Variant report

Variant	esv3429486
Chromosome Location	chr3:75140311-75163908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532358846	chr3:75146801-75146802	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547242234	chr3:75146813-75146814	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374581130	chr3:75146821-75146822	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368046605	chr3:75146838-75146839	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569609952	chr3:75146845-75146846	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549488676	chr3:75146848-75146849	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4677453	chr3:75146860-75146861	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538217981	chr3:75146871-75146872	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373432231	chr3:75146895-75146896	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34476863	chr3:75146909-75146910	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4677455	chr3:75146910-75146911	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6772617	chr3:75146927-75146928	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112100290	chr3:75146959-75146960	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373405357	chr3:75146973-75146974	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189818583	chr3:75146977-75146978	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572600373	chr3:75146984-75146985	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376384806	chr3:75146998-75146999	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535985398	chr3:75147001-75147002	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142535414	chr3:75147010-75147011	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4677456	chr3:75147011-75147012	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141116121	chr3:75147027-75147028	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564851931	chr3:75147035-75147036	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146718261	chr3:75147043-75147044	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373221799	chr3:75147061-75147062	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534050143	chr3:75147073-75147074	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4677457	chr3:75147093-75147094	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529883360	chr3:75147094-75147095	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554211186	chr3:75147096-75147097	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182399069	chr3:75147103-75147104	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561336415	chr3:75147113-75147114	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531751967	chr3:75147128-75147129	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550156917	chr3:75147129-75147130	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4677458	chr3:75147155-75147156	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147051081	chr3:75147158-75147159	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114564182	chr3:75147177-75147178	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566180066	chr3:75147195-75147196	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536425977	chr3:75147201-75147202	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554266049	chr3:75147211-75147212	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138394261	chr3:75147256-75147257	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536658846	chr3:75147285-75147286	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112084534	chr3:75147338-75147339	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142565922	chr3:75147339-75147340	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138166172	chr3:75147346-75147347	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62260960	chr3:75147358-75147359	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9839866	chr3:75147360-75147361	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562535768	chr3:75147362-75147363	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141114669	chr3:75147365-75147366	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77928188	chr3:75147374-75147375	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59523844	chr3:75147375-75147376	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541001292	chr3:75147376-75147377	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75146800-75147200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr3:75146800-75147400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:75146800-75147400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:75146800-75150400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:75147000-75147200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:75147200-75151000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:75147400-75148000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:75148200-75148400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr3:75148600-75150800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:75150400-75151200	Enhancers	HMEC	breast
11	chr3:75150400-75151400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:75150400-75151400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:75150400-75151600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:75150400-75151600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:75150600-75151400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:75150600-75151400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:75150600-75151400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:75150600-75151400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:75150600-75151600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:75150600-75151600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:75150800-75151000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:75150800-75151000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr3:75150800-75151000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr3:75150800-75151200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:75150800-75151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:75150800-75151200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:75151000-75151200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr3:75151000-75151200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:75151000-75151400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr3:75151000-75151400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr3:75151000-75151400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr3:75151000-75151400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:75151000-75151400	Active TSS	Brain Hippocampus Middle	brain
34	chr3:75151000-75151400	Enhancers	Fetal Intestine Large	intestine
35	chr3:75151000-75151400	Enhancers	Fetal Intestine Small	intestine
36	chr3:75151200-75151400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr3:75151200-75151600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:75151200-75151600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:75151400-75151600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:75151400-75151800	Enhancers	HUES64 Cell Line	embryonic stem cell

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