Variant report

Variant	nsv829738
Chromosome Location	chr3:139670836-139851945
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:73)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:139721983..139724964-chr3:139726808..139729400,2	K562	blood:
2	chr3:139693515..139695318-chr3:139696321..139698150,3	K562	blood:
3	chr3:139847504..139850290-chr3:139855996..139858958,2	MCF-7	breast:
4	chr3:139700959..139701745-chr3:139770128..139770877,2	MCF-7	breast:
5	chr3:139683774..139685457-chr3:139686813..139689553,2	K562	blood:
6	chr3:139748751..139750480-chr3:139751561..139754135,2	MCF-7	breast:
7	chr3:139775648..139778022-chr3:139784434..139786771,2	MCF-7	breast:
8	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
9	chr3:139833859..139835746-chr3:139846494..139848830,2	MCF-7	breast:
10	chr3:139693515..139695318-chr3:139696321..139698150,3	K562	blood:
11	chr3:139775503..139777768-chr3:139781143..139783400,2	K562	blood:
12	chr3:139785493..139788234-chr3:139790501..139793200,2	K562	blood:
13	chr3:139768738..139770992-chr3:139772368..139773876,2	MCF-7	breast:
14	chr3:139775648..139778022-chr3:139784434..139786771,2	MCF-7	breast:
15	chr3:139730932..139733044-chr3:139735682..139737411,2	MCF-7	breast:
16	chr3:139683774..139685457-chr3:139686813..139689553,2	K562	blood:
17	chr3:139701206..139701879-chr3:139769975..139770873,4	MCF-7	breast:
18	chr3:139847498..139848064-chr3:140582279..140583196,3	MCF-7	breast:
19	chr3:139656303..139657655-chr3:139769773..139770917,9	MCF-7	breast:
20	chr3:139751388..139753284-chr3:139756083..139758554,2	MCF-7	breast:
21	chr3:139833859..139835746-chr3:139846494..139848830,2	MCF-7	breast:
22	chr3:139811749..139812473-chr3:139934801..139935433,2	MCF-7	breast:
23	chr3:139847304..139848053-chr3:139938391..139939118,2	MCF-7	breast:
24	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
25	chr3:139700959..139701745-chr3:139770128..139770877,2	MCF-7	breast:
26	chr3:139738986..139741463-chr3:139766762..139768876,2	K562	blood:
27	chr3:139777968..139779896-chr3:139782789..139784632,2	MCF-7	breast:
28	chr3:139435753..139436447-chr3:139770298..139770858,2	MCF-7	breast:
29	chr3:139687470..139689558-chr3:139697247..139698836,2	MCF-7	breast:
30	chr3:139701206..139701879-chr3:139769975..139770873,4	MCF-7	breast:
31	chr3:139656013..139657182-chr3:139769630..139770896,8	MCF-7	breast:
32	chr3:139847064..139848119-chr3:139934734..139936056,6	MCF-7	breast:
33	chr3:139785493..139788234-chr3:139790501..139793200,2	K562	blood:
34	chr3:139719664..139721781-chr3:139724415..139725942,2	MCF-7	breast:
35	chr3:139847158..139849236-chr3:139850404..139852713,2	MCF-7	breast:
36	chr3:139687470..139689558-chr3:139697247..139698836,2	MCF-7	breast:
37	chr3:139751388..139753284-chr3:139756083..139758554,2	MCF-7	breast:
38	chr3:139818128..139821067-chr3:139825810..139829205,3	K562	blood:
39	chr3:139847138..139847725-chr3:140217975..140218617,3	MCF-7	breast:
40	chr3:139741182..139743256-chr3:139752088..139754164,2	K562	blood:
41	chr3:139833459..139836549-chr3:139838969..139841751,3	K562	blood:
42	chr3:139673841..139676667-chr3:139679363..139682238,2	K562	blood:
43	chr3:139704566..139706318-chr3:139708309..139710031,2	K562	blood:
44	chr3:139812354..139813315-chr3:139925264..139926151,2	MCF-7	breast:
45	chr3:139713121..139716043-chr3:139741929..139744858,2	K562	blood:
46	chr3:139704566..139706318-chr3:139708309..139710031,2	K562	blood:
47	chr3:139813704..139816567-chr3:139818666..139821218,2	K562	blood:
48	chr3:139768738..139770992-chr3:139772368..139773876,2	MCF-7	breast:
49	chr3:139741182..139743256-chr3:139752088..139754164,2	K562	blood:
50	chr3:139847158..139849236-chr3:139850404..139852713,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMNAT3-7	chr3:139736364-139736920	expReg_chr3_10173_-

No data

Extended variants
information (count: 7018 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:7018 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138732907	chr3:139670912-139670913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564656497	chr3:139670942-139670943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544106849	chr3:139670950-139670951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1426051	chr3:139670978-139670979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1426050	chr3:139670995-139670996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529299976	chr3:139671068-139671069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149258840	chr3:139671096-139671097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568835906	chr3:139671112-139671113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144467285	chr3:139671130-139671131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551194967	chr3:139671133-139671134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13088844	chr3:139671176-139671177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577632277	chr3:139671196-139671197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377532205	chr3:139671216-139671217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78437156	chr3:139671225-139671226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533694072	chr3:139671244-139671245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80254185	chr3:139671245-139671246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540353122	chr3:139671253-139671254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13068981	chr3:139671254-139671255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13089409	chr3:139671255-139671256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13068998	chr3:139671295-139671296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13069004	chr3:139671303-139671304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201406020	chr3:139671304-139671305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs397750140	chr3:139671308-139671309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386666369	chr3:139671309-139671310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55686634	chr3:139671310-139671311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536259181	chr3:139671312-139671313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555865783	chr3:139671327-139671328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141593164	chr3:139671364-139671365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558437084	chr3:139671368-139671369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146386593	chr3:139671389-139671390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139742799	chr3:139671390-139671391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114032714	chr3:139671475-139671476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80065688	chr3:139671483-139671484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188287810	chr3:139671501-139671502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376176130	chr3:139671521-139671522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543034508	chr3:139671566-139671567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73867240	chr3:139671571-139671572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144411517	chr3:139671588-139671589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551256531	chr3:139671589-139671590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564790539	chr3:139671694-139671695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527490786	chr3:139671724-139671725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193043092	chr3:139671737-139671738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146108551	chr3:139671797-139671798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368947451	chr3:139671803-139671804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185256502	chr3:139671833-139671834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569666348	chr3:139671850-139671851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372170844	chr3:139671851-139671852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73224951	chr3:139671859-139671860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550926433	chr3:139671862-139671863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558500342	chr3:139671886-139671887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Dyslexia	22102821	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139665600-139671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:139665800-139672200	Weak transcription	Ovary	ovary
3	chr3:139668000-139672200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:139668200-139698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:139669200-139682200	Weak transcription	HSMMtube	muscle
6	chr3:139671200-139673800	Enhancers	HMEC	breast
7	chr3:139671600-139673400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:139671600-139673600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:139671800-139673400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:139671800-139673600	Enhancers	NHEK	skin
11	chr3:139672200-139672800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:139672200-139673600	Enhancers	Ovary	ovary
13	chr3:139672400-139672800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr3:139672800-139673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:139673200-139673400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:139673400-139695400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:139673600-139674600	Weak transcription	Ovary	ovary
18	chr3:139673800-139675000	Weak transcription	HMEC	breast
19	chr3:139674600-139675000	Enhancers	Ovary	ovary
20	chr3:139675000-139696600	Weak transcription	Ovary	ovary
21	chr3:139675200-139675400	Enhancers	Aorta	Aorta
22	chr3:139675200-139675400	Enhancers	HMEC	breast
23	chr3:139675400-139676000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:139675400-139677400	Weak transcription	Aorta	Aorta
25	chr3:139676400-139677000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr3:139676600-139677600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:139676800-139677400	Enhancers	Brain Cingulate Gyrus	brain
28	chr3:139682000-139683400	Enhancers	Left Ventricle	heart
29	chr3:139682200-139682600	Enhancers	HSMMtube	muscle
30	chr3:139682600-139726000	Weak transcription	HSMMtube	muscle
31	chr3:139683000-139683200	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr3:139683000-139683400	Enhancers	Right Ventricle	heart
33	chr3:139686000-139686400	Enhancers	Right Atrium	heart
34	chr3:139688800-139689200	Enhancers	Adipose Nuclei	Adipose
35	chr3:139689200-139696200	Weak transcription	Adipose Nuclei	Adipose
36	chr3:139690400-139696400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:139693200-139695600	Enhancers	Fetal Brain Female	brain
38	chr3:139693200-139695600	Enhancers	Right Atrium	heart
39	chr3:139693600-139695600	Enhancers	Right Ventricle	heart
40	chr3:139693600-139696200	Enhancers	Left Ventricle	heart
41	chr3:139694000-139695400	Enhancers	Fetal Muscle Leg	muscle
42	chr3:139694400-139694800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:139694400-139694800	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:139694400-139695000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:139694600-139695400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr3:139695200-139696000	Enhancers	Gastric	stomach
47	chr3:139695400-139695600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:139695600-139696600	Weak transcription	Right Atrium	heart
49	chr3:139696200-139697600	Enhancers	Adipose Nuclei	Adipose
50	chr3:139696600-139698200	Enhancers	Ovary	ovary

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