Variant report

Variant	esv3525376
Chromosome Location	chr3:34118998-34121296
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36079712	chr3:34119003-34119004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193021820	chr3:34119066-34119067	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532512779	chr3:34119086-34119087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs551024133	chr3:34119119-34119120	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529793768	chr3:34119123-34119124	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562872168	chr3:34119125-34119126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs75703249	chr3:34119139-34119140	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs548601161	chr3:34119149-34119150	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs567595530	chr3:34119161-34119162	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144148555	chr3:34119313-34119314	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546495738	chr3:34119355-34119356	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9311044	chr3:34119403-34119404	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs138887578	chr3:34119468-34119469	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111961868	chr3:34119473-34119474	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9834233	chr3:34119511-34119512	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs147345443	chr3:34119515-34119516	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185650928	chr3:34119523-34119524	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554120438	chr3:34119542-34119543	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs77767571	chr3:34119556-34119557	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540886367	chr3:34119585-34119586	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139591849	chr3:34119601-34119602	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs368555381	chr3:34119613-34119614	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116132278	chr3:34119626-34119627	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544471838	chr3:34119630-34119631	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs551677524	chr3:34119631-34119632	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs571874695	chr3:34119637-34119638	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370169749	chr3:34119703-34119704	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542278658	chr3:34119781-34119782	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142556187	chr3:34119809-34119810	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs528400869	chr3:34119896-34119897	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190498178	chr3:34119902-34119903	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs571364039	chr3:34119910-34119911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532375571	chr3:34120003-34120004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181771161	chr3:34120009-34120010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534489254	chr3:34120051-34120052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374934972	chr3:34120071-34120072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367994905	chr3:34120097-34120098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553919285	chr3:34120104-34120105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9852942	chr3:34120142-34120143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536747381	chr3:34120143-34120144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150676880	chr3:34120186-34120187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139876023	chr3:34120209-34120210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534227461	chr3:34120224-34120225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9835388	chr3:34120226-34120227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115744377	chr3:34120318-34120319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544848673	chr3:34120326-34120327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537527728	chr3:34120331-34120332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116627210	chr3:34120332-34120333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575001843	chr3:34120381-34120382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542317734	chr3:34120428-34120429	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34111000-34119000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:34114400-34119200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:34114800-34119200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:34115000-34119000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:34115400-34119200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:34115600-34119000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:34115800-34119200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:34115800-34120200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:34115800-34120400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:34116000-34120200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:34117000-34119000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:34118600-34119200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:34118800-34119000	Enhancers	GM12878-XiMat	blood
14	chr3:34119000-34119200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:34119000-34119200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:34119000-34119200	Enhancers	Fetal Brain Female	brain
17	chr3:34119000-34119400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:34119000-34119800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:34119000-34119800	Flanking Active TSS	GM12878-XiMat	blood
20	chr3:34119000-34120200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:34119000-34120600	Enhancers	Fetal Brain Male	brain
22	chr3:34119200-34119400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:34119200-34119400	Active TSS	Brain Anterior Caudate	brain
24	chr3:34119200-34119400	Enhancers	Brain Substantia Nigra	brain
25	chr3:34119200-34119600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:34119200-34119600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:34119200-34119600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:34119200-34119600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr3:34119200-34119800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:34119200-34119800	Active TSS	Brain Germinal Matrix	brain
31	chr3:34119200-34119800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:34119200-34120000	Flanking Active TSS	Fetal Brain Female	brain
33	chr3:34119200-34120400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:34119400-34119600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:34119400-34119600	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr3:34119400-34119600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:34119400-34119800	Active TSS	Brain Angular Gyrus	brain
38	chr3:34119400-34119800	Active TSS	Brain Cingulate Gyrus	brain
39	chr3:34119400-34120400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:34119600-34120600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:34119800-34120400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:34119800-34120600	Enhancers	GM12878-XiMat	blood
43	chr3:34120000-34120200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:34120000-34120200	Enhancers	Fetal Brain Female	brain
45	chr3:34120000-34120400	Enhancers	Brain Germinal Matrix	brain
46	chr3:34120200-34120800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:34120200-34121200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr3:34120400-34120600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr3:34120400-34121000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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