Variant report

Variant	esv3444212
Chromosome Location	chr21:47218421-47219034
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-9	chr21:47216897-47218723	NONHSAT082995
2	lnc-SLC19A1-11	chr21:47218059-47219205	NONHSAT082994
3	lnc-COL6A1-9	chr21:47218855-47219205	NONHSAT082995

Extended variants
information (count: 54 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202074158	chr21:47218421-47218422	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs567840408	chr21:47218425-47218426	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs113750378	chr21:47218432-47218433	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs112261406	chr21:47218453-47218454	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs79252038	chr21:47218454-47218455	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs75205321	chr21:47218478-47218479	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs373084274	chr21:47218488-47218489	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs112678096	chr21:47218533-47218534	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs571031287	chr21:47218534-47218535	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs111793015	chr21:47218543-47218544	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538212281	chr21:47218568-47218569	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs376815567	chr21:47218602-47218603	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs556546313	chr21:47218604-47218605	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs575399325	chr21:47218608-47218609	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs183422436	chr21:47218612-47218613	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs369791690	chr21:47218633-47218634	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs554606513	chr21:47218634-47218635	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs572973970	chr21:47218667-47218668	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113721935	chr21:47218668-47218669	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs540456223	chr21:47218678-47218679	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs553473087	chr21:47218679-47218680	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs373131736	chr21:47218692-47218693	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs143021193	chr21:47218712-47218713	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs545376257	chr21:47218717-47218718	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs563697915	chr21:47218719-47218720	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs28498637	chr21:47218734-47218735	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs150298438	chr21:47218739-47218740	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs28684590	chr21:47218744-47218745	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs199871873	chr21:47218783-47218784	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs373124176	chr21:47218791-47218792	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs28567890	chr21:47218797-47218798	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs112268225	chr21:47218820-47218821	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs111965198	chr21:47218830-47218831	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs56876227	chr21:47218832-47218833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs369483456	chr21:47218836-47218837	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs373500736	chr21:47218839-47218840	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs28498860	chr21:47218859-47218860	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs112056429	chr21:47218862-47218863	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs113498911	chr21:47218863-47218864	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs28564437	chr21:47218867-47218868	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs371463996	chr21:47218877-47218878	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528632542	chr21:47218889-47218890	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs546804938	chr21:47218892-47218893	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs28504458	chr21:47218901-47218902	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200186778	chr21:47218918-47218919	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs201089667	chr21:47218932-47218933	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs149488212	chr21:47218953-47218954	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs199692327	chr21:47218959-47218960	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs372369913	chr21:47218968-47218969	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs112536220	chr21:47218969-47218970	Weak transcription	lncRNA	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47213400-47219800	Weak transcription	Fetal Thymus	thymus
2	chr21:47217600-47219800	Weak transcription	Thymus	Thymus
3	chr21:47217800-47219800	Weak transcription	Spleen	Spleen
4	chr21:47217800-47223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:47217800-47226200	Weak transcription	Gastric	stomach
6	chr21:47217800-47229400	Weak transcription	Esophagus	oesophagus
7	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
8	chr21:47218000-47231000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea

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