Variant report

Variant	esv3444457
Chromosome Location	chr3:115715862-115717810
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	chr3:115714015..115716158-chr3:115718030..115720877,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573391361	chr3:115715923-115715924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574556887	chr3:115715956-115715957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142261079	chr3:115715983-115715984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60065181	chr3:115716005-115716006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115264017	chr3:115716007-115716008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544182989	chr3:115716052-115716053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186668402	chr3:115716079-115716080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115877730	chr3:115716082-115716083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372878612	chr3:115716088-115716089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145800161	chr3:115716136-115716137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35764849	chr3:115716166-115716167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528304649	chr3:115716170-115716171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565321155	chr3:115716286-115716287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369246925	chr3:115716288-115716289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113524428	chr3:115716340-115716341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538775630	chr3:115716383-115716384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556989359	chr3:115716490-115716491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568922009	chr3:115716509-115716510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78520200	chr3:115716528-115716529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555256666	chr3:115716547-115716548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573326951	chr3:115716548-115716549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540796612	chr3:115716552-115716553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376845636	chr3:115716561-115716562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192811386	chr3:115716584-115716585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182961410	chr3:115716586-115716587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188402881	chr3:115716588-115716589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192865294	chr3:115716594-115716595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184627083	chr3:115716598-115716599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189336615	chr3:115716600-115716601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141273214	chr3:115716616-115716617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576779100	chr3:115716623-115716624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576915515	chr3:115716684-115716685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528259987	chr3:115716686-115716687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9833319	chr3:115716719-115716720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530710884	chr3:115716731-115716732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192555422	chr3:115716790-115716791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563711634	chr3:115716802-115716803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562495008	chr3:115716805-115716806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13086615	chr3:115716816-115716817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs183599504	chr3:115716863-115716864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116521913	chr3:115716924-115716925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34973901	chr3:115716945-115716946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78677265	chr3:115716985-115716986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74921086	chr3:115716993-115716994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4378955	chr3:115717121-115717122	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188268775	chr3:115717123-115717124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371565151	chr3:115717218-115717219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530305134	chr3:115717228-115717229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146960118	chr3:115717245-115717246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs207463566	chr3:115717330-115717331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115709600-115718000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:115709600-115718000	Weak transcription	HSMM	muscle
3	chr3:115709800-115717800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:115710000-115717800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:115710800-115718000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:115713400-115717400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:115714000-115717200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:115715200-115716200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr3:115715400-115716200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:115715400-115716400	Enhancers	NH-A	brain
11	chr3:115715400-115716400	Enhancers	Osteobl	bone
12	chr3:115715600-115716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:115715800-115716000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:115715800-115716000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:115716000-115717600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:115716000-115717800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:115716000-115718400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:115716200-115718000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:115716200-115718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:115716400-115718000	Weak transcription	NH-A	brain
21	chr3:115716400-115718200	Weak transcription	Osteobl	bone
22	chr3:115717000-115717600	Enhancers	Brain Hippocampus Middle	brain
23	chr3:115717000-115718800	Enhancers	Brain Angular Gyrus	brain
24	chr3:115717200-115717600	Enhancers	Brain Cingulate Gyrus	brain
25	chr3:115717200-115719000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:115717200-115719600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:115717400-115720400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:115717600-115717800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:115717600-115717800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr3:115717600-115717800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:115717600-115717800	Enhancers	Brain Substantia Nigra	brain
32	chr3:115717600-115717800	Enhancers	Fetal Brain Male	brain
33	chr3:115717600-115718000	Active TSS	Brain Cingulate Gyrus	brain
34	chr3:115717600-115718200	Active TSS	Brain Anterior Caudate	brain
35	chr3:115717600-115718800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:115717800-115718000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:115717800-115718000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr3:115717800-115718000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:115717800-115718200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:115717800-115718200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:115717800-115718400	Active TSS	Brain Hippocampus Middle	brain
42	chr3:115717800-115718400	Active TSS	Brain Substantia Nigra	brain
43	chr3:115717800-115718600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:115717800-115718600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:115717800-115718800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr3:115717800-115718800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:115717800-115719000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr3:115717800-115719000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr3:115717800-115719200	Enhancers	NHDF-Ad	bronchial
50	chr3:115717800-115719400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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