Variant report

Variant	esv3427718
Chromosome Location	chr3:109751712-109805923
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	chr3:109762400..109764463-chr3:109767701..109770522,2	K562	blood:
2	chr3:109762400..109764463-chr3:109767701..109770522,2	K562	blood:

Extended variants
information (count: 658 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:658 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370927418	chr3:109781633-109781634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149392890	chr3:109781652-109781653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190992970	chr3:109781673-109781674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547761590	chr3:109781704-109781705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115389245	chr3:109781726-109781727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529688627	chr3:109781747-109781748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2679912	chr3:109781755-109781756	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367643888	chr3:109781758-109781759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569802816	chr3:109781768-109781769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538335136	chr3:109781827-109781828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145446503	chr3:109781831-109781832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386664533	chr3:109781832-109781833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372262149	chr3:109781835-109781836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386664534	chr3:109781836-109781837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200170090	chr3:109781837-109781838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2399290	chr3:109781838-109781839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375167024	chr3:109781840-109781841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2895363	chr3:109781843-109781844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565727249	chr3:109781844-109781845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534926587	chr3:109781847-109781848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201844287	chr3:109781868-109781869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199988797	chr3:109781869-109781870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398106302	chr3:109781874-109781875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2679913	chr3:109781877-109781878	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374518432	chr3:109781879-109781880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573718453	chr3:109781895-109781896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542577661	chr3:109781935-109781936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556121616	chr3:109782002-109782003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576154219	chr3:109782014-109782015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181435983	chr3:109782016-109782017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545165998	chr3:109782086-109782087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565512776	chr3:109782090-109782091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374002600	chr3:109782099-109782100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541735075	chr3:109782108-109782109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539914055	chr3:109782158-109782159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530404175	chr3:109782248-109782249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74385941	chr3:109782310-109782311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376882929	chr3:109782409-109782410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532274476	chr3:109782440-109782441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148636399	chr3:109782457-109782458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114768299	chr3:109782469-109782470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560298651	chr3:109782484-109782485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531056530	chr3:109782491-109782492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554457802	chr3:109782495-109782496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368798173	chr3:109782499-109782500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568046993	chr3:109782503-109782504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141557095	chr3:109782517-109782518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146177496	chr3:109782527-109782528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576346204	chr3:109782563-109782564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76738715	chr3:109782587-109782588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109781600-109782000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:109782000-109786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:109785000-109787000	Enhancers	Fetal Heart	heart
4	chr3:109785200-109785400	Enhancers	HSMMtube	muscle
5	chr3:109785200-109786600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:109785600-109786600	Weak transcription	HSMMtube	muscle
7	chr3:109785600-109787200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:109786600-109787000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:109786600-109787000	Enhancers	HSMMtube	muscle
10	chr3:109786600-109787200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:109786600-109788000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:109786800-109787000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:109787000-109787600	Weak transcription	HSMMtube	muscle
14	chr3:109787000-109788200	Weak transcription	Fetal Heart	heart
15	chr3:109787000-109788400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:109787200-109788800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr3:109788000-109790200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr3:109788200-109788800	Enhancers	Fetal Heart	heart
19	chr3:109788400-109788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:109788400-109789200	Enhancers	HMEC	breast
21	chr3:109788400-109789800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:109788400-109790400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:109788600-109789400	Enhancers	NH-A	brain
24	chr3:109788600-109790200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:109788800-109789000	Flanking Active TSS	Fetal Heart	heart
26	chr3:109788800-109789000	Enhancers	HSMMtube	muscle
27	chr3:109788800-109789200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr3:109788800-109790800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:109789000-109789200	Enhancers	Fetal Heart	heart
30	chr3:109789000-109789200	Enhancers	Ovary	ovary
31	chr3:109789000-109789800	Enhancers	Stomach Mucosa	stomach
32	chr3:109789200-109789400	Flanking Active TSS	Fetal Heart	heart
33	chr3:109789400-109789800	Weak transcription	NH-A	brain
34	chr3:109789400-109790200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:109789400-109790600	Enhancers	Fetal Heart	heart
36	chr3:109789800-109790200	Enhancers	NH-A	brain
37	chr3:109790000-109790200	Enhancers	Ovary	ovary
38	chr3:109790000-109790400	Enhancers	Left Ventricle	heart
39	chr3:109790200-109794800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:109790400-109790800	Weak transcription	Left Ventricle	heart
41	chr3:109790600-109791600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr3:109790800-109791400	Enhancers	Left Ventricle	heart
43	chr3:109791000-109791600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr3:109791000-109791600	Enhancers	Lung	lung
45	chr3:109794800-109795600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:109803000-109811600	Weak transcription	Aorta	Aorta

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