Variant report

Variant	esv2608601
Chromosome Location	chr3:48251783-48256238
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	chr3:48255769..48258567-chr3:48261037..48262599,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559788036	chr3:48251789-48251790	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530074763	chr3:48251834-48251835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549274468	chr3:48251867-48251868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560996547	chr3:48251877-48251878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574187231	chr3:48251878-48251879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531560869	chr3:48251943-48251944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192510652	chr3:48251958-48251959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144066916	chr3:48252000-48252001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200697769	chr3:48252051-48252052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547052411	chr3:48252121-48252122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9832529	chr3:48252176-48252177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9869759	chr3:48252183-48252184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9832262	chr3:48252184-48252185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372943314	chr3:48252327-48252328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375623838	chr3:48252460-48252461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370219664	chr3:48252638-48252639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374433940	chr3:48252733-48252734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377518445	chr3:48252916-48252917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7643776	chr3:48252993-48252994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371223978	chr3:48253113-48253114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7621097	chr3:48253152-48253153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7643958	chr3:48253184-48253185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7621275	chr3:48253287-48253288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7644057	chr3:48253332-48253333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7623556	chr3:48253409-48253410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7623644	chr3:48253466-48253467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7623649	chr3:48253484-48253485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368355912	chr3:48253663-48253664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371927023	chr3:48253668-48253669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528362060	chr3:48253674-48253675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548536526	chr3:48253687-48253688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368425177	chr3:48253716-48253717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568237313	chr3:48253757-48253758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7616238	chr3:48253812-48253813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7623962	chr3:48253819-48253820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6772529	chr3:48254580-48254581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6769926	chr3:48254599-48254600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6772766	chr3:48254799-48254800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371882435	chr3:48254833-48254834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111863406	chr3:48254902-48254903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112302784	chr3:48254903-48254904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78141350	chr3:48254996-48254997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375675577	chr3:48254997-48254998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565354243	chr3:48255026-48255027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551627294	chr3:48255093-48255094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535819779	chr3:48255148-48255149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553951441	chr3:48255183-48255184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11715799	chr3:48255220-48255221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs576647720	chr3:48255233-48255234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537692830	chr3:48255246-48255247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48248400-48255800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:48250800-48251800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:48251000-48252000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:48251200-48256400	Weak transcription	Lung	lung
5	chr3:48251600-48251800	Enhancers	HepG2	liver
6	chr3:48251600-48255800	Weak transcription	Spleen	Spleen
7	chr3:48251800-48255000	Weak transcription	HepG2	liver
8	chr3:48251800-48264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:48255000-48256400	Enhancers	HepG2	liver
10	chr3:48255800-48256000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:48255800-48256000	Enhancers	Stomach Smooth Muscle	stomach
12	chr3:48255800-48258200	Enhancers	Gastric	stomach
13	chr3:48255800-48258400	Enhancers	Right Atrium	heart
14	chr3:48255800-48259400	Enhancers	Pancreas	Pancrea
15	chr3:48255800-48260000	Enhancers	Spleen	Spleen
16	chr3:48255800-48261600	Enhancers	Adipose Nuclei	Adipose
17	chr3:48256000-48256400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:48256000-48256800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:48256000-48258400	Enhancers	Fetal Lung	lung
20	chr3:48256200-48258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:48256200-48258000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:48256200-48258200	Enhancers	Left Ventricle	heart
23	chr3:48256200-48261600	Enhancers	Ovary	ovary

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