Variant report

Variant	esv3386842
Chromosome Location	chr3:81861512-81863610
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	chr3:81809486..81811959-chr3:81861253..81863128,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114480	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375979570	chr3:81861547-81861548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145111728	chr3:81861553-81861554	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551155989	chr3:81861574-81861575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376775126	chr3:81861604-81861605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570857760	chr3:81861623-81861624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539878277	chr3:81861649-81861650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529110791	chr3:81861657-81861658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181495980	chr3:81861685-81861686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138892056	chr3:81861690-81861691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554050026	chr3:81861692-81861693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535461248	chr3:81861695-81861696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576575649	chr3:81861709-81861710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116399661	chr3:81861862-81861863	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539136314	chr3:81861889-81861890	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576001522	chr3:81861897-81861898	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79523671	chr3:81861917-81861918	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141496292	chr3:81861950-81861951	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373731244	chr3:81861956-81861957	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs367853737	chr3:81862029-81862030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559968740	chr3:81862079-81862080	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573614894	chr3:81862092-81862093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542204242	chr3:81862169-81862170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575654252	chr3:81862232-81862233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376700314	chr3:81862247-81862248	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541427768	chr3:81862259-81862260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531452649	chr3:81862263-81862264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551168175	chr3:81862264-81862265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4856363	chr3:81862265-81862266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533290463	chr3:81862311-81862312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs377688951	chr3:81862318-81862319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547101172	chr3:81862343-81862344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6785023	chr3:81862355-81862356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562050421	chr3:81862368-81862369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs572226024	chr3:81862381-81862382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566839305	chr3:81862397-81862398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535892839	chr3:81862405-81862406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549250010	chr3:81862429-81862430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541269023	chr3:81862491-81862492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs564266071	chr3:81862514-81862515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533122579	chr3:81862519-81862520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549396123	chr3:81862525-81862526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78389782	chr3:81862534-81862535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201931195	chr3:81862536-81862537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201353980	chr3:81862537-81862538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555715454	chr3:81862540-81862541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200724438	chr3:81862541-81862542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10222412	chr3:81862544-81862545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76814404	chr3:81862545-81862546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200244726	chr3:81862552-81862553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530022221	chr3:81862576-81862577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81852400-81872200	Weak transcription	Left Ventricle	heart
2	chr3:81859000-81864800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:81859200-81864000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:81860200-81865200	Weak transcription	Liver	Liver
5	chr3:81861800-81862000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:81862000-81863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:81862800-81864600	Enhancers	Dnd41	blood
8	chr3:81863400-81863800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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