Variant report

Variant	esv1004332
Chromosome Location	chr2:181762087-181767968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:181762102..181764574-chr2:181766840..181768523,2	MCF-7	breast:
2	chr2:181762102..181764574-chr2:181766840..181768523,2	MCF-7	breast:
3	chr2:181765622..181768152-chr2:181788241..181790151,2	K562	blood:
4	chr2:181761336..181764144-chr2:181844409..181846325,2	K562	blood:
5	chr2:181767652..181770556-chr2:181770717..181772218,2	MCF-7	breast:
6	chr2:181754821..181757202-chr2:181764527..181766367,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2E3-2	chr2:181762493-181765038	NONHSAT075852
2	lnc-UBE2E3-2	chr2:181764377-181764445	NR_104319
3	lnc-UBE2E3-2	chr2:181764377-181764445	NR_104322
4	lnc-UBE2E3-2	chr2:181764377-181764445	NR_104323
5	lnc-UBE2E3-2	chr2:181764377-181764445	NR_104325

No data

Variant related genes	Relation type
ENSG00000170035	chromatin interactions
ENSG00000236153	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116001674	chr2:181762131-181762132	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs10182248	chr2:181762143-181762144	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs184883031	chr2:181762152-181762153	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569579643	chr2:181762167-181762168	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531126773	chr2:181762172-181762173	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs188659497	chr2:181762183-181762184	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547898139	chr2:181762216-181762217	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114612669	chr2:181762293-181762294	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs78050324	chr2:181762363-181762364	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553880297	chr2:181762379-181762380	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576618562	chr2:181762408-181762409	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539261326	chr2:181762417-181762418	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555995598	chr2:181762444-181762445	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75216736	chr2:181762581-181762582	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs544562340	chr2:181762639-181762640	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs535493176	chr2:181762658-181762659	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs114584887	chr2:181762660-181762661	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs373060380	chr2:181762680-181762681	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs181013141	chr2:181762694-181762695	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs557112037	chr2:181762695-181762696	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs10208978	chr2:181762718-181762719	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs532712749	chr2:181762752-181762753	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs185342059	chr2:181762884-181762885	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs189651075	chr2:181762914-181762915	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs531926070	chr2:181762933-181762934	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs548893640	chr2:181762958-181762959	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs370643620	chr2:181762981-181762982	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs74957819	chr2:181763016-181763017	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs79959866	chr2:181763058-181763059	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs35868173	chr2:181763074-181763075	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs182198625	chr2:181763080-181763081	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs187250547	chr2:181763150-181763151	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs539221799	chr2:181763221-181763222	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs191734674	chr2:181763277-181763278	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs28513213	chr2:181763308-181763309	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs4267479	chr2:181763335-181763336	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535363383	chr2:181763356-181763357	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs555678996	chr2:181763404-181763405	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs372184802	chr2:181763410-181763411	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs574728515	chr2:181763413-181763414	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs377275220	chr2:181763447-181763448	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs183584438	chr2:181763492-181763493	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs554260690	chr2:181763515-181763516	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs577435299	chr2:181763547-181763548	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs546824842	chr2:181763591-181763592	Inactive region	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs187190146	chr2:181763604-181763605	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs370818724	chr2:181763617-181763618	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs563051640	chr2:181763649-181763650	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs149965505	chr2:181763692-181763693	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs566956887	chr2:181763706-181763707	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181763600-181769400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:181767600-181767800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:181767600-181771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:181767800-181768000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:181767800-181768000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:181767800-181768000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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