Variant report

Variant	esv3429467
Chromosome Location	chr3:179007908-179010506
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:178977549..178980456-chr3:179006646..179008470,2	MCF-7	breast:
2	chr3:179006501..179008935-chr3:179014327..179018161,3	K562	blood:
3	chr3:179009053..179011621-chr3:179014043..179016990,3	K562	blood:
4	chr3:178787922..178790661-chr3:179007166..179008700,2	K562	blood:
5	chr3:178997889..179000034-chr3:179007138..179009372,2	K562	blood:
6	chr3:178864784..178866579-chr3:179010384..179012137,2	MCF-7	breast:
7	chr3:179006501..179009380-chr3:179014327..179018161,4	K562	blood:
8	chr3:178986328..178988905-chr3:179009647..179011944,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000172667	chromatin interactions
ENSG00000229102	chromatin interactions
ENSG00000171121	chromatin interactions
ENSG00000121879	chromatin interactions
ENSG00000240429	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551174293	chr3:179008014-179008015	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs189744646	chr3:179008021-179008022	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs553467827	chr3:179008054-179008055	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs55815422	chr3:179008060-179008061	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs66868303	chr3:179008081-179008082	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs56122029	chr3:179008091-179008092	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369739153	chr3:179008122-179008123	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs56216645	chr3:179008145-179008146	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs55707920	chr3:179008205-179008206	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs59868344	chr3:179008257-179008258	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs57723127	chr3:179008258-179008259	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs182190186	chr3:179008285-179008286	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546674880	chr3:179008292-179008293	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs58296329	chr3:179008293-179008294	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs566475375	chr3:179008299-179008300	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs567071464	chr3:179008302-179008303	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs370318073	chr3:179008304-179008305	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs374735181	chr3:179008311-179008312	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs13079725	chr3:179008313-179008314	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532500266	chr3:179008329-179008330	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs372590872	chr3:179008336-179008337	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs552295767	chr3:179008390-179008391	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375669501	chr3:179008400-179008401	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs368456080	chr3:179008410-179008411	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs569373104	chr3:179008437-179008438	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs371822716	chr3:179008451-179008452	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538385336	chr3:179008483-179008484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs9758160	chr3:179008491-179008492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs139725420	chr3:179008581-179008582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200883033	chr3:179008594-179008595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371374358	chr3:179008609-179008610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374663723	chr3:179008614-179008615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554790644	chr3:179008739-179008740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568292044	chr3:179008740-179008741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74511681	chr3:179008744-179008745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554000511	chr3:179008752-179008753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191896159	chr3:179008756-179008757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545736691	chr3:179008768-179008769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569492549	chr3:179008780-179008781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373436590	chr3:179008798-179008799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541558146	chr3:179008825-179008826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183850638	chr3:179008828-179008829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561122824	chr3:179008839-179008840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201837475	chr3:179008860-179008861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574945986	chr3:179008863-179008864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372939325	chr3:179008944-179008945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377207925	chr3:179009071-179009072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540483963	chr3:179009097-179009098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62410423	chr3:179009100-179009101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560794068	chr3:179009137-179009138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Autism	20685689	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179007800-179015600	Weak transcription	K562	blood
2	chr3:179009600-179010800	Enhancers	HepG2	liver
3	chr3:179010200-179010400	Enhancers	HSMM	muscle

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