Variant report

Variant	esv3378185
Chromosome Location	chr21:47217416-47217891
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	chr21:47208812..47212516-chr21:47213678..47217597,6	K562	blood:
2	chr21:47212372..47214255-chr21:47215488..47217482,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A1-9	chr21:47216897-47218723	NONHSAT082995
2	lnc-SLC19A1-11	chr21:47216897-47217493	NONHSAT082994

Extended variants
information (count: 65 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78835951	chr21:47217425-47217426	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10154110	chr21:47217430-47217431	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs62214560	chr21:47217440-47217441	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200266579	chr21:47217454-47217455	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs201246365	chr21:47217455-47217456	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs372295579	chr21:47217471-47217472	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs147551138	chr21:47217481-47217482	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs201087206	chr21:47217492-47217493	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs540630321	chr21:47217498-47217499	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs73378584	chr21:47217503-47217504	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs181387154	chr21:47217536-47217537	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs78973458	chr21:47217565-47217566	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs76151501	chr21:47217580-47217581	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs62214561	chr21:47217583-47217584	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs62214562	chr21:47217598-47217599	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs79985648	chr21:47217602-47217603	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186903253	chr21:47217605-47217606	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113414337	chr21:47217619-47217620	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs62214563	chr21:47217621-47217622	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs79325273	chr21:47217627-47217628	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs62214564	chr21:47217651-47217652	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs552554389	chr21:47217659-47217660	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs77913744	chr21:47217664-47217665	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs72497639	chr21:47217675-47217676	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370093854	chr21:47217676-47217677	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs151254910	chr21:47217681-47217682	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs201960387	chr21:47217684-47217685	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145113686	chr21:47217686-47217687	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs77729928	chr21:47217689-47217690	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs79830005	chr21:47217692-47217693	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs13047825	chr21:47217704-47217705	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs13051910	chr21:47217719-47217720	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs13050637	chr21:47217721-47217722	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs79577065	chr21:47217729-47217730	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs373298326	chr21:47217732-47217733	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs375727603	chr21:47217733-47217734	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370055573	chr21:47217738-47217739	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs374100272	chr21:47217739-47217740	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs13047834	chr21:47217740-47217741	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs368285748	chr21:47217749-47217750	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs370501254	chr21:47217756-47217757	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs111289883	chr21:47217761-47217762	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs113119699	chr21:47217762-47217763	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs111375527	chr21:47217763-47217764	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs200421246	chr21:47217766-47217767	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs142024019	chr21:47217769-47217770	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs62214566	chr21:47217770-47217771	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs62214567	chr21:47217772-47217773	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs76083859	chr21:47217779-47217780	ZNF genes & repeats Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs111587238	chr21:47217784-47217785	ZNF genes & repeats Weak transcription Active TSS	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47213400-47219800	Weak transcription	Fetal Thymus	thymus
2	chr21:47217000-47217600	ZNF genes & repeats	Fetal Kidney	kidney
3	chr21:47217200-47217600	ZNF genes & repeats	Brain Angular Gyrus	brain
4	chr21:47217200-47217600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
5	chr21:47217200-47217600	ZNF genes & repeats	Thymus	Thymus
6	chr21:47217200-47217800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:47217200-47217800	ZNF genes & repeats	Gastric	stomach
8	chr21:47217200-47217800	ZNF genes & repeats	Right Atrium	heart
9	chr21:47217200-47217800	Active TSS	Spleen	Spleen
10	chr21:47217200-47218000	ZNF genes & repeats	Pancreas	Pancrea
11	chr21:47217400-47217600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
12	chr21:47217400-47217600	ZNF genes & repeats	K562	blood
13	chr21:47217400-47217800	ZNF genes & repeats	Esophagus	oesophagus
14	chr21:47217600-47219800	Weak transcription	Thymus	Thymus
15	chr21:47217800-47218200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:47217800-47219800	Weak transcription	Spleen	Spleen
17	chr21:47217800-47223400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:47217800-47226200	Weak transcription	Gastric	stomach
19	chr21:47217800-47229400	Weak transcription	Esophagus	oesophagus
20	chr21:47217800-47260400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links