Variant report

Variant	esv1835828
Chromosome Location	chr3:140542380-140546916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6808549	chr3:140542380-140542381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570766577	chr3:140542391-140542392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367897518	chr3:140542431-140542432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531911717	chr3:140542479-140542480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556544591	chr3:140542558-140542559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183171397	chr3:140542582-140542583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115721133	chr3:140542598-140542599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536082857	chr3:140542606-140542607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187874750	chr3:140542627-140542628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192349611	chr3:140542696-140542697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533736247	chr3:140542703-140542704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558595642	chr3:140542752-140542753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576491998	chr3:140542755-140542756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183392480	chr3:140542766-140542767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187485461	chr3:140542804-140542805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574523056	chr3:140542851-140542852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150722733	chr3:140542862-140542863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs137874663	chr3:140542891-140542892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371561326	chr3:140542900-140542901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527787259	chr3:140542916-140542917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142272406	chr3:140542940-140542941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146388749	chr3:140543005-140543006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531770838	chr3:140543060-140543061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542225219	chr3:140543073-140543074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568765054	chr3:140543126-140543127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192758293	chr3:140543131-140543132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548028600	chr3:140543136-140543137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199894453	chr3:140543139-140543140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566532485	chr3:140543152-140543153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533877712	chr3:140543191-140543192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34630354	chr3:140543203-140543204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558734276	chr3:140543225-140543226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570345214	chr3:140543278-140543279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548893180	chr3:140543412-140543413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377297138	chr3:140543480-140543481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368540158	chr3:140543534-140543535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184652677	chr3:140543539-140543540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189977523	chr3:140543586-140543587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544413469	chr3:140543613-140543614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372174719	chr3:140543634-140543635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192065048	chr3:140543672-140543673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559523041	chr3:140543673-140543674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571953613	chr3:140543688-140543689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377224154	chr3:140543723-140543724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545881447	chr3:140543838-140543839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564272775	chr3:140543848-140543849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139726224	chr3:140543868-140543869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184503969	chr3:140543869-140543870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533343526	chr3:140543872-140543873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562212594	chr3:140543913-140543914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140539800-140542600	Enhancers	HSMMtube	muscle
2	chr3:140540200-140542600	Enhancers	HepG2	liver
3	chr3:140541000-140542400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:140541000-140542400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:140541200-140542600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:140541400-140542400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:140541400-140542400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:140541400-140542600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:140541400-140542600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:140542000-140542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:140542000-140551400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:140542200-140542600	Enhancers	Lung	lung
13	chr3:140542600-140543600	Weak transcription	HepG2	liver
14	chr3:140542800-140546400	Weak transcription	HSMMtube	muscle
15	chr3:140543600-140544200	Enhancers	HepG2	liver
16	chr3:140544200-140547000	Weak transcription	HepG2	liver
17	chr3:140546400-140547200	Enhancers	HSMMtube	muscle

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