Variant report

Variant	esv1810102
Chromosome Location	chr21:47388151-47389593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47389572..47393249-chr21:47393676..47397258,4	K562	blood:
2	chr21:47389198..47390888-chr21:47465741..47468426,2	K562	blood:
3	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:
4	chr21:47387372..47388982-chr21:47392168..47393871,2	MCF-7	breast:
5	chr21:47386674..47388281-chr21:47388690..47390672,2	MCF-7	breast:
6	chr21:47388213..47390098-chr21:47396842..47399384,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8129765	chr21:47388151-47388152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187347175	chr21:47388158-47388159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528865854	chr21:47388184-47388185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368351865	chr21:47388185-47388186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs8129879	chr21:47388196-47388197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192487733	chr21:47388211-47388212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574202581	chr21:47388230-47388231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539720693	chr21:47388301-47388302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79496831	chr21:47388302-47388303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183642403	chr21:47388333-47388334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115919515	chr21:47388353-47388354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187895796	chr21:47388383-47388384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574611115	chr21:47388426-47388427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535420647	chr21:47388509-47388510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554143493	chr21:47388537-47388538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs909430	chr21:47388612-47388613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546516668	chr21:47388616-47388617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558054708	chr21:47388617-47388618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530591226	chr21:47388721-47388722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73374730	chr21:47388844-47388845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199967942	chr21:47388855-47388856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544050452	chr21:47388856-47388857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561731418	chr21:47388871-47388872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57548391	chr21:47388880-47388881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58713630	chr21:47388881-47388882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184254084	chr21:47389055-47389056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190877783	chr21:47389057-47389058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559343680	chr21:47389065-47389066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200844256	chr21:47389089-47389090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533064603	chr21:47389127-47389128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563437017	chr21:47389188-47389189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551686272	chr21:47389290-47389291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569490806	chr21:47389295-47389296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2026285	chr21:47389330-47389331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201289706	chr21:47389406-47389407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548778464	chr21:47389407-47389408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568173007	chr21:47389410-47389411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535992416	chr21:47389489-47389490	Weak 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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47379800-47392000	Weak transcription	Right Atrium	heart
2	chr21:47383600-47390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:47385000-47390000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr21:47385400-47389800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:47385800-47390400	Weak transcription	Liver	Liver
6	chr21:47386000-47390000	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:47386000-47390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:47387200-47390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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