Variant report

Variant	nsv877033
Chromosome Location	chr3:80385552-80450254
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:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:80398298..80401039-chr3:80402529..80404343,2	K562	blood:
2	chr3:80445432..80447769-chr3:80448722..80451256,2	MCF-7	breast:
3	chr3:80445432..80447769-chr3:80448722..80451256,2	MCF-7	breast:
4	chr3:80398298..80401039-chr3:80402529..80404343,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROBO2-12	chr3:80436771-80436888	NONHSAT090589
2	lnc-ROBO2-12	chr3:80436771-80436888	FPKM1_group_21490_transcript_2
3	lnc-ROBO1-4	chr3:80439923-80440091	NONHSAT090590
4	lnc-ROBO2-12	chr3:80437161-80437281	NONHSAT090589
5	lnc-ROBO2-12	chr3:80436810-80436930	FPKM1_group_21490_transcript_2

No data

Extended variants
information (count: 619 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554890961	chr3:80399809-80399810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574832370	chr3:80399817-80399818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374403175	chr3:80399857-80399858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554507003	chr3:80399881-80399882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142813185	chr3:80399882-80399883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs66621912	chr3:80399952-80399953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557421684	chr3:80399957-80399958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187900300	chr3:80399970-80399971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577306861	chr3:80399974-80399975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546361378	chr3:80399981-80399982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553644510	chr3:80400005-80400006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146534655	chr3:80400089-80400090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576981465	chr3:80400113-80400114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35071765	chr3:80400154-80400155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141299070	chr3:80400155-80400156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145080029	chr3:80400156-80400157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192414025	chr3:80400175-80400176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185380048	chr3:80400208-80400209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146812197	chr3:80400210-80400211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140567263	chr3:80400213-80400214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188498014	chr3:80400253-80400254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577303041	chr3:80400265-80400266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543821777	chr3:80400317-80400318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557402428	chr3:80400339-80400340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566347304	chr3:80400411-80400412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376770217	chr3:80400418-80400419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150450843	chr3:80400429-80400430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555243322	chr3:80400444-80400445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565073501	chr3:80400455-80400456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138341121	chr3:80400487-80400488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575225103	chr3:80400526-80400527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557110567	chr3:80400534-80400535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544245826	chr3:80400549-80400550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577246263	chr3:80400553-80400554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71633603	chr3:80400619-80400620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560953647	chr3:80400629-80400630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73117704	chr3:80400639-80400640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553492693	chr3:80400665-80400666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573479047	chr3:80400680-80400681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542489293	chr3:80400688-80400689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75853867	chr3:80400785-80400786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531268465	chr3:80400803-80400804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113386210	chr3:80400809-80400810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62254979	chr3:80400835-80400836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149632030	chr3:80400856-80400857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143033358	chr3:80400886-80400887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546385156	chr3:80400896-80400897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559866017	chr3:80400925-80400926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193083706	chr3:80400949-80400950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138602822	chr3:80400957-80400958	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:80399800-80401000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:80400000-80400200	Enhancers	Fetal Intestine Small	intestine
3	chr3:80400800-80401000	Enhancers	Fetal Intestine Small	intestine
4	chr3:80404200-80404400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:80404200-80405200	Enhancers	NHEK	skin
6	chr3:80404400-80404800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:80404800-80405800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:80405200-80406600	Weak transcription	NHEK	skin
9	chr3:80405800-80406000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:80406000-80406800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:80406600-80407400	Enhancers	NHEK	skin
12	chr3:80406800-80407400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:80416000-80416400	Enhancers	Fetal Brain Male	brain
14	chr3:80416200-80416800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:80416400-80418600	Weak transcription	Fetal Brain Male	brain
16	chr3:80418600-80419000	Enhancers	Fetal Brain Male	brain
17	chr3:80427000-80427400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:80438400-80440000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:80440000-80440600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:80440600-80440800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:80440800-80442800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:80442800-80443200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:80443200-80443400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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