Variant report

Variant	nsv869599
Chromosome Location	chr2:78700002-78724238
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
2	chr2:78696080..78698215-chr2:78700355..78703022,2	K562	blood:
3	chr2:78687302..78689394-chr2:78702872..78704887,2	K562	blood:
4	chr2:78716026..78716644-chr5:124520515..124521066,2	MCF-7	breast:
5	chr2:78695424..78698348-chr2:78698438..78701119,2	K562	blood:
6	chr2:78709311..78711382-chr2:78715661..78717389,2	K562	blood:
7	chr2:78715619..78718403-chr2:78734378..78736993,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071835
2	lnc-LRRTM4-3	chr2:78712920-78712978	NONHSAT071846
3	lnc-LRRTM4-3	chr2:78714968-78715058	NONHSAT071835

No data

Extended variants
information (count: 1042 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1042 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192939005	chr2:78700013-78700014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574399638	chr2:78700036-78700037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536904067	chr2:78700048-78700049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556717520	chr2:78700058-78700059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183811805	chr2:78700061-78700062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568047905	chr2:78700131-78700132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139828382	chr2:78700136-78700137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527987534	chr2:78700148-78700149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564060650	chr2:78700149-78700150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549543825	chr2:78700151-78700152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577295721	chr2:78700168-78700169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72808888	chr2:78700194-78700195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369112249	chr2:78700202-78700203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559686879	chr2:78700296-78700297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187446992	chr2:78700308-78700309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542511223	chr2:78700322-78700323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149800089	chr2:78700356-78700357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548038747	chr2:78700447-78700448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111523745	chr2:78700452-78700453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114174067	chr2:78700463-78700464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571800117	chr2:78700502-78700503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10496206	chr2:78700506-78700507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547820078	chr2:78700507-78700508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17581373	chr2:78700510-78700511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79773670	chr2:78700515-78700516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556624559	chr2:78700556-78700557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192689056	chr2:78700621-78700622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535489349	chr2:78700624-78700625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10209806	chr2:78700639-78700640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570478995	chr2:78700652-78700653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72808889	chr2:78700666-78700667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577334552	chr2:78700704-78700705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539902428	chr2:78700723-78700724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184881995	chr2:78700729-78700730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573348300	chr2:78700760-78700761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35271132	chr2:78700787-78700788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542601130	chr2:78700821-78700822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562677019	chr2:78700822-78700823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188327109	chr2:78700833-78700834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544899175	chr2:78700870-78700871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565030809	chr2:78700875-78700876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192610050	chr2:78700929-78700930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10186398	chr2:78700957-78700958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs184834341	chr2:78700972-78700973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567750612	chr2:78700989-78700990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530073507	chr2:78700991-78700992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141624023	chr2:78701029-78701030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568307639	chr2:78701062-78701063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570273443	chr2:78701081-78701082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62166143	chr2:78701086-78701087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78683400-78742200	Weak transcription	HepG2	liver
2	chr2:78713400-78713800	Active TSS	Brain Angular Gyrus	brain
3	chr2:78713400-78713800	Active TSS	Brain Cingulate Gyrus	brain
4	chr2:78713400-78713800	Active TSS	Brain Substantia Nigra	brain
5	chr2:78713400-78714000	Active TSS	Brain Anterior Caudate	brain
6	chr2:78713600-78713800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr2:78713600-78714000	Active TSS	Hela-S3	cervix
8	chr2:78713800-78714000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:78716600-78717400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:78716600-78718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:78721600-78722800	Enhancers	K562	blood

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