Variant report

Variant	nsv591859
Chromosome Location	chr3:139661938-139704174
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:139701206..139701879-chr3:139769975..139770873,4	MCF-7	breast:
2	chr3:139682760..139685173-chr3:139765720..139767567,2	K562	blood:
3	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
4	chr3:139683774..139685457-chr3:139686813..139689553,2	K562	blood:
5	chr3:139693515..139695318-chr3:139696321..139698150,3	K562	blood:
6	chr3:139673841..139676667-chr3:139679363..139682238,2	K562	blood:
7	chr3:139662077..139663784-chr3:139663792..139665424,2	MCF-7	breast:
8	chr3:139700959..139701745-chr3:139770128..139770877,2	MCF-7	breast:
9	chr3:139683774..139685457-chr3:139686813..139689553,2	K562	blood:
10	chr1:183694032..183695543-chr3:139702182..139703699,2	MCF-7	breast:
11	chr3:139673841..139676667-chr3:139679363..139682238,2	K562	blood:
12	chr3:139693515..139695318-chr3:139696321..139698150,3	K562	blood:
13	chr3:139656272..139658962-chr3:139660762..139664978,3	MCF-7	breast:
14	chr3:139687470..139689558-chr3:139697247..139698836,2	MCF-7	breast:
15	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
16	chr3:139662077..139663784-chr3:139663792..139665424,2	MCF-7	breast:
17	chr3:139687470..139689558-chr3:139697247..139698836,2	MCF-7	breast:

No data

Extended variants
information (count: 1591 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1591 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9835329	chr3:139661938-139661939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573205902	chr3:139662048-139662049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542132302	chr3:139662067-139662068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190192366	chr3:139662088-139662089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548562584	chr3:139662107-139662108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183241884	chr3:139662130-139662131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77748746	chr3:139662148-139662149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188706408	chr3:139662185-139662186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532830176	chr3:139662188-139662189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539864331	chr3:139662294-139662295	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559697217	chr3:139662295-139662296	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572820655	chr3:139662310-139662311	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548462026	chr3:139662400-139662401	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191945337	chr3:139662402-139662403	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531012433	chr3:139662432-139662433	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184243915	chr3:139662446-139662447	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79751900	chr3:139662447-139662448	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111553308	chr3:139662460-139662461	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570870061	chr3:139662507-139662508	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539911154	chr3:139662532-139662533	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187536934	chr3:139662539-139662540	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111924832	chr3:139662561-139662562	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148265989	chr3:139662575-139662576	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547879305	chr3:139662644-139662645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114042337	chr3:139662649-139662650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141268400	chr3:139662670-139662671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150761630	chr3:139662749-139662750	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567856555	chr3:139662860-139662861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557907470	chr3:139662867-139662868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530411452	chr3:139662929-139662930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534163121	chr3:139662946-139662947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191553335	chr3:139662952-139662953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183840484	chr3:139663000-139663001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187055270	chr3:139663010-139663011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369210740	chr3:139663024-139663025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191789294	chr3:139663061-139663062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35843010	chr3:139663067-139663068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542560054	chr3:139663072-139663073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562251684	chr3:139663140-139663141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139096341	chr3:139663213-139663214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550912367	chr3:139663229-139663230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374239041	chr3:139663275-139663276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564656542	chr3:139663401-139663402	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533508216	chr3:139663422-139663423	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143521747	chr3:139663425-139663426	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566926035	chr3:139663469-139663470	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9821898	chr3:139663500-139663501	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549325616	chr3:139663539-139663540	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569079165	chr3:139663555-139663556	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538122331	chr3:139663581-139663582	Weak transcription Genic enhancers Enhancers	n/a	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
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

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139659000-139662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139660200-139663400	Weak transcription	Psoas Muscle	Psoas
3	chr3:139660400-139663400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:139660600-139663200	Weak transcription	Left Ventricle	heart
5	chr3:139660600-139667600	Weak transcription	HSMMtube	muscle
6	chr3:139661000-139662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:139661200-139665400	Weak transcription	Ovary	ovary
8	chr3:139662200-139662600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:139662200-139662800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:139662600-139662800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:139662800-139663400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:139662800-139665200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:139663200-139663600	Enhancers	Left Ventricle	heart
14	chr3:139663400-139663600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:139663400-139663800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:139663400-139663800	Enhancers	Psoas Muscle	Psoas
17	chr3:139663400-139663800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:139663600-139664200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:139663800-139667600	Weak transcription	Psoas Muscle	Psoas
20	chr3:139663800-139667800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:139665000-139665400	Enhancers	HMEC	breast
22	chr3:139665200-139665400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:139665200-139665600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:139665200-139665600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:139665400-139665600	ZNF genes & repeats	Aorta	Aorta
26	chr3:139665400-139665800	ZNF genes & repeats	Ovary	ovary
27	chr3:139665600-139667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:139665600-139671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:139665800-139672200	Weak transcription	Ovary	ovary
30	chr3:139667600-139667800	Enhancers	Psoas Muscle	Psoas
31	chr3:139667600-139668000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:139667600-139668200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr3:139667600-139669200	Strong transcription	HSMMtube	muscle
34	chr3:139667800-139668200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:139668000-139668200	ZNF genes & repeats	Aorta	Aorta
36	chr3:139668000-139672200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:139668200-139698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:139669200-139682200	Weak transcription	HSMMtube	muscle
39	chr3:139671200-139673800	Enhancers	HMEC	breast
40	chr3:139671600-139673400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:139671600-139673600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr3:139671800-139673400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:139671800-139673600	Enhancers	NHEK	skin
44	chr3:139672200-139672800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:139672200-139673600	Enhancers	Ovary	ovary
46	chr3:139672400-139672800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr3:139672800-139673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:139673200-139673400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:139673400-139695400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:139673600-139674600	Weak transcription	Ovary	ovary

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