Variant report

Variant	esv3505812
Chromosome Location	chr9:140783289-140785325
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	chr9:140777999..140780667-chr9:140783373..140786900,7	MCF-7	breast:
2	chr9:140778196..140781664-chr9:140782755..140784568,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL772363.1-1	chr9:140784498-140787022	ENSG00000203987.2

Extended variants
information (count: 116 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12342308	chr9:140783294-140783295	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571546212	chr9:140783344-140783345	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537490282	chr9:140783351-140783352	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557157424	chr9:140783360-140783361	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573820374	chr9:140783366-140783367	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368342018	chr9:140783385-140783386	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12156560	chr9:140783401-140783402	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6559248	chr9:140783414-140783415	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12156506	chr9:140783446-140783447	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112460814	chr9:140783473-140783474	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113170757	chr9:140783505-140783506	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535241132	chr9:140783521-140783522	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6559249	chr9:140783532-140783533	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12156584	chr9:140783564-140783565	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6559250	chr9:140783579-140783580	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555153562	chr9:140783605-140783606	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191134845	chr9:140783616-140783617	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540964703	chr9:140783617-140783618	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28495791	chr9:140783632-140783633	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564446646	chr9:140783646-140783647	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6559251	chr9:140783662-140783663	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577550194	chr9:140783671-140783672	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6559252	chr9:140783674-140783675	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563208045	chr9:140783684-140783685	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116578941	chr9:140783725-140783726	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529014016	chr9:140783728-140783729	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549557761	chr9:140783745-140783746	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368890973	chr9:140783746-140783747	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528740799	chr9:140783758-140783759	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371851853	chr9:140783764-140783765	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551775380	chr9:140783802-140783803	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7021447	chr9:140783807-140783808	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571939751	chr9:140783816-140783817	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537025906	chr9:140783818-140783819	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550970916	chr9:140783834-140783835	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567384347	chr9:140783876-140783877	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7042521	chr9:140783892-140783893	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536350921	chr9:140783920-140783921	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34859525	chr9:140783921-140783922	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553100599	chr9:140783960-140783961	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571900656	chr9:140783985-140783986	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534853336	chr9:140784027-140784028	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557748076	chr9:140784039-140784040	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577891382	chr9:140784046-140784047	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543016409	chr9:140784072-140784073	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113322749	chr9:140784078-140784079	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573731799	chr9:140784084-140784085	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375192289	chr9:140784106-140784107	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs542741037	chr9:140784146-140784147	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559528144	chr9:140784151-140784152	Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140773200-140795400	Weak transcription	Right Atrium	heart
2	chr9:140777600-140787200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:140778600-140787000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:140779200-140785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:140780600-140783400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:140781600-140783800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:140782000-140785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:140782400-140784000	Strong transcription	Brain Germinal Matrix	brain
9	chr9:140782800-140783600	Weak transcription	Spleen	Spleen
10	chr9:140783200-140783600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:140783200-140784200	Enhancers	Fetal Thymus	thymus
12	chr9:140783200-140785600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:140783400-140783600	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr9:140783400-140783800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:140783400-140783800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr9:140783600-140783800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr9:140783600-140783800	Bivalent Enhancer	HMEC	breast
18	chr9:140783600-140784000	ZNF genes & repeats	Spleen	Spleen
19	chr9:140783600-140785200	Bivalent Enhancer	Fetal Brain Female	brain
20	chr9:140783800-140785600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:140784000-140784800	Bivalent Enhancer	Brain Germinal Matrix	brain
22	chr9:140784000-140785000	Weak transcription	Spleen	Spleen
23	chr9:140784200-140784400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr9:140784200-140784400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr9:140784800-140786600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:140785000-140785200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
27	chr9:140785000-140785600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:140785000-140785600	ZNF genes & repeats	Spleen	Spleen

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