Variant report

Variant	nsv999904
Chromosome Location	chr3:112098217-112114816
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:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111832694..111835578-chr3:112096846..112099201,2	MCF-7	breast:
2	chr3:112090607..112092226-chr3:112097134..112099677,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTLA-1	chr3:112100753-112100776	NONHSAT091168
2	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091172
3	lnc-BTLA-1	chr3:112099250-112099670	NONHSAT091173
4	lnc-BTLA-1	chr3:112100753-112100780	NONHSAT091174
5	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091174
6	lnc-BTLA-1	chr3:112099217-112099448	NONHSAT091176
7	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091168
8	lnc-BTLA-1	chr3:112100753-112100776	NONHSAT091176

No data

Extended variants
information (count: 591 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182318212	chr3:112098303-112098304	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562475536	chr3:112098308-112098309	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs59514600	chr3:112098341-112098342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146391359	chr3:112098348-112098349	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75046662	chr3:112098380-112098381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546759184	chr3:112098387-112098388	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs566560631	chr3:112098435-112098436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75431421	chr3:112098472-112098473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372561627	chr3:112098502-112098503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535569434	chr3:112098579-112098580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187686444	chr3:112098581-112098582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114641164	chr3:112098646-112098647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72952469	chr3:112098650-112098651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558065585	chr3:112098651-112098652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541785808	chr3:112098670-112098671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201019451	chr3:112098671-112098672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78209899	chr3:112098685-112098686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577740655	chr3:112098690-112098691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7641033	chr3:112098723-112098724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191084381	chr3:112098729-112098730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376262122	chr3:112098767-112098768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6772556	chr3:112098809-112098810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542745327	chr3:112098810-112098811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562461988	chr3:112098822-112098823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183407983	chr3:112098855-112098856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62265777	chr3:112098879-112098880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369035911	chr3:112098900-112098901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2633598	chr3:112098907-112098908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533481327	chr3:112098910-112098911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547137841	chr3:112098968-112098969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56980412	chr3:112098994-112098995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs529303277	chr3:112099010-112099011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149788091	chr3:112099124-112099125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147904494	chr3:112099125-112099126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142165988	chr3:112099141-112099142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6799765	chr3:112099148-112099149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551505126	chr3:112099156-112099157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143824349	chr3:112099165-112099166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144453730	chr3:112099176-112099177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147846194	chr3:112099206-112099207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77980883	chr3:112099222-112099223	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs188487320	chr3:112099249-112099250	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs78655813	chr3:112099261-112099262	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs141468280	chr3:112099271-112099272	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs556330608	chr3:112099307-112099308	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs575929469	chr3:112099308-112099309	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs192904297	chr3:112099328-112099329	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs111654218	chr3:112099344-112099345	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs578166182	chr3:112099388-112099389	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs540529917	chr3:112099405-112099406	Enhancers Weak transcription	lncRNA	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:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
3	chr3:112091400-112098400	Enhancers	Adipose Nuclei	Adipose
4	chr3:112094000-112098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:112094200-112098400	Enhancers	Fetal Lung	lung
7	chr3:112094400-112100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:112094800-112098600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:112095200-112098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:112095200-112098800	Enhancers	Osteobl	bone
13	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
14	chr3:112095600-112098400	Enhancers	NH-A	brain
15	chr3:112095600-112098600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:112095800-112098800	Enhancers	HMEC	breast
17	chr3:112096000-112098400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:112096000-112098400	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:112096000-112098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:112096000-112098800	Enhancers	Primary B cells from cord blood	blood
21	chr3:112096400-112098600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:112096600-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:112096600-112099400	Enhancers	Placenta	Placenta
24	chr3:112096800-112098600	Enhancers	HSMM	muscle
25	chr3:112097000-112098600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:112097000-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:112097000-112103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:112097200-112098400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr3:112097200-112099400	Enhancers	Hela-S3	cervix
31	chr3:112097200-112101400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:112097200-112101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:112097600-112098400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr3:112097600-112098400	Flanking Active TSS	NHEK	skin
35	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:112098000-112098400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:112098000-112098400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:112098000-112098400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:112098000-112103800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:112098000-112108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:112098200-112098400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr3:112098200-112098400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr3:112098200-112098400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:112098200-112098400	Enhancers	Fetal Muscle Leg	muscle
45	chr3:112098200-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:112098400-112098600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:112098400-112098600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:112098400-112099200	Enhancers	NHEK	skin
49	chr3:112098400-112099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:112098400-112099400	Enhancers	Primary neutrophils fromperipheralblood	blood

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