Variant report

Variant	esv3463781
Chromosome Location	chr3:112118262-112124060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTLA-1	chr3:112123200-112123225	NONHSAT091170

Extended variants
information (count: 204 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191335585	chr3:112118319-112118320	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528645474	chr3:112118321-112118322	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559922317	chr3:112118348-112118349	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183958525	chr3:112118352-112118353	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368532344	chr3:112118429-112118430	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189421437	chr3:112118462-112118463	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530923096	chr3:112118486-112118487	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114776722	chr3:112118510-112118511	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542317713	chr3:112118521-112118522	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9878780	chr3:112118529-112118530	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546612031	chr3:112118547-112118548	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566774011	chr3:112118555-112118556	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139447143	chr3:112118622-112118623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142327547	chr3:112118629-112118630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7610866	chr3:112118632-112118633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7644713	chr3:112118639-112118640	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570701635	chr3:112118712-112118713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370558966	chr3:112118716-112118717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192374293	chr3:112118842-112118843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538582442	chr3:112118850-112118851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185688030	chr3:112118854-112118855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528108061	chr3:112118858-112118859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553365298	chr3:112118860-112118861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573486885	chr3:112118874-112118875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541979954	chr3:112118928-112118929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546203202	chr3:112118932-112118933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149831852	chr3:112118966-112118967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189865477	chr3:112118977-112118978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368866836	chr3:112119022-112119023	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567468491	chr3:112119034-112119035	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115975935	chr3:112119037-112119038	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544327949	chr3:112119039-112119040	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374336946	chr3:112119080-112119081	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374905855	chr3:112119102-112119103	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564123194	chr3:112119103-112119104	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558597475	chr3:112119172-112119173	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546993130	chr3:112119205-112119206	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs74973966	chr3:112119270-112119271	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529196015	chr3:112119281-112119282	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549187145	chr3:112119287-112119288	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569117111	chr3:112119299-112119300	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs537914976	chr3:112119351-112119352	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4682104	chr3:112119435-112119436	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551469359	chr3:112119470-112119471	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34257022	chr3:112119551-112119552	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs2633605	chr3:112119565-112119566	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536970756	chr3:112119593-112119594	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs56687420	chr3:112119597-112119598	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375964997	chr3:112119598-112119599	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35124378	chr3:112119599-112119600	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112110800-112118400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:112111400-112120400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:112111800-112125400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:112113400-112124600	Weak transcription	HMEC	breast
5	chr3:112113600-112120600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:112115000-112121200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:112115200-112127600	Weak transcription	Fetal Kidney	kidney
8	chr3:112116400-112118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:112116400-112126800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:112116600-112119800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:112116600-112121200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:112117000-112119200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:112117000-112124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:112117000-112125600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:112117600-112118400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:112117800-112120800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:112118000-112118600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:112118000-112118600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:112118000-112118600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:112118000-112118600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr3:112118000-112118600	Enhancers	Placenta	Placenta
22	chr3:112118000-112119200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:112118200-112118600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:112118200-112118600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:112118200-112118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:112118400-112118600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr3:112118400-112118600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr3:112118400-112123200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr3:112118600-112119000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:112118600-112119000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:112118600-112119000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:112118600-112119800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:112118600-112119800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:112118600-112119800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:112118600-112124000	Weak transcription	Placenta	Placenta
36	chr3:112118600-112130400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:112119000-112119200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:112119000-112119400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:112119000-112119400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr3:112119200-112119600	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:112119200-112124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:112119400-112119600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:112119400-112119800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:112119600-112120000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr3:112119600-112120200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:112119800-112120000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:112119800-112120000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr3:112119800-112120200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr3:112119800-112120200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr3:112119800-112120200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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