Variant report

Variant	esv3359134
Chromosome Location	chr3:136812312-136815810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139973343	chr3:136812434-136812435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111429566	chr3:136812455-136812456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548365976	chr3:136812468-136812469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370700308	chr3:136812502-136812503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551185937	chr3:136812514-136812515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184597098	chr3:136812601-136812602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531065917	chr3:136812647-136812648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376266046	chr3:136812668-136812669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373957492	chr3:136812669-136812670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142730009	chr3:136812672-136812673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550556578	chr3:136812677-136812678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374025419	chr3:136812683-136812684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538476354	chr3:136812684-136812685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569377750	chr3:136812696-136812697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13091927	chr3:136812704-136812705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10690648	chr3:136812712-136812713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200022980	chr3:136812721-136812722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199810919	chr3:136812725-136812726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61339459	chr3:136812726-136812727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202131631	chr3:136812727-136812728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200291019	chr3:136812728-136812729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201454632	chr3:136812730-136812731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12496725	chr3:136812738-136812739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112253717	chr3:136812801-136812802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531700049	chr3:136812817-136812818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564668219	chr3:136812832-136812833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375982587	chr3:136812836-136812837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539539656	chr3:136812862-136812863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7627832	chr3:136812951-136812952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11928950	chr3:136813131-136813132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111597007	chr3:136813165-136813166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372975114	chr3:136813228-136813229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201446146	chr3:136813438-136813439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199724017	chr3:136813447-136813448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113814671	chr3:136813537-136813538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201888276	chr3:136813555-136813556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199502745	chr3:136813806-136813807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200583544	chr3:136814049-136814050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10935218	chr3:136814320-136814321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113490856	chr3:136814338-136814339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62408927	chr3:136814412-136814413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376116280	chr3:136814434-136814435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368142461	chr3:136814480-136814481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566556652	chr3:136814556-136814557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11914734	chr3:136814557-136814558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373413110	chr3:136814611-136814612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11926161	chr3:136814638-136814639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10935219	chr3:136814668-136814669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10935220	chr3:136814687-136814688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374355942	chr3:136814701-136814702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Cancer	21129771	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
Intracranial aneurysm	16715129	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136798400-136821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:136806000-136827800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:136811200-136816400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:136815000-136815200	Enhancers	Fetal Muscle Leg	muscle
5	chr3:136815000-136815200	Enhancers	Psoas Muscle	Psoas
6	chr3:136815000-136816000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:136815200-136815400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:136815200-136816000	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:136815200-136821200	Weak transcription	Psoas Muscle	Psoas
10	chr3:136815600-136816600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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