Variant report

Variant	esv2762351
Chromosome Location	chr3:157338661-157341682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:157338080..157340349-chr3:157341283..157344267,3	K562	blood:
2	chr3:157333608..157336028-chr3:157339790..157343103,3	MCF-7	breast:
3	chr3:157338004..157341097-chr3:157342767..157346033,3	K562	blood:
4	chr3:157338817..157341754-chr3:157350629..157353502,2	K562	blood:
5	chr3:157338817..157342476-chr3:157350629..157354187,3	K562	blood:
6	chr3:157338080..157340349-chr3:157341283..157344267,3	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16827957	chr3:157338661-157338662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375298560	chr3:157338687-157338688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548914218	chr3:157338715-157338716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528264904	chr3:157338748-157338749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560825742	chr3:157338771-157338772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77907799	chr3:157338808-157338809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571139003	chr3:157338809-157338810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373997253	chr3:157338814-157338815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369288083	chr3:157338819-157338820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149601827	chr3:157338884-157338885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547306714	chr3:157338888-157338889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565613096	chr3:157338912-157338913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144349004	chr3:157339001-157339002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571409691	chr3:157339010-157339011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146208291	chr3:157339022-157339023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112421173	chr3:157339036-157339037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573944273	chr3:157339041-157339042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550667884	chr3:157339075-157339076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112265015	chr3:157339097-157339098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369362957	chr3:157339179-157339180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538384761	chr3:157339195-157339196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71626425	chr3:157339221-157339222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536676075	chr3:157339239-157339240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556679073	chr3:157339244-157339245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115021873	chr3:157339321-157339322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545590835	chr3:157339335-157339336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371989211	chr3:157339340-157339341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73876346	chr3:157339369-157339370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11709879	chr3:157339389-157339390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs180896530	chr3:157339463-157339464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115468004	chr3:157339597-157339598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554571210	chr3:157339612-157339613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373758948	chr3:157339613-157339614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71993306	chr3:157339619-157339620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560983940	chr3:157339621-157339622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577355824	chr3:157339625-157339626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397796962	chr3:157339630-157339631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376902148	chr3:157339632-157339633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183468766	chr3:157339638-157339639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142326623	chr3:157339641-157339642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188147418	chr3:157339646-157339647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13061720	chr3:157339655-157339656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13081716	chr3:157339663-157339664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367565496	chr3:157339667-157339668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556262937	chr3:157339695-157339696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13081572	chr3:157339702-157339703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114569199	chr3:157339704-157339705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13082046	chr3:157339714-157339715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs13061753	chr3:157339723-157339724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6782881	chr3:157339725-157339726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157338200-157342400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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