Variant report

Variant	esv1001372
Chromosome Location	chr21:47166543-47166588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr21:47165800-47166974	GM12878	blood:	n/a	n/a
2	BCL3	chr21:47166470-47166660	GM12878	blood:	n/a	n/a
3	BCL3	chr21:47166463-47166666	GM12878	blood:	n/a	n/a
4	EP300	chr21:47166024-47166672	GM12878	blood:	n/a	n/a
5	FOSL2	chr21:47166060-47166652	HepG2	liver:	n/a	n/a
6	GABPA	chr21:47166566-47166886	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr21:47166022-47166574	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr21:47166070-47166558	Hela-S3	cervix:	n/a	n/a
9	HEY1	chr21:47166504-47166963	K562	blood:	n/a	n/a
10	HEY1	chr21:47166468-47166903	K562	blood:	n/a	n/a
11	IRF4	chr21:47165874-47166936	GM12878	blood:	n/a	n/a
12	IRF4	chr21:47165926-47166909	GM12878	blood:	n/a	n/a
13	NR3C1	chr21:47166484-47166908	A549	lung:	n/a	n/a
14	PAX5	chr21:47166018-47166931	GM12878	blood:	n/a	n/a
15	PAX5	chr21:47166569-47166871	GM12878	blood:	n/a	n/a
16	PAX5	chr21:47165798-47166929	GM12878	blood:	n/a	n/a
17	PAX5	chr21:47165631-47167012	GM12878	blood:	n/a	n/a
18	PBX3	chr21:47166065-47166936	GM12878	blood:	n/a	n/a
19	PBX3	chr21:47165711-47166962	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:47165694-47166982	GM12891	blood:	n/a	n/a
21	POLR2A	chr21:47165519-47167135	GM12892	blood:	n/a	n/a
22	POLR2A	chr21:47165739-47166948	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr21:47165714-47167019	GM12878	blood:	n/a	n/a
24	POLR2A	chr21:47166018-47166901	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:47165686-47166977	GM12891	blood:	n/a	n/a
26	POU2F2	chr21:47165766-47166957	GM12878	blood:	n/a	n/a
27	POU2F2	chr21:47165680-47167042	GM12891	blood:	n/a	n/a
28	POU2F2	chr21:47165679-47167041	GM12891	blood:	n/a	n/a
29	POU2F2	chr21:47165703-47166984	GM12878	blood:	n/a	n/a
30	REST	chr21:47165811-47166968	PANC-1	pancreas:	n/a	n/a
31	RXRA	chr21:47166192-47166618	HepG2	liver:	n/a	n/a
32	RXRA	chr21:47166289-47166919	HepG2	liver:	n/a	n/a
33	SIX5	chr21:47166176-47166587	K562	blood:	n/a	n/a
34	SIX5	chr21:47166055-47166806	K562	blood:	n/a	n/a
35	SIX5	chr21:47166456-47167065	GM12878	blood:	n/a	n/a
36	SP1	chr21:47166038-47166918	GM12878	blood:	n/a	n/a
37	SP1	chr21:47166056-47166691	HepG2	liver:	n/a	n/a
38	TAF1	chr21:47165952-47166904	GM12891	blood:	n/a	n/a
39	TCF12	chr21:47166420-47166909	GM12878	blood:	n/a	n/a
40	TCF3	chr21:47166175-47166960	GM12878	blood:	n/a	n/a
41	TCF3	chr21:47165596-47167097	GM12878	blood:	n/a	n/a
42	ZBTB33	chr21:47165869-47166925	GM12878	blood:	n/a	n/a
43	ZBTB33	chr21:47166002-47166975	GM12878	blood:	n/a	n/a
44	ZBTB33	chr21:47166070-47166920	K562	blood:	n/a	n/a
45	ZBTB33	chr21:47166188-47166903	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47155045..47157882-chr21:47165789..47168073,2	MCF-7	breast:
2	chr21:47163262..47166071-chr21:47166179..47167744,2	MCF-7	breast:

No data

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201081124	chr21:47166543-47166544	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs551306221	chr21:47166555-47166556	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62213280	chr21:47166569-47166570	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs66486374	chr21:47166580-47166581	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs71240738	chr21:47166581-47166582	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536265371	chr21:47166584-47166585	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201979028	chr21:47166586-47166587	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47144200-47167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:47156600-47168000	Weak transcription	Brain Angular Gyrus	brain
3	chr21:47157000-47168200	Weak transcription	Brain Hippocampus Middle	brain
4	chr21:47157800-47167400	Weak transcription	HSMMtube	muscle
5	chr21:47158800-47169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr21:47159000-47168000	Weak transcription	Brain Anterior Caudate	brain
7	chr21:47162400-47167200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:47162400-47167200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:47162400-47167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:47163000-47167400	Weak transcription	NHDF-Ad	bronchial
11	chr21:47164200-47167400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:47164600-47168000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:47165000-47169000	Strong transcription	Primary T cells from cord blood	blood
14	chr21:47165600-47167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr21:47165800-47167600	Strong transcription	Fetal Thymus	thymus
16	chr21:47165800-47171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:47166000-47167200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:47166000-47167200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:47166000-47167400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:47166000-47167400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:47166000-47167600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:47166000-47167600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:47166000-47167600	Weak transcription	Adipose Nuclei	Adipose
24	chr21:47166000-47171400	Weak transcription	Gastric	stomach
25	chr21:47166200-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:47166200-47166800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:47166200-47167200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:47166200-47167200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:47166200-47167200	Weak transcription	Thymus	Thymus
30	chr21:47166200-47167400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr21:47166200-47167400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:47166200-47167400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:47166200-47167400	Weak transcription	HSMM	muscle
34	chr21:47166200-47168200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:47166200-47168200	Weak transcription	Spleen	Spleen
36	chr21:47166200-47174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:47166200-47176800	Weak transcription	Dnd41	blood
38	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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