Variant report

Variant	esv3420447
Chromosome Location	chr21:47217706-47218440
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

Extended variants
information (count: 99 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13051910	chr21:47217719-47217720	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs13050637	chr21:47217721-47217722	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs79577065	chr21:47217729-47217730	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs373298326	chr21:47217732-47217733	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs375727603	chr21:47217733-47217734	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs370055573	chr21:47217738-47217739	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs374100272	chr21:47217739-47217740	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs13047834	chr21:47217740-47217741	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs368285748	chr21:47217749-47217750	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs370501254	chr21:47217756-47217757	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs111289883	chr21:47217761-47217762	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs113119699	chr21:47217762-47217763	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs111375527	chr21:47217763-47217764	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs200421246	chr21:47217766-47217767	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs142024019	chr21:47217769-47217770	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs62214566	chr21:47217770-47217771	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs62214567	chr21:47217772-47217773	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs76083859	chr21:47217779-47217780	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs111587238	chr21:47217784-47217785	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs371294608	chr21:47217786-47217787	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78534092	chr21:47217787-47217788	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs76704196	chr21:47217789-47217790	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374536849	chr21:47217800-47217801	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs368947393	chr21:47217801-47217802	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs112478468	chr21:47217807-47217808	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs62214568	chr21:47217810-47217811	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs377165586	chr21:47217813-47217814	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs79731999	chr21:47217818-47217819	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs78514639	chr21:47217819-47217820	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs111509887	chr21:47217820-47217821	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs113453550	chr21:47217827-47217828	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs370365663	chr21:47217837-47217838	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs116946494	chr21:47217841-47217842	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs544892219	chr21:47217886-47217887	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs563277789	chr21:47217895-47217896	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs62214569	chr21:47217904-47217905	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530595744	chr21:47217905-47217906	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs62214570	chr21:47217915-47217916	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs201199844	chr21:47217928-47217929	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs112350483	chr21:47217931-47217932	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs200953323	chr21:47217932-47217933	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs142929698	chr21:47217959-47217960	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs62214571	chr21:47217960-47217961	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs547425394	chr21:47217983-47217984	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375713907	chr21:47218012-47218013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs370953361	chr21:47218020-47218021	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs375182942	chr21:47218022-47218023	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552084693	chr21:47218026-47218027	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs371309904	chr21:47218031-47218032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs368252164	chr21:47218032-47218033	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47213400-47219800	Weak transcription	Fetal Thymus	thymus
2	chr21:47217200-47217800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47217200-47217800	ZNF genes & repeats	Gastric	stomach
4	chr21:47217200-47217800	ZNF genes & repeats	Right Atrium	heart
5	chr21:47217200-47217800	Active TSS	Spleen	Spleen
6	chr21:47217200-47218000	ZNF genes & repeats	Pancreas	Pancrea
7	chr21:47217400-47217800	ZNF genes & repeats	Esophagus	oesophagus
8	chr21:47217600-47219800	Weak transcription	Thymus	Thymus
9	chr21:47217800-47218200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:47217800-47219800	Weak transcription	Spleen	Spleen
11	chr21:47217800-47223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:47217800-47226200	Weak transcription	Gastric	stomach
13	chr21:47217800-47229400	Weak transcription	Esophagus	oesophagus
14	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
15	chr21:47218000-47231000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea

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