Variant report

Variant	esv3331778
Chromosome Location	chr3:112134311-112164058
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:112045532..112046934-chr3:112156222..112157470,7	MCF-7	breast:
2	chr3:112012262..112013019-chr3:112156556..112157096,2	MCF-7	breast:
3	chr3:111830414..111830964-chr3:112156344..112156927,2	MCF-7	breast:
4	chr3:112052345..112054034-chr3:112155349..112157049,2	MCF-7	breast:
5	chr3:112046007..112046874-chr3:112156015..112156737,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTLA-4	chr3:112148802-112149477	NONHSAT091178

No data

Extended variants
information (count: 1199 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186368440	chr3:112134376-112134377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150870874	chr3:112134396-112134397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529043255	chr3:112134409-112134410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72954425	chr3:112134427-112134428	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568869053	chr3:112134509-112134510	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537458819	chr3:112134594-112134595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557603229	chr3:112134618-112134619	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570821508	chr3:112134624-112134625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539637455	chr3:112134703-112134704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553198723	chr3:112134715-112134716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572979313	chr3:112134729-112134730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117378662	chr3:112134780-112134781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139365912	chr3:112134781-112134782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575568908	chr3:112134789-112134790	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186969243	chr3:112134817-112134818	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144461070	chr3:112134888-112134889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111275616	chr3:112134894-112134895	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533467779	chr3:112134901-112134902	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35180407	chr3:112134904-112134905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551613240	chr3:112134908-112134909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553194220	chr3:112134991-112134992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368090297	chr3:112135017-112135018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572958452	chr3:112135030-112135031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542044220	chr3:112135090-112135091	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140022543	chr3:112135113-112135114	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555142506	chr3:112135143-112135144	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528981206	chr3:112135159-112135160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4473524	chr3:112135165-112135166	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114533216	chr3:112135190-112135191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531288734	chr3:112135195-112135196	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543906983	chr3:112135229-112135230	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551132643	chr3:112135261-112135262	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570807468	chr3:112135280-112135281	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539773233	chr3:112135287-112135288	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192831584	chr3:112135308-112135309	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184773897	chr3:112135312-112135313	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535694546	chr3:112135333-112135334	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2633550	chr3:112135343-112135344	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180904693	chr3:112135348-112135349	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563547635	chr3:112135350-112135351	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143631721	chr3:112135408-112135409	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533455142	chr3:112135410-112135411	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114568809	chr3:112135444-112135445	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371550176	chr3:112135467-112135468	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549505218	chr3:112135517-112135518	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372620009	chr3:112135591-112135592	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540564467	chr3:112135648-112135649	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114601620	chr3:112135698-112135699	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146811069	chr3:112135700-112135701	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542458391	chr3:112135701-112135702	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Chordoma	21215367	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112126200-112134400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:112126200-112135200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:112126600-112135200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:112126600-112135400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:112126800-112135200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:112126800-112136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:112130800-112136400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:112130800-112136400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:112130800-112137200	Weak transcription	Right Atrium	heart
10	chr3:112130800-112137600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:112132600-112135400	Weak transcription	Primary B cells from cord blood	blood
12	chr3:112132800-112135400	Weak transcription	Placenta	Placenta
13	chr3:112132800-112137600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:112132800-112144200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:112134000-112136400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:112134200-112136600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr3:112134400-112135800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:112135200-112136400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:112135200-112136400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:112135200-112136800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:112135400-112135600	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:112135400-112136200	Strong transcription	Primary B cells from cord blood	blood
23	chr3:112135400-112137200	Enhancers	Placenta	Placenta
24	chr3:112135600-112136200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:112135800-112136200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr3:112136000-112136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr3:112136200-112136400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
28	chr3:112136200-112137200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
29	chr3:112136200-112143000	Weak transcription	Primary B cells from cord blood	blood
30	chr3:112136400-112136600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:112136400-112136600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:112136400-112136600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:112136400-112137000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:112136400-112137000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr3:112136400-112137200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:112136400-112137200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
37	chr3:112136400-112137200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr3:112136400-112138400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
39	chr3:112136600-112137000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr3:112136600-112137000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
41	chr3:112136600-112137000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr3:112136600-112137200	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
43	chr3:112136600-112137200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
44	chr3:112136600-112137200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
45	chr3:112136800-112137000	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:112136800-112137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:112137000-112137200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr3:112137000-112137200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
49	chr3:112137000-112137200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:112137000-112137200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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