Variant report

Variant	esv20961
Chromosome Location	chr21:47316342-47317187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:47316523-47316572	GM13976	blood:	n/a	n/a
2	POLR2A	chr21:47317084-47317107	GM12878	blood:	n/a	n/a
3	UBTF	chr21:47317158-47317327	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47317093-47317143	NHDF-neo	bronchial:	n/a
2	chr21:47317093-47317143	RPTEC	kidney:	n/a
3	chr21:47317093-47317143	CMK	blood:	n/a
4	chr21:47317093-47317143	BE2_C	brain:	n/a
5	chr21:47317093-47317143	Hepatocyte	liver:	n/a
6	chr21:47317093-47317143	ProgFib	skin:	n/a
7	chr21:47317093-47317143	H1-hESC	embryonic stem cell:	embryo
8	chr21:47317093-47317143	AoSMC	blood vessel:	n/a
9	chr21:47317093-47317143	NH-A	brain:	n/a
10	chr21:47317093-47317143	Hela-S3	cervix:	n/a
11	chr21:47317093-47317143	GM19239	blood:	n/a
12	chr21:47317093-47317143	HEK293	kidney:	embryo
13	chr21:47317093-47317143	HCT-116	colon:	n/a
14	chr21:47317093-47317143	SAEC	small airway:	n/a
15	chr21:47317093-47317143	PANC-1	pancreas:	n/a
16	chr21:47317093-47317143	HNPCEpiC	eye:	n/a
17	chr21:47317093-47317143	U87	brain:	n/a
18	chr21:47317093-47317143	BJ	skin:	n/a
19	chr21:47317093-47317143	HUVEC	blood vessel:	n/a
20	chr21:47317093-47317143	ECC-1	luminal epithelium:	n/a
21	chr21:47317093-47317143	PFSK-1	brain:	n/a
22	chr21:47317093-47317143	SK-N-MC	brain:	n/a
23	chr21:47317093-47317143	HPAEpiC	pulmonary alveolar:	n/a
24	chr21:47317093-47317143	NB4	blood:	n/a
25	chr21:47317093-47317143	ovcar-3	ovarian:	n/a
26	chr21:47317093-47317143	GM12878	blood:	n/a
27	chr21:47317093-47317143	NT2-D1	testis:	n/a
28	chr21:47317093-47317143	T-47D	breast:	n/a
29	chr21:47317093-47317143	HRPEpiC	eye:	n/a
30	chr21:47317093-47317143	HCM	heart:	n/a
31	chr21:47317093-47317143	AG04449	skin:	fetal
32	chr21:47317093-47317143	MCF10A-Er-Src	breast:	n/a
33	chr21:47317093-47317143	PrEC	prostate:	n/a
34	chr21:47317093-47317143	SKMC	muscle:	n/a
35	chr21:47317093-47317143	GM06990	blood:	n/a
36	chr21:47317093-47317143	Caco-2	colon:	n/a
37	chr21:47317093-47317143	HEEpiC	esophagus:	n/a
38	chr21:47317093-47317143	LNCaP	prostate:	n/a
39	chr21:47317093-47317143	GM12892	blood:	n/a
40	chr21:47317093-47317143	AG04450	lung:	fetal
41	chr21:47317093-47317143	K562	blood:	n/a
42	chr21:47317093-47317143	HepG2	liver:	n/a
43	chr21:47317093-47317143	A549	lung:	n/a
44	chr21:47317093-47317143	Jurkat	blood:	n/a
45	chr21:47317093-47317143	AG09309	skin:	n/a
46	chr21:47317093-47317143	HL-60	blood:	n/a
47	chr21:47317093-47317143	HMEC	breast:	n/a
48	chr21:47317093-47317143	HCPEpiC	choroid plexus:	n/a
49	chr21:47317093-47317143	HAEpiC	amniotic membrane:	n/a
50	chr21:47317093-47317143	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
PCBP3	TF binding region
PCBP3	CpG island

Extended variants
information (count: 95 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113160686	chr21:47316345-47316346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546677395	chr21:47316346-47316347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11910081	chr21:47316355-47316356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11910427	chr21:47316357-47316358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111909437	chr21:47316371-47316372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111855688	chr21:47316390-47316391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74370749	chr21:47316395-47316396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74683417	chr21:47316404-47316405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571658634	chr21:47316405-47316406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538906893	chr21:47316412-47316413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76822464	chr21:47316414-47316415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79842810	chr21:47316416-47316417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112949968	chr21:47316430-47316431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56382336	chr21:47316449-47316450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62211956	chr21:47316489-47316490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78436397	chr21:47316491-47316492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79044251	chr21:47316493-47316494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77632634	chr21:47316494-47316495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4819166	chr21:47316507-47316508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34709245	chr21:47316511-47316512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4819167	chr21:47316513-47316514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79068984	chr21:47316522-47316523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551708694	chr21:47316532-47316533	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs574285918	chr21:47316534-47316535	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs113777286	chr21:47316548-47316549	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs550867704	chr21:47316551-47316552	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557435314	chr21:47316566-47316567	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77625312	chr21:47316567-47316568	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs570566183	chr21:47316572-47316573	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs77695595	chr21:47316581-47316582	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13052251	chr21:47316591-47316592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13046397	chr21:47316593-47316594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35138166	chr21:47316609-47316610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36192182	chr21:47316611-47316612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61653555	chr21:47316612-47316613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13046022	chr21:47316625-47316626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13046528	chr21:47316626-47316627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78451829	chr21:47316631-47316632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs33943644	chr21:47316640-47316641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112015692	chr21:47316642-47316643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545416259	chr21:47316650-47316651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56167411	chr21:47316652-47316653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185302683	chr21:47316655-47316656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35177139	chr21:47316666-47316667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36178797	chr21:47316684-47316685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55913996	chr21:47316685-47316686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13049486	chr21:47316690-47316691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13049583	chr21:47316699-47316700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555176783	chr21:47316703-47316704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13049588	chr21:47316709-47316710	Weak transcription Strong transcription	n/a	n/a	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47313400-47321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:47313800-47321600	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:47314600-47324600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:47314600-47327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr21:47314600-47330200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:47314800-47317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47315000-47330200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr21:47315200-47323400	Weak transcription	HSMMtube	muscle
12	chr21:47315200-47330200	Weak transcription	Adipose Nuclei	Adipose
13	chr21:47315400-47317400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:47315600-47316600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:47315800-47317400	Strong transcription	Spleen	Spleen
16	chr21:47315800-47319600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:47316200-47317200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:47316200-47322600	Weak transcription	Fetal Thymus	thymus
19	chr21:47316200-47326600	Strong transcription	Thymus	Thymus
20	chr21:47316600-47317600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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