Variant report

Variant	esv3455405
Chromosome Location	chr21:47778922-47779772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47741199..47743425-chr21:47776810..47778962,2	K562	blood:
2	chr21:47763241..47765458-chr21:47776628..47779413,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138299711	chr21:47778925-47778926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183142117	chr21:47778927-47778928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536008008	chr21:47778945-47778946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149561917	chr21:47778959-47778960	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs567402482	chr21:47778969-47778970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534756427	chr21:47779012-47779013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185128804	chr21:47779022-47779023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376609248	chr21:47779040-47779041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144308202	chr21:47779066-47779067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189550834	chr21:47779114-47779115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146108636	chr21:47779119-47779120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142778707	chr21:47779131-47779132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181281200	chr21:47779147-47779148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557017632	chr21:47779148-47779149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575926375	chr21:47779155-47779156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368433552	chr21:47779176-47779177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141538008	chr21:47779188-47779189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560993439	chr21:47779262-47779263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368223436	chr21:47779314-47779315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200250686	chr21:47779405-47779406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201536680	chr21:47779406-47779407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372821141	chr21:47779443-47779444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146368847	chr21:47779453-47779454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111646729	chr21:47779506-47779507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111636043	chr21:47779513-47779514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139655784	chr21:47779547-47779548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs564903361	chr21:47779563-47779564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9977819	chr21:47779565-47779566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371091554	chr21:47779585-47779586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201969068	chr21:47779593-47779594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9981379	chr21:47779602-47779603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs9981382	chr21:47779603-47779604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs9977837	chr21:47779613-47779614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9977845	chr21:47779624-47779625	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9978535	chr21:47779634-47779635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs183609795	chr21:47779637-47779638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575304013	chr21:47779638-47779639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112036298	chr21:47779654-47779655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562429635	chr21:47779656-47779657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529868633	chr21:47779692-47779693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188014900	chr21:47779729-47779730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117558022	chr21:47779739-47779740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs567456605	chr21:47779751-47779752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191121800	chr21:47779757-47779758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571638161	chr21:47779769-47779770	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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47746000-47793000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:47746400-47789200	Strong transcription	Fetal Muscle Leg	muscle
3	chr21:47746400-47792000	Weak transcription	Fetal Heart	heart
4	chr21:47746400-47797200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:47747600-47787600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:47754000-47781400	Strong transcription	Thymus	Thymus
7	chr21:47754000-47787400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:47754000-47787600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:47754200-47781000	Strong transcription	Fetal Thymus	thymus
10	chr21:47754200-47787800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr21:47763800-47792400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:47764000-47798000	Strong transcription	Fetal Stomach	stomach
13	chr21:47764200-47780000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:47764200-47780400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:47764200-47788000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:47764200-47792400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:47764200-47793200	Strong transcription	Dnd41	blood
18	chr21:47764200-47800200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:47764400-47780000	Strong transcription	Lung	lung
20	chr21:47764400-47797000	Strong transcription	Fetal Intestine Small	intestine
21	chr21:47764600-47788600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:47764600-47790400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:47764800-47784600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:47765400-47780000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr21:47765400-47780200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:47765400-47787600	Strong transcription	Primary T cells from cord blood	blood
27	chr21:47765400-47789600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr21:47765400-47798400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr21:47765600-47779600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr21:47765600-47779800	Strong transcription	Fetal Brain Female	brain
31	chr21:47765600-47780200	Strong transcription	Adipose Nuclei	Adipose
32	chr21:47765600-47781600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:47765600-47788000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr21:47765600-47788400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:47765600-47788600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:47765600-47788600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr21:47765600-47789000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:47767200-47780400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr21:47767400-47779200	Strong transcription	Ovary	ovary
40	chr21:47768400-47779800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:47768400-47795600	Weak transcription	Right Atrium	heart
42	chr21:47768600-47779200	Strong transcription	Right Ventricle	heart
43	chr21:47769800-47782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr21:47771000-47781200	Weak transcription	Fetal Brain Male	brain
45	chr21:47771800-47780800	Weak transcription	Fetal Kidney	kidney
46	chr21:47772000-47780000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr21:47772000-47780200	Strong transcription	Esophagus	oesophagus
48	chr21:47772000-47783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr21:47772200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:47773000-47788400	Strong transcription	Fetal Muscle Trunk	muscle

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