Variant report

Variant	esv3348506
Chromosome Location	chr3:140543262-140548160
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570345214	chr3:140543278-140543279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548893180	chr3:140543412-140543413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377297138	chr3:140543480-140543481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368540158	chr3:140543534-140543535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184652677	chr3:140543539-140543540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189977523	chr3:140543586-140543587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544413469	chr3:140543613-140543614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372174719	chr3:140543634-140543635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192065048	chr3:140543672-140543673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559523041	chr3:140543673-140543674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571953613	chr3:140543688-140543689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377224154	chr3:140543723-140543724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545881447	chr3:140543838-140543839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564272775	chr3:140543848-140543849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139726224	chr3:140543868-140543869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184503969	chr3:140543869-140543870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533343526	chr3:140543872-140543873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562212594	chr3:140543913-140543914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188953561	chr3:140543954-140543955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78658024	chr3:140543965-140543966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559987287	chr3:140543970-140543971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560366503	chr3:140543975-140543976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564055238	chr3:140544002-140544003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529301916	chr3:140544026-140544027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533608186	chr3:140544036-140544037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552279122	chr3:140544042-140544043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375557075	chr3:140544063-140544064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181760464	chr3:140544137-140544138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545475027	chr3:140544210-140544211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549077882	chr3:140544217-140544218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75096342	chr3:140544225-140544226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144318307	chr3:140544371-140544372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202000558	chr3:140544409-140544410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184768133	chr3:140544528-140544529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77004671	chr3:140544570-140544571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531595422	chr3:140544615-140544616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189067217	chr3:140544689-140544690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557945300	chr3:140544691-140544692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148748575	chr3:140544718-140544719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369114972	chr3:140544774-140544775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79895879	chr3:140544797-140544798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552819084	chr3:140544863-140544864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151255941	chr3:140544864-140544865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140438804	chr3:140544892-140544893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145319130	chr3:140545034-140545035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181018111	chr3:140545090-140545091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563984996	chr3:140545091-140545092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531438848	chr3:140545125-140545126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549655339	chr3:140545154-140545155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13062614	chr3:140545222-140545223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140542000-140551400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:140542600-140543600	Weak transcription	HepG2	liver
3	chr3:140542800-140546400	Weak transcription	HSMMtube	muscle
4	chr3:140543600-140544200	Enhancers	HepG2	liver
5	chr3:140544200-140547000	Weak transcription	HepG2	liver
6	chr3:140546400-140547200	Enhancers	HSMMtube	muscle
7	chr3:140547000-140548400	Enhancers	HepG2	liver
8	chr3:140547200-140547400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain

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