Variant report

Variant	nsv829733
Chromosome Location	chr3:136820486-136946215
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:136835941..136838031-chr3:136839839..136841340,2	MCF-7	breast:
2	chr3:136864991..136866784-chr3:136867480..136870154,2	MCF-7	breast:
3	chr3:136823826..136824386-chr3:137411463..137412338,3	MCF-7	breast:
4	chr3:136875302..136878128-chr3:136881598..136883539,2	K562	blood:
5	chr3:136878787..136880397-chr3:136883234..136884838,2	K562	blood:
6	chr3:136825750..136828613-chr3:136831655..136834388,2	K562	blood:
7	chr3:136825750..136828613-chr3:136831655..136834388,2	K562	blood:
8	chr3:136936669..136937252-chr3:137411406..137412120,3	MCF-7	breast:
9	chr3:136828945..136829849-chr3:137411807..137412311,2	MCF-7	breast:
10	chr3:136835941..136838031-chr3:136839839..136841340,2	MCF-7	breast:
11	chr3:136823432..136824833-chr3:137411264..137412201,5	MCF-7	breast:
12	chr1:75002770..75004477-chr3:136927967..136930965,2	K562	blood:
13	chr3:136923897..136926027-chr3:136927092..136929038,2	MCF-7	breast:
14	chr3:136823808..136824361-chr3:137689777..137690278,2	K562	blood:
15	chr3:136844705..136847206-chr3:136864731..136867089,2	K562	blood:
16	chr3:136829130..136829970-chr3:137411381..137412061,2	MCF-7	breast:
17	chr3:136823896..136824786-chr3:137511206..137512291,4	MCF-7	breast:
18	chr3:135790761..135791452-chr3:136823712..136824361,2	K562	blood:
19	chr3:136875302..136878128-chr3:136881598..136883539,2	K562	blood:
20	chr3:136751186..136751967-chr3:136828909..136829867,2	MCF-7	breast:
21	chr3:136844705..136847206-chr3:136864731..136867089,2	K562	blood:
22	chr3:136878787..136880397-chr3:136883234..136884838,2	K562	blood:
23	chr3:136751027..136751908-chr3:136823889..136824681,2	MCF-7	breast:
24	chr3:136824217..136824776-chr3:137665005..137665856,3	K562	blood:
25	chr3:136864991..136866784-chr3:136867480..136870154,2	MCF-7	breast:
26	chr3:136923897..136926027-chr3:136927092..136929038,2	MCF-7	breast:
27	chr3:136840249..136841167-chr3:137411617..137412222,3	MCF-7	breast:
28	chr3:136936359..136937240-chr3:137664899..137665562,2	MCF-7	breast:
29	chr3:136829023..136829925-chr3:137665073..137665761,2	MCF-7	breast:
30	chr3:136824772..136825295-chr9:8731189..8731885,2	MCF-7	breast:

No data

Extended variants
information (count: 2546 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:2546 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543525160	chr3:136820525-136820526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72980777	chr3:136820536-136820537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532631114	chr3:136820562-136820563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552349456	chr3:136820567-136820568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559621756	chr3:136820570-136820571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528719146	chr3:136820652-136820653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547796790	chr3:136820659-136820660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372685252	chr3:136820674-136820675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80149706	chr3:136820675-136820676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550434896	chr3:136820713-136820714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144914494	chr3:136820763-136820764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539693343	chr3:136820782-136820783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553160803	chr3:136820799-136820800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145888167	chr3:136820852-136820853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535715961	chr3:136820895-136820896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148980740	chr3:136820904-136820905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557216231	chr3:136820917-136820918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185629721	chr3:136820989-136820990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552856792	chr3:136821001-136821002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543784699	chr3:136821018-136821019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116623454	chr3:136821179-136821180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576878319	chr3:136821186-136821187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577368011	chr3:136821207-136821208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545996395	chr3:136821243-136821244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114276920	chr3:136821263-136821264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559485952	chr3:136821264-136821265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77003076	chr3:136821327-136821328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548627096	chr3:136821331-136821332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562387279	chr3:136821340-136821341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143766018	chr3:136821383-136821384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188527142	chr3:136821386-136821387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570459511	chr3:136821387-136821388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539502587	chr3:136821394-136821395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180939508	chr3:136821409-136821410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148103070	chr3:136821433-136821434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375604047	chr3:136821476-136821477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566644700	chr3:136821511-136821512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535623559	chr3:136821530-136821531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185010269	chr3:136821537-136821538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190635553	chr3:136821561-136821562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184121401	chr3:136821699-136821700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141306656	chr3:136821808-136821809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576940006	chr3:136821859-136821860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371595433	chr3:136821883-136821884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553025190	chr3:136821884-136821885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573132722	chr3:136821902-136821903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542398298	chr3:136821910-136821911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562290427	chr3:136821916-136821917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531189782	chr3:136821917-136821918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144958324	chr3:136821934-136821935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136798400-136821200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:136806000-136827800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:136815200-136821200	Weak transcription	Psoas Muscle	Psoas
4	chr3:136816800-136823600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:136817000-136822600	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:136817000-136827800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:136820200-136820600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:136821200-136821400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr3:136821200-136821400	Enhancers	Psoas Muscle	Psoas
10	chr3:136822200-136822600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:136822200-136823600	Enhancers	Fetal Brain Male	brain
12	chr3:136822200-136824400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:136822200-136824600	Enhancers	Fetal Brain Female	brain
14	chr3:136822600-136824400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:136822600-136825000	Enhancers	Fetal Muscle Leg	muscle
16	chr3:136822600-136825800	Enhancers	Brain Germinal Matrix	brain
17	chr3:136823600-136824000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:136823600-136824400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:136823600-136824400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:136823600-136824400	Weak transcription	Fetal Brain Male	brain
21	chr3:136823800-136824200	Enhancers	Fetal Heart	heart
22	chr3:136823800-136824400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:136823800-136824400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:136823800-136824600	Enhancers	Fetal Kidney	kidney
25	chr3:136824000-136824200	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:136824000-136824400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:136824000-136824400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr3:136824000-136824400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:136824000-136824400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:136824000-136824400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr3:136824000-136824400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:136824000-136824400	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:136824000-136824400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:136824000-136824800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:136824000-136824800	Enhancers	Ovary	ovary
36	chr3:136824000-136825000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr3:136824000-136825600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:136824200-136824400	Enhancers	Liver	Liver
39	chr3:136824200-136824600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
40	chr3:136824200-136825000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:136824400-136824600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:136824400-136824600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:136824400-136824600	Enhancers	Colon Smooth Muscle	Colon
44	chr3:136824400-136824600	Enhancers	Fetal Brain Male	brain
45	chr3:136824400-136824600	Flanking Active TSS	Fetal Lung	lung
46	chr3:136824400-136824600	Bivalent Enhancer	Fetal Thymus	thymus
47	chr3:136824400-136824600	Bivalent Enhancer	A549	lung
48	chr3:136824400-136824600	Bivalent Enhancer	NH-A	brain
49	chr3:136824400-136824800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr3:136824400-136824800	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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