Variant report

Variant	esv3392741
Chromosome Location	chr3:139053612-139056710
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	chr3:139055985..139057800-chr3:139059235..139061207,2	K562	blood:
2	chr3:138552766..138554683-chr3:139056672..139058862,2	K562	blood:

Variant related genes	Relation type
ENSG00000051382	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539658945	chr3:139053616-139053617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553020982	chr3:139053643-139053644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566936922	chr3:139053710-139053711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535611186	chr3:139053712-139053713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555722883	chr3:139053713-139053714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77832300	chr3:139053766-139053767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376278720	chr3:139053811-139053812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544474851	chr3:139053825-139053826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558096667	chr3:139053840-139053841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577880025	chr3:139053893-139053894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540456241	chr3:139053972-139053973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560421283	chr3:139054008-139054009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202137269	chr3:139054010-139054011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543732874	chr3:139054030-139054031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370320256	chr3:139054071-139054072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562454735	chr3:139054089-139054090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531216280	chr3:139054171-139054172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550828652	chr3:139054175-139054176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570830045	chr3:139054205-139054206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533473517	chr3:139054207-139054208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144069736	chr3:139054233-139054234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566996245	chr3:139054283-139054284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535942327	chr3:139054300-139054301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555582914	chr3:139054639-139054640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36177608	chr3:139054669-139054670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538260959	chr3:139054670-139054671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202050881	chr3:139054714-139054715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201329345	chr3:139054795-139054796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112514783	chr3:139054821-139054822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113322226	chr3:139054848-139054849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201731882	chr3:139055001-139055002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113330455	chr3:139055041-139055042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200387623	chr3:139055049-139055050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9790232	chr3:139055471-139055472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9790059	chr3:139055472-139055473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577984326	chr3:139055580-139055581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539586156	chr3:139055611-139055612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561208625	chr3:139055628-139055629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59433766	chr3:139055629-139055630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534120159	chr3:139055685-139055686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190668370	chr3:139055688-139055689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573754921	chr3:139055698-139055699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79267432	chr3:139055726-139055727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546234530	chr3:139055738-139055739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544235335	chr3:139055831-139055832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150545890	chr3:139055848-139055849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386666333	chr3:139055850-139055851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113927111	chr3:139055868-139055869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575963412	chr3:139055876-139055877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572570951	chr3:139055917-139055918	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
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
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139048200-139062400	Weak transcription	Right Atrium	heart
2	chr3:139051400-139056000	Weak transcription	K562	blood
3	chr3:139056000-139057800	Enhancers	K562	blood

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