Variant report

Variant	nsv822162
Chromosome Location	chr3:82314455-82317691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-13	chr3:82317193-82317294	ucscGeneNc_uc003dqh_1

Extended variants
information (count: 97 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193096882	chr3:82314464-82314465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144972255	chr3:82314502-82314503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377143926	chr3:82314511-82314512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147953685	chr3:82314547-82314548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560859390	chr3:82314554-82314555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529584229	chr3:82314576-82314577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544036956	chr3:82314597-82314598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535760682	chr3:82314640-82314641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542995581	chr3:82314764-82314765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374032670	chr3:82314811-82314812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77937695	chr3:82314871-82314872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562914243	chr3:82314891-82314892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148995798	chr3:82314897-82314898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551909247	chr3:82314903-82314904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143446217	chr3:82314909-82314910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555302912	chr3:82314953-82314954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73142115	chr3:82314974-82314975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541067190	chr3:82314976-82314977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115877800	chr3:82314980-82314981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532934376	chr3:82315122-82315123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185809261	chr3:82315172-82315173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147973089	chr3:82315203-82315204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555736094	chr3:82315242-82315243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189119082	chr3:82315320-82315321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538304448	chr3:82315344-82315345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34612236	chr3:82315351-82315352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374825974	chr3:82315353-82315354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192750092	chr3:82315378-82315379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184057960	chr3:82315403-82315404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578088281	chr3:82315445-82315446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188693150	chr3:82315461-82315462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181470205	chr3:82315473-82315474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543222892	chr3:82315514-82315515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186059088	chr3:82315521-82315522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563512221	chr3:82315531-82315532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190421726	chr3:82315543-82315544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182004713	chr3:82315631-82315632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368252493	chr3:82315643-82315644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531748193	chr3:82315796-82315797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545484909	chr3:82315799-82315800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140796016	chr3:82315862-82315863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59786966	chr3:82315888-82315889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386662937	chr3:82315953-82315954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539137351	chr3:82315954-82315955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115145445	chr3:82315955-82315956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559734531	chr3:82316065-82316066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567394932	chr3:82316084-82316085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187610628	chr3:82316119-82316120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190641368	chr3:82316150-82316151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144653494	chr3:82316305-82316306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82312000-82318200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:82312200-82314600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:82312200-82315200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:82312200-82315400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:82314400-82316000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:82314600-82315200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:82315000-82315200	Enhancers	HepG2	liver
8	chr3:82315200-82315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:82315200-82316200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:82315400-82315800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:82315800-82316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:82315800-82316000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:82316200-82316800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:82316600-82316800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:82316800-82317000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links