr21:40554000-40554800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr21:40554000-40554800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:40554000-40554800	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr21:40554000-40554800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr21:40554000-40555000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:40554000-40555000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr21:40554000-40555000	Flanking Active TSS	Liver	Liver
20	chr21:40554000-40555000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr21:40554000-40555000	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr21:40554000-40555000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr21:40554000-40555200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr21:40554000-40555200	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr21:40554000-40555200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr21:40554000-40555200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr21:40554000-40556400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:40554000-40556400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr21:40554000-40556600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr21:40554000-40556600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:40554000-40556600	Active TSS	Colonic Mucosa	Colon
32	chr21:40554000-40556600	Active TSS	Fetal Muscle Trunk	muscle
33	chr21:40554000-40556600	Active TSS	A549	lung
34	chr21:40554000-40556800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr21:40554000-40557200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:40554200-40554800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:40554200-40554800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:40554200-40554800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr21:40554200-40554800	Flanking Active TSS	Fetal Heart	heart
40	chr21:40554200-40554800	Flanking Active TSS	Fetal Stomach	stomach
41	chr21:40554200-40555000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr21:40554200-40555000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr21:40554200-40555000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr21:40554200-40555000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr21:40554200-40555000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr21:40554200-40555200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr21:40554200-40555200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr21:40554200-40556200	Active TSS	Esophagus	oesophagus
49	chr21:40554200-40556200	Active TSS	Lung	lung
50	chr21:40554200-40556200	Active TSS	Pancreas	Pancrea

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