Variant report

Variant	esv1843526
Chromosome Location	chr3:99923302-99924774
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	chr2:201727914..201730081-chr3:99923240..99926220,2	MCF-7	breast:
2	chr11:2052488..2053195-chr3:99924648..99925466,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252759	chromatin interactions
ENSG00000013441	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140240171	chr3:99923304-99923305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs555313861	chr3:99923417-99923418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573656591	chr3:99923429-99923430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546816405	chr3:99923444-99923445	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191949333	chr3:99923474-99923475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577413555	chr3:99923551-99923552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183755273	chr3:99923559-99923560	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188333503	chr3:99923574-99923575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs560002321	chr3:99923608-99923609	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs571978006	chr3:99923633-99923634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542679554	chr3:99923685-99923686	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561290620	chr3:99923707-99923708	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566956816	chr3:99923714-99923715	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs531750884	chr3:99923742-99923743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149637636	chr3:99923748-99923749	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144367599	chr3:99923762-99923763	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532733536	chr3:99923777-99923778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542747883	chr3:99923841-99923842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368955073	chr3:99923884-99923885	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148770739	chr3:99923888-99923889	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192369939	chr3:99923903-99923904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs1950080	chr3:99923933-99923934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373350190	chr3:99923971-99923972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs555203513	chr3:99923987-99923988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs529325145	chr3:99923998-99923999	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs113663609	chr3:99924002-99924003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs142387365	chr3:99924006-99924007	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs537413084	chr3:99924016-99924017	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567384190	chr3:99924029-99924030	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs185776803	chr3:99924070-99924071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146820368	chr3:99924074-99924075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34692245	chr3:99924162-99924163	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559120440	chr3:99924166-99924167	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139601273	chr3:99924185-99924186	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144239570	chr3:99924222-99924223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs554710458	chr3:99924251-99924252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576361456	chr3:99924283-99924284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs79147820	chr3:99924320-99924321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571493371	chr3:99924330-99924331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs549177272	chr3:99924390-99924391	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373753254	chr3:99924406-99924407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146544795	chr3:99924476-99924477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113381478	chr3:99924479-99924480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189855876	chr3:99924539-99924540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs530368753	chr3:99924581-99924582	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181776114	chr3:99924622-99924623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186894668	chr3:99924646-99924647	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs13069862	chr3:99924650-99924651	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs188527133	chr3:99924677-99924678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs16841990	chr3:99924717-99924718	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99917600-99928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:99917800-99933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:99923000-99928000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:99924000-99924400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:99924200-99924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:99924400-99928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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