Variant report

Variant	nsv979156
Chromosome Location	chr2:187125257-187126379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187126284-187126336	NONHSAT075981

Extended variants
information (count: 38 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570968421	chr2:187125291-187125292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535319133	chr2:187125293-187125294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575098266	chr2:187125307-187125308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10931232	chr2:187125310-187125311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs78225577	chr2:187125323-187125324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376362992	chr2:187125324-187125325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184151826	chr2:187125328-187125329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188239811	chr2:187125357-187125358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573755000	chr2:187125374-187125375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575667011	chr2:187125386-187125387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151120193	chr2:187125413-187125414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565080522	chr2:187125443-187125444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541381470	chr2:187125455-187125456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193164107	chr2:187125463-187125464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541311739	chr2:187125469-187125470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559717370	chr2:187125513-187125514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72907522	chr2:187125521-187125522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72907524	chr2:187125552-187125553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376425917	chr2:187125565-187125566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182380101	chr2:187125586-187125587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552028365	chr2:187125588-187125589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532506261	chr2:187125675-187125676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571023973	chr2:187125733-187125734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79838727	chr2:187125745-187125746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546876301	chr2:187125760-187125761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568381138	chr2:187125761-187125762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569329430	chr2:187125805-187125806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535768466	chr2:187125845-187125846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530206111	chr2:187125888-187125889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35672924	chr2:187125915-187125916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113951229	chr2:187125945-187125946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79135777	chr2:187126070-187126071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569169001	chr2:187126075-187126076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116585435	chr2:187126163-187126164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557998560	chr2:187126178-187126179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547480063	chr2:187126193-187126194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534256122	chr2:187126249-187126250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541190342	chr2:187126370-187126371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187112800-187126400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:187120200-187139000	Weak transcription	Gastric	stomach
3	chr2:187121200-187126400	Weak transcription	Spleen	Spleen
4	chr2:187122200-187128000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:187122800-187128200	Weak transcription	Ovary	ovary

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