Variant report

Variant	esv3447123
Chromosome Location	chr2:78186346-78239095
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:111007522..111008367-chr2:78191655..78192229,2	MCF-7	breast:
2	chr2:78215424..78217099-chr2:78219299..78221415,2	K562	blood:
3	chr2:78215424..78217099-chr2:78219299..78221415,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78214578-78215904	NONHSAT071835
2	lnc-REG3G-8	chr2:78192534-78192764	NONHSAT071839
3	lnc-LRRTM4-3	chr2:78225204-78225307	NONHSAT071835
4	lnc-REG3G-8	chr2:78208133-78208440	NONHSAT071839
5	lnc-LRRTM4-3	chr2:78229100-78229271	NONHSAT071835
6	lnc-REG3G-8	chr2:78187674-78187885	NONHSAT071839

No data

Extended variants
information (count: 990 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570536359	chr2:78187745-78187746	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs191524859	chr2:78187757-78187758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs544993689	chr2:78187817-78187818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs74806014	chr2:78187818-78187819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs143966707	chr2:78187824-78187825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs541114677	chr2:78187840-78187841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs561096973	chr2:78187853-78187854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs529914386	chr2:78187881-78187882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs530117864	chr2:78192543-78192544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549862447	chr2:78192590-78192591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs377333430	chr2:78192595-78192596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs570156336	chr2:78192604-78192605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs184971678	chr2:78192608-78192609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs545693114	chr2:78192617-78192618	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs558762830	chr2:78192621-78192622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs533546796	chr2:78192635-78192636	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs112323339	chr2:78192692-78192693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs565909678	chr2:78192693-78192694	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs566589725	chr2:78192739-78192740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs574990536	chr2:78192826-78192827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs542609509	chr2:78192846-78192847	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs71383175	chr2:78192859-78192860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528924583	chr2:78192863-78192864	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs36061204	chr2:78192865-78192866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111282412	chr2:78192872-78192873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139966576	chr2:78192881-78192882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs531114027	chr2:78192889-78192890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545108428	chr2:78192895-78192896	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565124462	chr2:78192916-78192917	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs527474889	chr2:78192936-78192937	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184357845	chr2:78192940-78192941	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs11083859	chr2:78192958-78192959	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561241349	chr2:78192967-78192968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529921038	chr2:78192987-78192988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs28720770	chr2:78192996-78192997	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11881256	chr2:78193018-78193019	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532501576	chr2:78193019-78193020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552247338	chr2:78193036-78193037	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565971289	chr2:78193042-78193043	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74618408	chr2:78193066-78193067	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78368050	chr2:78193070-78193071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs534896239	chr2:78193072-78193073	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113699700	chr2:78193113-78193114	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372087633	chr2:78193121-78193122	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189065630	chr2:78193132-78193133	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79765730	chr2:78193138-78193139	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs34656055	chr2:78193143-78193144	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537310569	chr2:78193147-78193148	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556158840	chr2:78193148-78193149	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78032418	chr2:78193168-78193169	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78192800-78193200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:78193200-78195000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:78194800-78195200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:78194800-78195200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr2:78195000-78195200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:78195200-78195600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:78195200-78200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:78195600-78195800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:78195800-78199600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:78199200-78201800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:78199600-78200200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:78199800-78200000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:78200000-78200400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:78200000-78200800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:78200200-78200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:78200200-78201200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:78200400-78200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:78200400-78201400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:78200600-78201000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:78200600-78201800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:78200800-78201200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:78200800-78201600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:78201200-78201400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:78201200-78201400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:78201400-78201800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:78201400-78202000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:78201400-78204200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:78204600-78205000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:78220200-78220800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:78226200-78226800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:78226200-78227000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:78226600-78227400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:78226800-78227200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:78227200-78227400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:78227400-78229200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:78229200-78229400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:78229400-78229800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:78229800-78230200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:78237000-78237200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:78237200-78238200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:78238000-78238400	Active TSS	Brain Substantia Nigra	brain
42	chr2:78238200-78238400	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:78238200-78238600	Active TSS	Brain Angular Gyrus	brain
44	chr2:78238200-78240800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:78238400-78238800	Active TSS	Brain Cingulate Gyrus	brain

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