Variant report

Variant	esv21066
Chromosome Location	chr3:116098946-116109977
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	chr3:115858694..115859203-chr3:116105156..116105712,2	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550123157	chr3:116098948-116098949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562860458	chr3:116099002-116099003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530303967	chr3:116099022-116099023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144274411	chr3:116099028-116099029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375910457	chr3:116099029-116099030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17647013	chr3:116099041-116099042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192608642	chr3:116099061-116099062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552687213	chr3:116099193-116099194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571137352	chr3:116099231-116099232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570810829	chr3:116099348-116099349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538252499	chr3:116099386-116099387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556561457	chr3:116099428-116099429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575630742	chr3:116099453-116099454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373413760	chr3:116099458-116099459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184895914	chr3:116099513-116099514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7619749	chr3:116099645-116099646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538558782	chr3:116099654-116099655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558524612	chr3:116099665-116099666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573032166	chr3:116099674-116099675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151206809	chr3:116099746-116099747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564993501	chr3:116099758-116099759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1118683	chr3:116099778-116099779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78851175	chr3:116099794-116099795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572356652	chr3:116099803-116099804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562174678	chr3:116099872-116099873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529628720	chr3:116099921-116099922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548905920	chr3:116099959-116099960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534632440	chr3:116099963-116099964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560620899	chr3:116099965-116099966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527889682	chr3:116099977-116099978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34080716	chr3:116099986-116099987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552453978	chr3:116099998-116099999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34621283	chr3:116100038-116100039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570940051	chr3:116100057-116100058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538313773	chr3:116100117-116100118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75152285	chr3:116100120-116100121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140295221	chr3:116100164-116100165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189755474	chr3:116100203-116100204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192147385	chr3:116100220-116100221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572117013	chr3:116100242-116100243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534010595	chr3:116100256-116100257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372842444	chr3:116100296-116100297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558442139	chr3:116100309-116100310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554602142	chr3:116100319-116100320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34527242	chr3:116100347-116100348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534693926	chr3:116100380-116100381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184647794	chr3:116100383-116100384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574628202	chr3:116100410-116100411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543938211	chr3:116100435-116100436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555832113	chr3:116100530-116100531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116096400-116108000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:116102000-116102800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:116102200-116104200	Enhancers	Brain Substantia Nigra	brain
4	chr3:116102600-116103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:116102600-116103000	Enhancers	Fetal Lung	lung
6	chr3:116102600-116103200	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:116102600-116103600	Enhancers	Brain Hippocampus Middle	brain
8	chr3:116102600-116103800	Enhancers	Brain Germinal Matrix	brain
9	chr3:116102600-116104400	Enhancers	Brain Anterior Caudate	brain
10	chr3:116102800-116103000	Enhancers	Fetal Brain Male	brain
11	chr3:116102800-116103200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:116102800-116103800	Enhancers	Brain Angular Gyrus	brain
13	chr3:116102800-116103800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:116102800-116104200	Enhancers	Colon Smooth Muscle	Colon
15	chr3:116103000-116103400	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr3:116103000-116107400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:116103000-116107400	Weak transcription	Fetal Brain Male	brain
18	chr3:116103000-116142000	Weak transcription	Fetal Lung	lung
19	chr3:116103200-116103600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:116103400-116103800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:116103600-116103800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr3:116103600-116107200	Weak transcription	Brain Hippocampus Middle	brain
23	chr3:116103800-116104200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:116103800-116104600	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:116103800-116107400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:116103800-116107600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:116103800-116107600	Weak transcription	Brain Angular Gyrus	brain
28	chr3:116103800-116110600	Weak transcription	Brain Germinal Matrix	brain
29	chr3:116104200-116104400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr3:116104200-116107400	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:116104200-116107600	Weak transcription	Brain Substantia Nigra	brain
32	chr3:116104400-116107600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:116104400-116107600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:116104600-116107000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:116105000-116110200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:116107000-116108200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:116107000-116108600	Enhancers	Brain Cingulate Gyrus	brain
38	chr3:116107000-116109000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr3:116107000-116109600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:116107200-116108600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr3:116107200-116108600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr3:116107200-116108600	Enhancers	Brain Hippocampus Middle	brain
43	chr3:116107200-116109800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:116107200-116109800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:116107400-116108000	Enhancers	Fetal Brain Male	brain
46	chr3:116107400-116108000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr3:116107400-116108400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr3:116107400-116109200	Enhancers	Colon Smooth Muscle	Colon
49	chr3:116107400-116110000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:116107600-116108000	Enhancers	Brain Angular Gyrus	brain

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