Variant report

Variant	esv3481791
Chromosome Location	chr9:140735548-140736821
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	chr9:140732797..140735433-chr9:140735710..140738705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207693	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138171336	chr9:140735548-140735549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540212997	chr9:140735553-140735554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572534412	chr9:140735564-140735565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111235332	chr9:140735575-140735576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113071901	chr9:140735579-140735580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75064953	chr9:140735583-140735584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560249618	chr9:140735584-140735585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181328027	chr9:140735589-140735590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148778893	chr9:140735597-140735598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202235850	chr9:140735598-140735599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs67251483	chr9:140735600-140735601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113067439	chr9:140735609-140735610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs151286352	chr9:140735621-140735622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574223185	chr9:140735626-140735627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545729084	chr9:140735634-140735635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562704330	chr9:140735639-140735640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373351632	chr9:140735651-140735652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113170612	chr9:140735659-140735660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111862604	chr9:140735664-140735665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561934687	chr9:140735678-140735679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527312374	chr9:140735684-140735685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543221539	chr9:140735696-140735697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559677182	chr9:140735698-140735699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547400316	chr9:140735711-140735712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373200441	chr9:140735716-140735717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570601481	chr9:140735730-140735731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533043433	chr9:140735750-140735751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376334454	chr9:140735793-140735794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547514237	chr9:140735813-140735814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532968591	chr9:140735816-140735817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549753598	chr9:140735818-140735819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs569958981	chr9:140735819-140735820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371054928	chr9:140735845-140735846	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569449365	chr9:140735860-140735861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373553654	chr9:140735865-140735866	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554872909	chr9:140735877-140735878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568401375	chr9:140735889-140735890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs533974898	chr9:140735896-140735897	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376447191	chr9:140735909-140735910	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553749244	chr9:140735915-140735916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs577114312	chr9:140735921-140735922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs546285419	chr9:140735927-140735928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577667628	chr9:140735936-140735937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556346240	chr9:140735947-140735948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576204806	chr9:140735954-140735955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370628115	chr9:140735979-140735980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112042420	chr9:140736117-140736118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111794250	chr9:140736122-140736123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs113427360	chr9:140736169-140736170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111679698	chr9:140736219-140736220	Weak transcription	Chromatin interactive region	1 gene(s)	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140713000-140747200	Weak transcription	Stomach Mucosa	stomach
2	chr9:140730200-140736800	Weak transcription	HSMMtube	muscle
3	chr9:140731200-140735600	Weak transcription	Small Intestine	intestine
4	chr9:140731600-140735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:140732000-140741200	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:140733200-140735600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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