Variant report

Variant	esv3448744
Chromosome Location	chr3:142912190-142914326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142914308..142916627-chr3:142918947..142921480,2	K562	blood:
2	chr3:142908825..142914026-chr3:142914356..142919906,7	K562	blood:
3	chr3:142901683..142905677-chr3:142909688..142913196,5	K562	blood:
4	chr3:142910443..142912503-chr3:142926393..142928620,2	K562	blood:
5	chr3:142907021..142910266-chr3:142911152..142913564,3	K562	blood:
6	chr3:142907861..142909717-chr3:142911559..142913814,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544567267	chr3:142912204-142912205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145220269	chr3:142912208-142912209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375275495	chr3:142912246-142912247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530790197	chr3:142912252-142912253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80183563	chr3:142912363-142912364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79901918	chr3:142912384-142912385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142448987	chr3:142912414-142912415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546419855	chr3:142912433-142912434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571316794	chr3:142912436-142912437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7648038	chr3:142912447-142912448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73866391	chr3:142912469-142912470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144637372	chr3:142912492-142912493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6806689	chr3:142912503-142912504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148221437	chr3:142912515-142912516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371280088	chr3:142912528-142912529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141243240	chr3:142912536-142912537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150775936	chr3:142912539-142912540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183710159	chr3:142912580-142912581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561926156	chr3:142912602-142912603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544632397	chr3:142912644-142912645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556567490	chr3:142912667-142912668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188185865	chr3:142912678-142912679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139191531	chr3:142912687-142912688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75227818	chr3:142912707-142912708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78517115	chr3:142912792-142912793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540377429	chr3:142912812-142912813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564839750	chr3:142912901-142912902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6440149	chr3:142912916-142912917	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373471628	chr3:142912959-142912960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193273706	chr3:142912960-142912961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183109500	chr3:142912981-142912982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368677663	chr3:142912982-142912983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186755763	chr3:142912993-142912994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143779154	chr3:142913011-142913012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578031884	chr3:142913016-142913017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191274680	chr3:142913123-142913124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147242822	chr3:142913128-142913129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559071729	chr3:142913178-142913179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71978733	chr3:142913193-142913194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140670705	chr3:142913232-142913233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371487000	chr3:142913255-142913256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184133769	chr3:142913270-142913271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556679205	chr3:142913289-142913290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576670456	chr3:142913290-142913291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149915222	chr3:142913374-142913375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574926530	chr3:142913402-142913403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542241898	chr3:142913427-142913428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543745414	chr3:142913446-142913447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530982486	chr3:142913447-142913448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115697121	chr3:142913463-142913464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142911400-142915800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:142911600-142914600	Weak transcription	Aorta	Aorta

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