Variant report

Variant	nsv877774
Chromosome Location	chr3:162511139-162640469
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
2	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
3	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
4	chr3:162524861..162526931-chr3:162547103..162549053,2	MCF-7	breast:
5	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
6	chr16:87583669..87584291-chr3:162551047..162551567,2	MCF-7	breast:
7	chr16:87583726..87584390-chr3:162551047..162551567,2	MCF-7	breast:
8	chr3:162548004..162549875-chr3:162551679..162554489,2	MCF-7	breast:
9	chr3:162627188..162629037-chr3:162630724..162633448,2	MCF-7	breast:
10	chr3:162118223..162119105-chr3:162517137..162517997,2	MCF-7	breast:
11	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:
12	chr3:162622047..162623612-chr3:162639605..162642211,2	K562	blood:
13	chr3:162554556..162557102-chr3:162558855..162561328,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOL1-2	chr3:162631870-162632022	NONHSAT093026

No data

Extended variants
information (count: 1113 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs206280	chr3:162511139-162511140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145056340	chr3:162511186-162511187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551221614	chr3:162511210-162511211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570925130	chr3:162511216-162511217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35111049	chr3:162511233-162511234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149118378	chr3:162511261-162511262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573546048	chr3:162511284-162511285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562472127	chr3:162511344-162511345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547055405	chr3:162511346-162511347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567387337	chr3:162511367-162511368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535953713	chr3:162511435-162511436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs206279	chr3:162511440-162511441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78833715	chr3:162511480-162511481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539352838	chr3:162511565-162511566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs559262069	chr3:162511581-162511582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572496397	chr3:162511611-162511612	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541445697	chr3:162511644-162511645	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374547170	chr3:162511656-162511657	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554652904	chr3:162511669-162511670	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116166767	chr3:162511711-162511712	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559089656	chr3:162511827-162511828	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183987028	chr3:162511842-162511843	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115146184	chr3:162511895-162511896	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368700317	chr3:162511900-162511901	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188930247	chr3:162511927-162511928	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144548321	chr3:162511948-162511949	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533031735	chr3:162511957-162511958	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544924499	chr3:162512008-162512009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147663976	chr3:162512019-162512020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545142903	chr3:162512058-162512059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564863776	chr3:162512059-162512060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115908061	chr3:162512069-162512070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371585340	chr3:162512134-162512135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201918478	chr3:162512135-162512136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199508119	chr3:162512136-162512137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74597930	chr3:162512193-162512194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377343376	chr3:162512264-162512265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192706520	chr3:162512427-162512428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34297692	chr3:162512461-162512462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115346309	chr3:162512480-162512481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533637362	chr3:162512482-162512483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112118314	chr3:162512563-162512564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12487920	chr3:162512619-162512620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184118303	chr3:162512627-162512628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12487989	chr3:162512683-162512684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12487950	chr3:162512708-162512709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs13076294	chr3:162512759-162512760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142373213	chr3:162512773-162512774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116462185	chr3:162512817-162512818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565952613	chr3:162512848-162512849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:162503400-162519400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:162509200-162512000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:162511400-162512000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr3:162511600-162512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:162516600-162517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:162517800-162520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:162519400-162520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:162519800-162520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:162520400-162520800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:162520400-162520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:162520800-162521800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:162522000-162522200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:162532800-162533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:162542600-162543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:162547000-162547600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
16	chr3:162559600-162562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:162563200-162564400	Enhancers	Dnd41	blood
18	chr3:162563400-162563800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr3:162563400-162564000	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr3:162564400-162564600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:162570800-162571600	Enhancers	Dnd41	blood
22	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr3:162582600-162584000	Enhancers	Dnd41	blood
25	chr3:162583400-162583800	Active TSS	Osteobl	bone
26	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:162596800-162597400	Enhancers	Dnd41	blood
31	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
32	chr3:162600800-162601200	Enhancers	Dnd41	blood
33	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
35	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
36	chr3:162610200-162610800	Enhancers	A549	lung
37	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr3:162634000-162634400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
39	chr3:162634400-162662200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:162636200-162653200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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