Variant report

Variant	nsv829739
Chromosome Location	chr3:139797496-140002685
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:93)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:93 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:139878941..139879664-chr3:140217683..140218605,2	MCF-7	breast:
2	chr3:139969847..139972662-chr3:139985088..139987480,2	K562	blood:
3	chr3:139991297..139993647-chr3:139995026..139996887,3	K562	blood:
4	chr3:139833459..139836549-chr3:139838969..139841751,3	K562	blood:
5	chr3:139812354..139813315-chr3:139925264..139926151,2	MCF-7	breast:
6	chr3:139864319..139866124-chr3:139869946..139872757,2	K562	blood:
7	chr3:139874975..139876916-chr3:139878971..139881623,2	K562	blood:
8	chr3:139864319..139866124-chr3:139869946..139872757,2	K562	blood:
9	chr3:139811764..139812310-chr3:139934838..139935561,2	MCF-7	breast:
10	chr3:139980980..139982947-chr3:139988620..139990291,2	K562	blood:
11	chr3:139833859..139835746-chr3:139846494..139848830,2	MCF-7	breast:
12	chr3:139847498..139848064-chr3:140582279..140583196,3	MCF-7	breast:
13	chr3:139847304..139848053-chr3:139938391..139939118,2	MCF-7	breast:
14	chr3:139913497..139916210-chr3:139916643..139919277,2	K562	blood:
15	chr3:139901794..139903880-chr3:139906327..139907878,2	K562	blood:
16	chr3:139963954..139966066-chr3:139966638..139968351,2	MCF-7	breast:
17	chr3:139847138..139847725-chr3:140217975..140218617,3	MCF-7	breast:
18	chr3:139965201..139967010-chr3:139990337..139992942,2	MCF-7	breast:
19	chr3:139922220..139924561-chr3:139926417..139928588,2	MCF-7	breast:
20	chr3:63805150..63806057-chr3:139856095..139856729,2	MCF-7	breast:
21	chr21:45665131..45666965-chr3:139933068..139935333,2	MCF-7	breast:
22	chr3:139813704..139816567-chr3:139818666..139821218,2	K562	blood:
23	chr3:139847158..139849236-chr3:139850404..139852713,2	MCF-7	breast:
24	chr3:139847350..139848064-chr3:140455872..140456504,2	MCF-7	breast:
25	chr3:139811749..139812473-chr3:139934801..139935433,2	MCF-7	breast:
26	chr3:139856881..139858741-chr3:139866185..139867749,2	MCF-7	breast:
27	chr3:139980980..139982947-chr3:139988620..139990291,2	K562	blood:
28	chr3:139970372..139972823-chr3:139975471..139977910,2	MCF-7	breast:
29	chr3:139915235..139917863-chr3:139919507..139921140,2	K562	blood:
30	chr3:139936684..139939530-chr3:139941057..139942593,2	MCF-7	breast:
31	chr3:139975949..139977666-chr3:139982168..139985039,2	MCF-7	breast:
32	chr3:139873836..139876088-chr3:139924820..139926780,2	MCF-7	breast:
33	chr3:139813704..139816567-chr3:139818666..139821218,2	K562	blood:
34	chr3:139966856..139969522-chr3:139972247..139974202,2	K562	blood:
35	chr3:139973735..139976098-chr3:139987936..139989908,2	K562	blood:
36	chr3:139905931..139907924-chr3:139914336..139916960,2	K562	blood:
37	chr3:139847064..139848119-chr3:139934734..139936056,6	MCF-7	breast:
38	chr3:139905931..139907924-chr3:139914336..139916960,2	K562	blood:
39	chr3:139963954..139966066-chr3:139966638..139968351,2	MCF-7	breast:
40	chr3:139907221..139909210-chr3:139909774..139912036,2	MCF-7	breast:
41	chr3:139965201..139967010-chr3:139990337..139992942,2	MCF-7	breast:
42	chr3:139913497..139916210-chr3:139916643..139919277,2	K562	blood:
43	chr3:139973735..139976098-chr3:139987936..139989908,2	K562	blood:
44	chr3:139882476..139885044-chr3:139887819..139889827,2	MCF-7	breast:
45	chr3:139965802..139967783-chr3:139969852..139972671,2	MCF-7	breast:
46	chr3:139985294..139989044-chr3:139992240..139995969,3	K562	blood:
47	chr3:139818128..139821067-chr3:139825810..139829205,3	K562	blood:
48	chr3:139915235..139917863-chr3:139919507..139921140,2	K562	blood:
49	chr3:139878853..139881131-chr3:139881618..139884130,2	MCF-7	breast:
50	chr3:139965802..139967783-chr3:139969852..139972671,2	MCF-7	breast:

No data

Extended variants
information (count: 8054 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:8054 , 50 per page) page: 1 2 3 4 5 6 7 ... 162

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545574883	chr3:139797533-139797534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374384136	chr3:139797545-139797546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543246428	chr3:139797596-139797597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367563717	chr3:139797597-139797598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561611542	chr3:139797667-139797668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34456374	chr3:139797763-139797764	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs191916906	chr3:139797795-139797796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559496713	chr3:139797811-139797812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16849828	chr3:139797844-139797845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs16849830	chr3:139797874-139797875	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563801701	chr3:139797964-139797965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184525762	chr3:139798004-139798005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549615128	chr3:139798029-139798030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549171671	chr3:139798049-139798050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541193808	chr3:139798119-139798120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143000512	chr3:139798125-139798126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535013405	chr3:139798159-139798160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547331053	chr3:139798177-139798178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75031285	chr3:139798178-139798179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12486848	chr3:139798222-139798223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561320905	chr3:139798223-139798224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372594125	chr3:139798273-139798274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575745183	chr3:139798321-139798322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530004274	chr3:139798329-139798330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536819739	chr3:139798332-139798333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189187512	chr3:139798359-139798360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116346748	chr3:139798360-139798361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549788275	chr3:139798375-139798376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575812695	chr3:139798387-139798388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192213225	chr3:139798397-139798398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150401323	chr3:139798431-139798432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578055874	chr3:139798434-139798435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545454297	chr3:139798436-139798437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563737880	chr3:139798466-139798467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531050323	chr3:139798490-139798491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185569449	chr3:139798494-139798495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561335986	chr3:139798507-139798508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528726112	chr3:139798542-139798543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201286432	chr3:139798591-139798592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548470137	chr3:139798592-139798593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375682915	chr3:139798593-139798594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552886470	chr3:139798596-139798597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143411115	chr3:139798608-139798609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532284094	chr3:139798657-139798658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138110284	chr3:139798659-139798660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571939938	chr3:139798804-139798805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149532907	chr3:139798837-139798838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550981915	chr3:139798885-139798886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569361937	chr3:139798910-139798911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144070917	chr3:139798916-139798917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Dyslexia	22102821	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	19246517	CNVD

Chromatin state (count:881 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139772200-139807400	Weak transcription	Ovary	ovary
2	chr3:139791000-139801000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:139795800-139797600	Weak transcription	HSMMtube	muscle
4	chr3:139797000-139806600	Weak transcription	Pancreas	Pancrea
5	chr3:139797600-139797800	Enhancers	HSMMtube	muscle
6	chr3:139797800-139809200	Weak transcription	HSMMtube	muscle
7	chr3:139800800-139801200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:139801000-139801200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:139803800-139804400	Enhancers	Brain Germinal Matrix	brain
10	chr3:139805200-139806000	Enhancers	Liver	Liver
11	chr3:139806600-139807000	Enhancers	Pancreas	Pancrea
12	chr3:139807400-139807600	ZNF genes & repeats	Ovary	ovary
13	chr3:139808400-139808800	Weak transcription	Ovary	ovary
14	chr3:139809200-139811600	Enhancers	HSMMtube	muscle
15	chr3:139809400-139810400	Enhancers	Ovary	ovary
16	chr3:139809400-139813400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:139809600-139810200	Enhancers	Right Atrium	heart
18	chr3:139809600-139810400	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:139809600-139810400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:139809600-139810600	Enhancers	HSMM	muscle
21	chr3:139809800-139810000	Enhancers	Brain Cingulate Gyrus	brain
22	chr3:139810000-139810200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:139810000-139810200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:139810000-139810200	Enhancers	Left Ventricle	heart
25	chr3:139810000-139810200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:139810000-139810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:139810000-139810600	Enhancers	HMEC	breast
28	chr3:139810000-139811000	Enhancers	Adipose Nuclei	Adipose
29	chr3:139810000-139813800	Enhancers	Fetal Muscle Leg	muscle
30	chr3:139810000-139814600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:139810200-139810400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:139810200-139810400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:139810200-139810400	Enhancers	Fetal Muscle Trunk	muscle
34	chr3:139810200-139810400	Enhancers	Stomach Smooth Muscle	stomach
35	chr3:139810200-139811600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:139810200-139811800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:139810200-139812200	Weak transcription	Left Ventricle	heart
38	chr3:139810200-139812200	Weak transcription	Right Atrium	heart
39	chr3:139810200-139812400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:139810400-139812000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:139810400-139812200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr3:139810400-139812400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:139810400-139813000	Weak transcription	Ovary	ovary
44	chr3:139810600-139811400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr3:139810600-139812000	Weak transcription	HSMM	muscle
46	chr3:139810600-139812200	Weak transcription	HMEC	breast
47	chr3:139811000-139812800	Weak transcription	Adipose Nuclei	Adipose
48	chr3:139811200-139812000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:139811400-139812200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:139811400-139812200	Enhancers	Fetal Muscle Trunk	muscle

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