Variant report

Variant	nsv591860
Chromosome Location	chr3:139697295-139713959
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:139704566..139706318-chr3:139708309..139710031,2	K562	blood:
2	chr1:183694032..183695543-chr3:139702182..139703699,2	MCF-7	breast:
3	chr3:139704566..139706318-chr3:139708309..139710031,2	K562	blood:
4	chr3:139713121..139716043-chr3:139741929..139744858,2	K562	blood:
5	chr3:139693515..139695318-chr3:139696321..139698150,3	K562	blood:
6	chr3:139701206..139701879-chr3:139769975..139770873,4	MCF-7	breast:
7	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
8	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
9	chr3:139687470..139689558-chr3:139697247..139698836,2	MCF-7	breast:
10	chr3:139700959..139701745-chr3:139770128..139770877,2	MCF-7	breast:

No data

Extended variants
information (count: 656 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1426040	chr3:139697295-139697296	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187880402	chr3:139697358-139697359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542147668	chr3:139697400-139697401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117005447	chr3:139697401-139697402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556328977	chr3:139697455-139697456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576196940	chr3:139697462-139697463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147962239	chr3:139697473-139697474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566001134	chr3:139697491-139697492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146426018	chr3:139697522-139697523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559070362	chr3:139697536-139697537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552137591	chr3:139697540-139697541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1426039	chr3:139697606-139697607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575727186	chr3:139697609-139697610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79325736	chr3:139697689-139697690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527253573	chr3:139697760-139697761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73224968	chr3:139697766-139697767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149099196	chr3:139697770-139697771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529521480	chr3:139697830-139697831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549154769	chr3:139697841-139697842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569053851	chr3:139697842-139697843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35777816	chr3:139697866-139697867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73224969	chr3:139697874-139697875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374762171	chr3:139697877-139697878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143156345	chr3:139697915-139697916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148242752	chr3:139697966-139697967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370376969	chr3:139697980-139697981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191444592	chr3:139698006-139698007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546690642	chr3:139698042-139698043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560278863	chr3:139698048-139698049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529337666	chr3:139698117-139698118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548987980	chr3:139698126-139698127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567433946	chr3:139698130-139698131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183248799	chr3:139698133-139698134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556391382	chr3:139698148-139698149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368856085	chr3:139698263-139698264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375175276	chr3:139698268-139698269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530904391	chr3:139698301-139698302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576257832	chr3:139698324-139698325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545136934	chr3:139698326-139698327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76318622	chr3:139698327-139698328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114979530	chr3:139698338-139698339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540648905	chr3:139698348-139698349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560879672	chr3:139698354-139698355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538153527	chr3:139698389-139698390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142767542	chr3:139698412-139698413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542864248	chr3:139698435-139698436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376877468	chr3:139698501-139698502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35492294	chr3:139698517-139698518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78755684	chr3:139698540-139698541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147384385	chr3:139698541-139698542	Weak transcription	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
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139668200-139698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139682600-139726000	Weak transcription	HSMMtube	muscle
3	chr3:139696200-139697600	Enhancers	Adipose Nuclei	Adipose
4	chr3:139696600-139698200	Enhancers	Ovary	ovary
5	chr3:139698200-139700400	Weak transcription	Ovary	ovary
6	chr3:139700400-139700800	Enhancers	Ovary	ovary
7	chr3:139700600-139700800	Enhancers	Psoas Muscle	Psoas
8	chr3:139700800-139723200	Weak transcription	Ovary	ovary
9	chr3:139702800-139704000	Enhancers	Psoas Muscle	Psoas
10	chr3:139706200-139709200	Enhancers	HMEC	breast
11	chr3:139706400-139707600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:139707400-139708200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:139708400-139709000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:139713000-139714600	Enhancers	Fetal Muscle Leg	muscle

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