Variant report

Variant	nsv245
Chromosome Location	chr3:162508947-162632691
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

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

(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: 891 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543327771	chr3:162508961-162508962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533307331	chr3:162508981-162508982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188726626	chr3:162509063-162509064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561510936	chr3:162509098-162509099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560594864	chr3:162509153-162509154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529567840	chr3:162509186-162509187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375842089	chr3:162509204-162509205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549143068	chr3:162509219-162509220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569231583	chr3:162509230-162509231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528909909	chr3:162509329-162509330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181208779	chr3:162509359-162509360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13100415	chr3:162509363-162509364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539614335	chr3:162509383-162509384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185705459	chr3:162509473-162509474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139235819	chr3:162509480-162509481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561047574	chr3:162509485-162509486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536617646	chr3:162509499-162509500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535728549	chr3:162509563-162509564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149416103	chr3:162509659-162509660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3853172	chr3:162509704-162509705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113650165	chr3:162509714-162509715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13101227	chr3:162509715-162509716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577840099	chr3:162509746-162509747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559878716	chr3:162509781-162509782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540454576	chr3:162509802-162509803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3853173	chr3:162509817-162509818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574293771	chr3:162509851-162509852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543258441	chr3:162509868-162509869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144813715	chr3:162509876-162509877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188996655	chr3:162509878-162509879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531702979	chr3:162509951-162509952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562386517	chr3:162509952-162509953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148168784	chr3:162509990-162509991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181812529	chr3:162509992-162509993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141609530	chr3:162510060-162510061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567771149	chr3:162510070-162510071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs206281	chr3:162510086-162510087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566653830	chr3:162510087-162510088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187356200	chr3:162510112-162510113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551087945	chr3:162510114-162510115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74875561	chr3:162510120-162510121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568777776	chr3:162510147-162510148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552073846	chr3:162510158-162510159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13063263	chr3:162510174-162510175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557309963	chr3:162510177-162510178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73011788	chr3:162510235-162510236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533632762	chr3:162510254-162510255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554075264	chr3:162510288-162510289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550533267	chr3:162510295-162510296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568344148	chr3:162510342-162510343	Weak transcription Enhancers	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:39 , 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	chr3:162509800-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:162510000-162511000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:162511400-162512000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr3:162511600-162512000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:162516600-162517800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:162517800-162520400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:162519400-162520800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:162519800-162520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:162520400-162520800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:162520400-162520800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:162520800-162521800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:162522000-162522200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:162532800-162533400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr3:162542600-162543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:162547000-162547600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr3:162559600-162562800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:162563200-162564400	Enhancers	Dnd41	blood
20	chr3:162563400-162563800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:162563400-162564000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr3:162564400-162564600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:162570800-162571600	Enhancers	Dnd41	blood
24	chr3:162571200-162572000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr3:162572800-162575200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr3:162582600-162584000	Enhancers	Dnd41	blood
27	chr3:162583400-162583800	Active TSS	Osteobl	bone
28	chr3:162583400-162584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:162584200-162584600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:162584600-162585400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:162584600-162585600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:162596800-162597400	Enhancers	Dnd41	blood
33	chr3:162600400-162601000	Enhancers	Colon Smooth Muscle	Colon
34	chr3:162600800-162601200	Enhancers	Dnd41	blood
35	chr3:162601000-162603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:162608800-162610400	ZNF genes & repeats	Dnd41	blood
37	chr3:162609000-162611200	Weak transcription	Right Atrium	heart
38	chr3:162610200-162610800	Enhancers	A549	lung
39	chr3:162630200-162634000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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